The changing face of Turner syndrome

WGCNA: an R package for weighted correlation network analysis

Langfelder, P., & Horvath, S. (2008) · BMC Bioinformatics · doi:10.1186/1471-2105-9-559 · Cited by 27,252 · see citing works

Gene Action in the X-chromosome of the Mouse (Mus musculus L.)

LYON, M. F. (1961) · Nature · doi:10.1038/190372a0 · Cited by 3,978 · see citing works

X-inactivation profile reveals extensive variability in X-linked gene expression in females

Carrel, L., & Willard, H. F. (2005) · Nature · doi:10.1038/nature03479 · Cited by 2,097 · see citing works

Limitations of the Application of Fourfold Table Analysis to Hospital Data

Berkson, J. (1946) · Biometrics Bulletin · doi:10.2307/3002000 · Cited by 1,810 · see citing works

Non-coding RNAs in Development and Disease: Background, Mechanisms, and Therapeutic Approaches

Beermann, J., Piccoli, M.-T., Viereck, J., & Thum, T. (2016) · Physiological Reviews · doi:10.1152/physrev.00041.2015 · Cited by 1,727 · see citing works

A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome

Brown, C. J., Ballabio, A., Rupert, J. L., Lafrenière, R. G., Grompe, M., Tonlorenzi, R., & Willard, H. F. (1991) · Nature · doi:10.1038/349038a0 · Cited by 1,536 · see citing works

A SEX-CHROMOSOME ANOMALY IN A CASE OF GONADAL DYSGENESIS (TURNER'S SYNDROME)

Ford, C. E. (1959) · The Lancet · doi:10.1016/s0140-6736(59)91893-8 · Cited by 1,359 · see citing works

2020 International Society of Hypertension global hypertension practice guidelines

Unger, T., Borghi, C., Charchar, F., Khan, N. A., Poulter, N. R., Prabhakaran, D., Ramirez, A., Schlaich, M., Stergiou, G. S., Tomaszewski, M., et al. (2020) · Journal of Hypertension · doi:10.1097/hjh.0000000000002453 · Cited by 1,283 · see citing works

Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in �rhus, Denmark

Nielsen, J., & Wohlert, M. (1991) · Human Genetics · doi:10.1007/bf01213097 · Cited by 1,193 · see citing works

Landscape of X chromosome inactivation across human tissues

GTEx Consortium, Tukiainen, T., Villani, A.-C., Yen, A., Rivas, M. A., Marshall, J. L., Satija, R., Aguirre, M., Gauthier, L., Fleharty, M., et al. (2017) · Nature · doi:10.1038/nature24265 · Cited by 1,138 · see citing works

A SYNDROME OF INFANTILISM, CONGENITAL WEBBED NECK, AND CUBITUS VALGUS1

TURNER, H. H. (1938) · Endocrinology · doi:10.1210/endo-23-5-566 · Cited by 1,132 · see citing works

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner syndrome meeting

Gravholt, C. H., Andersen, N. H., Conway, G. S., Dekkers, O. M., Geffner, M. E., Klein, K. O., Lin, A. E., Mauras, N., Quigley, C. A., Rubin, K., et al. (2017) · European Journal of Endocrinology · doi:10.1530/eje-17-0430 · Cited by 1,101 · see citing works

Four Evolutionary Strata on the Human X Chromosome

Lahn, B. T., & Page, D. C. (1999) · Science · doi:10.1126/science.286.5441.964 · Cited by 1,001 · see citing works

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Rao, E., Weiss, B., Fukami, M., Rump, A., Niesler, B., Mertz, A., Muroya, K., Binder, G., Kirsch, S., Winkelmann, M., et al. (1997) · Nature Genetics · doi:10.1038/ng0597-54 · Cited by 943 · see citing works

Mature oocyte cryopreservation: a guideline

(2013) · Fertility and Sterility · doi:10.1016/j.fertnstert.2012.09.028 · Cited by 928 · see citing works

Treatment of symptoms of the menopause: an Endocrine Society Clinical Practice Guideline

Stuenkel, C. A., Davis, S. R., Gompel, A., Lumsden, M. A., Murad, M. H., Pinkerton, J. V., & Santen, R. J. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-2236 · Cited by 884 · see citing works

Coronary Artery Anomalies

Angelini, P. (2007) · Circulation · doi:10.1161/circulationaha.106.618082 · Cited by 883 · see citing works

The X chromosome in immune functions: when a chromosome makes the difference

Libert, C., Dejager, L., & Pinheiro, I. (2010) · Nature reviews. Immunology · doi:10.1038/nri2815 · Cited by 789 · see citing works

X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

Laumonnier, F., Bonnet-Brilhault, F., Gomot, M., Blanc, R., David, A., Moizard, M.-P., Raynaud, M., Ronce, N., Lemonnier, E., Calvas, P., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/382137 · Cited by 768 · see citing works

Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function

Skuse, D. H., James, R. S., Bishop, D. V. M., Coppin, B., Dalton, P., Aamodt-Leeper, G., Bacarese-Hamilton, M., Creswell, C., McGurk, R., & Jacobs, P. A. (1997) · Nature · doi:10.1038/42706 · Cited by 747 · see citing works

Postmenopausal Hormone Therapy: An Endocrine Society Scientific Statement

Santen, R. J., Allred, D. C., Ardoin, S. P., Archer, D. F., Boyd, N. F., Braunstein, G. D., Burger, H., Colditz, G. A., Davis, S. R., Gambacciani, M., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-2509 · Cited by 679 · see citing works

Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome

Stochholm, K., Juul, S., Juel, K., Naeraa, R. W., & Højbjerg Gravholt, C. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-0558 · Cited by 652 · see citing works

Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators

Bellott, D. W., Hughes, J. F., Skaletsky, H., Brown, L. G., Pyntikova, T., Cho, T.-J., Koutseva, N., Zaghlul, S., Graves, T., Rock, S., et al. (2014) · Nature · doi:10.1038/nature13206 · Cited by 638 · see citing works

Risk stratification in hypertension: new insights from the Framingham study*1

Kannel, W. B. (2000) · American Journal of Hypertension · doi:10.1016/s0895-7061(99)00252-6 · Cited by 574 · see citing works

A cytogenetic survey of 14,069 newborn infants: I. Incidence of chromosome abnormalities

Hamerton, J. L., Canning, N., Ray, M., & Smith, S. (1975) · Clinical Genetics · doi:10.1111/j.1399-0004.1975.tb01498.x · Cited by 565 · see citing works

Morbidity in Turner syndrome

Gravholt, C. H., Juul, S., Naeraa, R. W., & Hansen, J. (1998) · Journal of Clinical Epidemiology · doi:10.1016/s0895-4356(97)00237-0 · Cited by 548 · see citing works

Hormone replacement therapy in young women with primary ovarian insufficiency and early menopause

Sullivan, S. D., Sarrel, P. M., & Nelson, L. M. (2016) · Fertility and Sterility · doi:10.1016/j.fertnstert.2016.09.046 · Cited by 515 · see citing works

Progestogens Used in Postmenopausal Hormone Therapy: Differences in Their Pharmacological Properties, Intracellular Actions, and Clinical Effects

Stanczyk, F. Z., Hapgood, J. P., Winer, S., & Mishell, D. R. (2013) · Endocrine Reviews · doi:10.1210/er.2012-1008 · Cited by 429 · see citing works

A cytogenetic survey of 11,680 newborn infants

Jacobs, P. A., Melville, M. M., Ratcliffe, S. G., Keay, A. J., & SYME, J. (1974) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1974.tb01843.x · Cited by 428 · see citing works

The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism

Hook, E., & Warburton, D. (1983) · Human Genetics · doi:10.1007/bf00289473 · Cited by 406 · see citing works

Turner's Syndrome in Adulthood

Elsheikh, M., Dunger, D. B., Conway, G. S., & Wass, J. A. H. (2002) · Endocrine Reviews · doi:10.1210/edrv.23.1.0457 · Cited by 397 · see citing works

Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from X inactivation and possible implications for turner syndrome

Fisher, E., Beer‐Romero, P., Brown, L. G., Ridley, A. J., McNeil, J. A., Lawrence, J. B., Willard, H. F., Bieber, F. R., & Page, D. C. (1990) · Cell · doi:10.1016/0092-8674(90)90416-c · Cited by 393 · see citing works

Mechanisms and consequences of somatic mosaicism in humans

Youssoufian, H., & Pyeritz, R. E. (2002) · Nature Reviews Genetics · doi:10.1038/nrg906 · Cited by 391 · see citing works

Localization of the X inactivation centre on the human X chromosome in Xq13

Brown, C. J., Lafrenière, R. G., Powers, V. E. C., Sebastio, G., Ballabio, A., Pettigrew, A. L., Ledbetter, D. H., Levy, E. R., Craig, I., & Willard, H. F. (1991) · Nature · doi:10.1038/349082a0 · Cited by 389 · see citing works

Serum levels of anti-mullerian hormone as a marker of ovarian function in 926 healthy females from birth to adulthood and in 172 Turner syndrome patients

Hagen, C. P., Aksglaede, L., Sørensen, K., Main, K. M., Boas, M., Cleemann, L., Holm, K., Gravholt, C. H., Andersson, A.-M., Pedersen, A. T., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-0930 · Cited by 383 · see citing works

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

Lederer, D., Grisart, B., Digilio, M. C., Benoît, V., Crespin, M., Ghariani, S., Maystadt, I., Dallapiccola, B., & Verellen‐Dumoulin, C. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.11.021 · Cited by 374 · see citing works

Which follicles make the most anti-Mullerian hormone in humans? Evidence for an abrupt decline in AMH production at the time of follicle selection

Jeppesen, J. V., Anderson, R. A., Kelsey, T., Christiansen, S. L., Kristensen, S. G., Jayaprakasan, K., Raine‐Fenning, N. J., Campbell, B. K., & Andersen, C. Y. (2013) · Molecular Human Reproduction · doi:10.1093/molehr/gat024 · Cited by 374 · see citing works

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

Jensen, L. R., Amende, M., Gurok, U., Moser, B., Gimmel, V., Tzschach, A., Janecke, A. R., Tariverdian, G., Chelly, J., Fryns, J.-P., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/427563 · Cited by 373 · see citing works

Aortic Dilatation and Dissection in Turner Syndrome

Matura, L. A., Ho, V. B., Rosing, D. R., & Bondy, C. A. (2007) · Circulation · doi:10.1161/circulationaha.106.685487 · Cited by 364 · see citing works

Mortality in women with Turner syndrome in Great Britain: a national cohort study

Schoemaker, M. J., Swerdlow, A. J., Higgins, C. D., Wright, A. F., & Jacobs, P. A. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-1049 · Cited by 360 · see citing works

Turner syndrome: mechanisms and management

Gravholt, C. H., Viuff, M. H., Brun, S., Stochholm, K., & Andersen, N. H. (2019) · Nature Reviews Endocrinology · doi:10.1038/s41574-019-0224-4 · Cited by 356 · see citing works

Ovarian cortex transplantation: 60 reported live births brings the success and worldwide expansion of the technique towards routine clinical practice

Donnez, J., & Dolmans, M. (2015) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-015-0544-9 · Cited by 331 · see citing works

Ninety-five orthotopic transplantations in 74 women of ovarian tissue after cytotoxic treatment in a fertility preservation network: tissue activity, pregnancy and delivery rates

van der Ven, H., Liebenthron, J., Beckmann, M. W., Tóth, B., Korell, M., Krüssel, J.-S., Frambach, T., Kupka, M. S., Höhl, M., Winkler-Crepaz, K., et al. (2016) · Human Reproduction · doi:10.1093/humrep/dew165 · Cited by 310 · see citing works

X chromosome regulation: diverse patterns in development, tissues and disease

Deng, X., Berletch, J. B., Nguyen, D. K., & Distèche, C. M. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3687 · Cited by 309 · see citing works

Basics of Cardiac Development for the Understanding of Congenital Heart Malformations

Groot, A. C. G., Bartelings, M. M., DeRuiter, M. C., & Poelmann, R. E. (2004) · Pediatric Research · doi:10.1203/01.pdr.0000148710.69159.61 · Cited by 292 · see citing works

PHOG, a candidate gene for involvement in the short stature of Turner syndrome

Ellison, J. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.8.1341 · Cited by 286 · see citing works

Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome

Bernard, V., Donadille, B., Zenaty, D., Courtillot, C., Salenave, S., Brac de la Perrière, A., Albarel, F., Fèvre, A., Kerlan, V., Brue, T., et al. (2016) · Human Reproduction · doi:10.1093/humrep/dew012 · Cited by 266 · see citing works

Clinical and epidemiological description of aortic dissection in Turner's syndrome

Gravholt, C. H., Landin‐Wilhelmsen, K., Stochholm, K., Hjerrild, B., Ledet, T., Djurhuus, C., Sylvén, L., Baandrup, U. T., Kristensen, B. Ø., & Christiansen, J. S. (2006) · Cardiology in the Young · doi:10.1017/s1047951106000928 · Cited by 264 · see citing works

The role of secondary heart field in cardiac development

Dyer, L. A., & Kirby, M. L. (2009) · Developmental Biology · doi:10.1016/j.ydbio.2009.10.009 · Cited by 262 · see citing works

Fertility preservation in girls with Turner syndrome: prognostic signs of the presence of ovarian follicles

Birgit, B., Julius, H., Carsten, R., Maryam, S., Gabriel, F., Victoria, K., Margareta, F., & Outi, H. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-0708 · Cited by 254 · see citing works

Derivation of consensus inactivation status for X-linked genes from genome-wide studies

Balaton, B. P., Cotton, A. M., & Brown, C. J. (2015) · Biology of Sex Differences · doi:10.1186/s13293-015-0053-7 · Cited by 248 · see citing works

Final Height in Girls with Turner Syndrome after Long-Term Growth Hormone Treatment in Three Dosages and Low Dose Estrogens

van Pareren, Y. K., Keizer‐Schrama, S. M. P. F. D. M., Stijnen, T., Sas, T., Jansen, M., Otten, B. J., Hoorweg-Nijman, J. J. G., Vulsma, T., Stokvis‐Brantsma, W. H., Rouwé, C. W., et al. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021171 · Cited by 244 · see citing works

Zfx Controls the Self-Renewal of Embryonic and Hematopoietic Stem Cells

Galan-Caridad, J. M., Harel, S., Arenzana, T. L., Hou, Z. E., Doetsch, F. K., Mirny, L. A., & Reizis, B. (2007) · Cell · doi:10.1016/j.cell.2007.03.014 · Cited by 244 · see citing works

Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Association

Silberbach, M., Roos‐Hesselink, J. W., Andersen, N. H., Braverman, A. C., Brown, N. M., Collins, R. T., Backer, J. F. A. D., Eagle, K. A., Hiratzka, L. F., Johnson, W. H., et al. (2018) · Circulation Genomic and Precision Medicine · doi:10.1161/hcg.0000000000000048 · Cited by 242 · see citing works

Evaluation of 3D blood flow patterns and wall shear stress in the normal and dilated thoracic aorta using flow-sensitive 4D CMR

Bürk, J., Blanke, P., Stanković, Z. B., Barker, A. J., Russe, M. F., Geiger, J., Frydrychowicz, A. P., Langer, M., & Markl, M. (2012) · Journal of Cardiovascular Magnetic Resonance · doi:10.1186/1532-429x-14-84 · Cited by 241 · see citing works

Über typische Kombinationsbilder multipler Abartungen

Ullrich, O. (1930) · European Journal of Pediatrics · doi:10.1007/bf02248090 · Cited by 240 · see citing works

GH safety workshop position paper: a critical appraisal of recombinant human GH therapy in children and adults

Allen, D. B., Backeljauw, P. F., Bidlingmaier, M., Biller, B. M. K., Boguszewski, M. C. D. S., Burman, P., Butler, G. E., Chihara, K., Christiansen, J. S., Cianfarani, S., et al. (2015) · European Journal of Endocrinology · doi:10.1530/eje-15-0873 · Cited by 237 · see citing works

Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss

Hook, E. B., & Warburton, D. (2014) · Human Genetics · doi:10.1007/s00439-014-1420-x · Cited by 236 · see citing works

Somatic mosaicism and neurodevelopmental disease

D’Gama, A. M., & Walsh, C. A. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0257-3 · Cited by 236 · see citing works

Estrogen: The necessary evil for human health, and ways to tame it

Patel, S. V., Homaei, A. A., Akondi, B. R., & Meher, B. R. (2018) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2018.03.078 · Cited by 232 · see citing works

Bicuspid Aortic Valves With Different Spatial Orientations of the Leaflets Are Distinct Etiological Entities

Fernández, B., Durán, A. C., Fernández-Gallego, T., Fernández, M. C., Such, M., Arqué, J. M., & Sans-Coma, V. (2009) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2009.07.044 · Cited by 230 · see citing works

Partitioning the heart: mechanisms of cardiac septation and valve development

Lin, C., Lin, C., Chen, C.-H., Zhou, B., & Chang, C. (2012) · Development · doi:10.1242/dev.063495 · Cited by 219 · see citing works

Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy

Ottesen, A. M., Aksglaede, L., Garn, I., Tartaglia, N., Tassone, F., Gravholt, C. H., Bojesen, A., Sørensen, K., Jørgensen, N., Rajpert‐De Meyts, E., et al. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33334 · Cited by 219 · see citing works

Granulocyte-Macrophage Colony-Stimulating Factor Alleviates Adverse Consequences of Embryo Culture on Fetal Growth Trajectory and Placental Morphogenesis

Sjöblom, C., Roberts, C. T., Wikland, M., & Robertson, S. A. (2005) · Endocrinology · doi:10.1210/en.2004-1260 · Cited by 218 · see citing works

Cardiovascular Phenotype in Turner Syndrome—Integrating Cardiology, Genetics, and Endocrinology

Mortensen, K. H., Andersen, N. H., & Gravholt, C. H. (2012) · Endocrine Reviews · doi:10.1210/er.2011-1059 · Cited by 217 · see citing works

KDM6A Point Mutations Cause Kabuki Syndrome

Miyake, N., Mizuno, S., Okamoto, N., Ohashi, H., Shiina, M., Ogata, K., Tsurusaki, Y., Nakashima, M., Saitsu, H., Niikawa, N., et al. (2012) · Human Mutation · doi:10.1002/humu.22229 · Cited by 216 · see citing works

Growth hormone plus childhood low-dose estrogen in Turner's syndrome

Ross, J. L., Quigley, C. A., Cao, D., Feuillan, P., Kowal, K., Chipman, J. J., & Cutler, G. B. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1005669 · Cited by 212 · see citing works

Fertility Preservation in Women with Turner Syndrome: A Comprehensive Review and Practical Guidelines

Oktay, K., Bedoschi, G., Berkowitz, K. M., BRONSON, R. A., Kashani, B. N., McGovern, P. G., Pal, L., Quinn, G. P., & Rubin, K. (2015) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2015.10.011 · Cited by 210 · see citing works

Cognitive and neurological aspects of sex chromosome aneuploidies

Hong, D. S., & Reiss, A. L. (2014) · The Lancet Neurology · doi:10.1016/s1474-4422(13)70302-8 · Cited by 209 · see citing works

Cardiovascular effects of physiological and standard sex steroid replacement regimens in premature ovarian failure

Langrish, J. P., Mills, N. L., Bath, L. E., Warner, P., Webb, D. J., Kelnar, C. J., Critchley, H. O. D., Newby, D. E., & Wallace, W. H. B. (2009) · Hypertension · doi:10.1161/hypertensionaha.108.126516 · Cited by 207 · see citing works

Evolution of vertebrate sex chromosomes and dosage compensation

Graves, J. A. M. (2015) · Nature Reviews Genetics · doi:10.1038/nrg.2015.2 · Cited by 205 · see citing works

Glucose metabolism, lipid metabolism, and cardiovascular risk factors in adult Turner's syndrome. The impact of sex hormone replacement

Gravholt, C. H., Naeraa, R. W., Nyholm, B., Gerdes, L. U., Christiansen, E., Schmitz, O., & Christiansen, J. S. (1998) · Diabetes Care · doi:10.2337/diacare.21.7.1062 · Cited by 204 · see citing works

Disrupted Intricacy of Histone H3K4 Methylation in Neurodevelopmental Disorders

Vallianatos, C. N., & Iwase, S. (2015) · Epigenomics · doi:10.2217/epi.15.1 · Cited by 202 · see citing works

Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study

Schoemaker, M. J., Swerdlow, A. J., Higgins, C. D., Wright, A. F., & Jacobs, P. A. (2008) · The Lancet Oncology · doi:10.1016/s1470-2045(08)70033-0 · Cited by 202 · see citing works

Chromosome abnormalities in human reproductive wastage

Hassold, T. J. (1986) · Trends in Genetics · doi:10.1016/0168-9525(86)90194-0 · Cited by 201 · see citing works

Anti-Müllerian Hormone in Female Reproduction

di Clemente, N., Racine, C., Pierre, A., & Taieb, J. (2021) · Endocrine Reviews · doi:10.1210/endrev/bnab012 · Cited by 201 · see citing works

Follicles Are Found in the Ovaries of Adolescent Girls with Turner's Syndrome

Hreinsson, J. G., Otala, M., Fridström, M., Borgström, B., Rasmussen, C., Lundqvist, M., Tuuri, T., Simberg, N. H., Mikkola, M., Dunkel, L., et al. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.8.8753 · Cited by 192 · see citing works

Pregnancy rate and outcome in Swedish women with Turner syndrome

Bryman, I., Sylvén, L., Berntorp, K., Innala, E., Bergström, I., Hanson, C., Oxholm, M., & Landin-Wilhelmsen, K. (2011) · Fertility and Sterility · doi:10.1016/j.fertnstert.2010.12.039 · Cited by 190 · see citing works

Persistent cognitive deficits in adult women with Turner syndrome

ROSS, J. L., Stefanatos, G. A., Kushner, H., Zinn, A. R., Bondy, C. A., & Roeltgen, D. P. (2002) · Neurology · doi:10.1212/wnl.58.2.218 · Cited by 188 · see citing works

Prenatal and postnatal prevalence of Turner's syndrome: a registry study

Gravholt, C. H., Juul, S., Naeraa, R. W., & Hansen, J. (1996) · BMJ · doi:10.1136/bmj.312.7022.16 · Cited by 187 · see citing works

Prevalence and Clinical Picture of Celiac Disease in Turner Syndrome

Bonamico, M., Pasquino, A. M., Mariani, P., Danesi, H. M., Culasso, F., Mazzanti, L., Petri, A., & Bona, G. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-020855 · Cited by 184 · see citing works

Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?

Held, K. R., Kerber, S., Kaminsky, E. B., Singh, S., Goetz, P., Seemanová, E., & GOEDDE, H. W. (1992) · Human Genetics · doi:10.1007/bf00197261 · Cited by 181 · see citing works

Smooth Muscle Cells Derived From Second Heart Field and Cardiac Neural Crest Reside in Spatially Distinct Domains in the Media of the Ascending Aorta—Brief Report

Sawada, H., Rateri, D. L., Moorleghen, J. J., Majesky, M. W., & Daugherty, A. (2017) · Arteriosclerosis, Thrombosis, and Vascular Biology · doi:10.1161/atvbaha.117.309599 · Cited by 181 · see citing works

Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study

Berglund, A., Viuff, M. H., Skakkebaek, A. H., Chang, S., Stochholm, K., & Gravholt, C. H. (2019) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-018-0976-2 · Cited by 179 · see citing works

Sex-chromosome dosage effects on gene expression in humans

Raznahan, A., Parikshak, N. N., Chandran, V., Blumenthal, J. D., Clasen, L. S., Alexander-Bloch, A. F., Zinn, A. R., Wangsa, D., Wise, J., Murphy, D. G. M., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1802889115 · Cited by 179 · see citing works

Autoimmune diseases in women with Turner's Syndrome

Jørgensen, K. T., Rostgaard, K., Bache, I., Biggar, R. J., Nielsen, N. M., Tommerup, N., & Frisch, M. (2010) · Arthritis & Rheumatism · doi:10.1002/art.27270 · Cited by 176 · see citing works

The effect of age on heart rate in subjects free of heart disease. Studies by ambulatory electrocardiography and maximal exercise stress test.

Kostis, J. B., Moreyra, A. E., Amendo, M. T., Pietro, J. D., Cosgrove, N. M., & Kuo, P. T. (1982) · Circulation · doi:10.1161/01.cir.65.1.141 · Cited by 173 · see citing works

Turner syndrome: four challenges across the lifespan

Sutton, E. J., McInerney‐Leo, A., Bondy, C. A., Gollust, S. E., King, D., & Biesecker, B. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30911 · Cited by 171 · see citing works

Autoimmune thyroid syndrome in women with Turner's syndrome—the association with karyotype

Elsheikh, M., Wass, J. A. H., & Conway, G. S. (2001) · Clinical Endocrinology · doi:10.1046/j.1365-2265.2001.01296.x · Cited by 171 · see citing works

Increased prevalence of autoimmunity in Turner syndrome – influence of age

Mortensen, K. H., Cleemann, L. H., Hjerrild, B., Nexø, E., Locht, H., Jeppesen, E. M., & Gravholt, C. H. (2009) · Clinical & Experimental Immunology · doi:10.1111/j.1365-2249.2009.03895.x · Cited by 170 · see citing works

Hypothyroidism is common in Turner syndrome: results of a five-year follow-up

El-Mansoury, M., Bryman, I., Berntorp, K., Hanson, C., Wilhelmsen, L., & Landin-Wilhelmsen, K. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-1262 · Cited by 166 · see citing works

Novel Perspectives for Progesterone in Hormone Replacement Therapy, with Special Reference to the Nervous System

Schumacher, M., Guennoun, R., Ghoumari, A. M., Massaad, C., Robert, F., El‐Etr, M., Akwa, Y., Rajkowski, K. M., & Baulieu, É.-É. (2007) · Endocrine Reviews · doi:10.1210/er.2006-0050 · Cited by 165 · see citing works

Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome

Sybert, V. P. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.3.217 · Cited by 165 · see citing works

Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy

a EUROCAT working group, Boyd, P. A., Loane, M. A., Garne, E., Khoshnood, B., & Dolk, H. M. (2010) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.148 · Cited by 164 · see citing works

The role of estrogen in cutaneous ageing and repair

Wilkinson, H. N., & Hardman, M. J. (2017) · Maturitas · doi:10.1016/j.maturitas.2017.06.026 · Cited by 162 · see citing works

X Inactivation and Escape: Epigenetic and Structural Features

Fang, H., Distèche, C. M., & Berletch, J. B. (2019) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2019.00219 · Cited by 162 · see citing works

Mendelian Disorders of the Epigenetic Machinery: Tipping the Balance of Chromatin States

Fahrner, J. A., & Bjornsson, H. T. (2014) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-090613-094245 · Cited by 161 · see citing works

The Turner syndrome life course project: karyotype-phenotype analyses across the lifespan

Cameron‐ Pimblett, A., La Rosa, C., King, T. F. J., Davies, M. C., & Conway, G. S. (2017) · Clinical Endocrinology · doi:10.1111/cen.13394 · Cited by 161 · see citing works

Neck web and congenital heart defects: a pathogenic association in 45 X-O Turner syndrome?

Clark, E. B. (1984) · Teratology · doi:10.1002/tera.1420290305 · Cited by 160 · see citing works

Atrial myocardium derives from the posterior region of the second heart field, which acquires left-right identity as Pitx2c is expressed

Galli, D., Dominguez, J. N., Zaffran, S., Munk, A. A., Brown, N. A., & BUCKINGHAM, M. E. (2008) · Development · doi:10.1242/dev.014563 · Cited by 160 · see citing works

Aortic Valve Disease in Turner Syndrome

Sachdev, V., Matura, L. A., Sidenko, S., Ho, V. B., Arai, A. E., Rosing, D. R., & Bondy, C. A. (2008) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2008.02.035 · Cited by 160 · see citing works

The Biology and Evolution of Mammalian Y Chromosomes

Hughes, J. F., & Page, D. C. (2015) · Annual Review of Genetics · doi:10.1146/annurev-genet-112414-055311 · Cited by 159 · see citing works

Mechanical regulation of cardiac development

Lindsey, S. E. (2014) · Frontiers in Physiology · doi:10.3389/fphys.2014.00318 · Cited by 159 · see citing works

Normalization of Height in Girls with Turner Syndrome after Long-Term Growth Hormone Treatment: Results of a Randomized Dose-Response Trial1

Sas, T., Keizer‐Schrama, S. M. P. F. D. M., Stijnen, T., Jansen, M., Otten, B. J., Hoorweg-Nijman, J. J. G., Vulsma, T., Massa, G., Rouwé, C. W., Reeser, H. M., et al. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.12.6241 · Cited by 158 · see citing works

Osteoporosis and fractures in Turner syndrome–importance of growth promoting and oestrogen therapy

Landin‐Wilhelmsen, K., Bryman, I., Windh, M., & Wilhelmsen, L. (1999) · Clinical Endocrinology · doi:10.1046/j.1365-2265.1999.00841.x · Cited by 156 · see citing works

Cancer risks in patients treated with growth hormone in childhood: the SAGhE European cohort study

Swerdlow, A. J., Cooke, R., Beckers, D., Borgström, B., Butler, G., Carel, J.-C., Cianfarani, S., Clayton, P., Coste, J., Deodati, A., et al. (2017) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2016-2046 · Cited by 153 · see citing works

Estrogen replacement in Turner syndrome: literature review and practical considerations

Klein, K. O., Rosenfield, R. L., Santen, R. J., Gawlik, A. M., Backeljauw, P. F., Gravholt, C. H., Sas, T. C. J., & Mauras, N. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2017-02183 · Cited by 151 · see citing works

Widespread DNA hypomethylation and differential gene expression in Turner syndrome

Trolle, C., Nielsen, M. M., Skakkebæk, A., Lamy, P., Vang, S., Hedegaard, J., Nordentoft, I., Ørntoft, T. F., Pedersen, J. S., & Gravholt, C. H. (2016) · Scientific Reports · doi:10.1038/srep34220 · Cited by 149 · see citing works

Number of ovarian follicles in human fetuses with the 45,x karyotype

Reynaud, K., Cortvrindt, R. G., Verlinde, F., Schepper, J. D., Bourgain, C., & Smitz, J. E. J. (2004) · Fertility and Sterility · doi:10.1016/j.fertnstert.2003.12.011 · Cited by 146 · see citing works

Neural crest cells are required for correct positioning of the developing outflow cushions and pattern the arterial valve leaflets

Phillips, H. M., Mahendran, P., Singh, E., Anderson, R. H., Chaudhry, B., & Henderson, D. J. (2013) · Cardiovascular Research · doi:10.1093/cvr/cvt132 · Cited by 146 · see citing works

Mosaic Turner syndrome shows reduced penetrance in an adult population study

Tuke, M. A., Ruth, K. S., Wood, A. R., Beaumont, R. N., Tyrrell, J., Jones, S. E., Yaghootkar, H., Turner, C., Donohoe, M. E., Brooke, A. M., et al. (2018) · Genetics in Medicine · doi:10.1038/s41436-018-0271-6 · Cited by 146 · see citing works

Variational autoencoders for cancer data integration: design principles and computational practice

Simidjievski, N., Bodnar, C., Tariq, I., Scherer, P., Andres Terre, H., Shams, Z., Jamnik, M., & Liò, P. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.01205 · Cited by 145 · see citing works

Vascular involvement of the liver in Turner's syndrome

Roulot, D., Degott, C., Chazouillères, O., Oberti, F., Calès, P., Carbonell, N., Benferhat, S., Bresson-Hadni, S., & Valla, D. (2004) · Hepatology · doi:10.1002/hep.20026 · Cited by 143 · see citing works

Selective Progesterone Receptor Modulators—Mechanisms and Therapeutic Utility

Islam, M. S., Afrin, S., Jones, S. I., & Segars, J. (2020) · Endocrine Reviews · doi:10.1210/endrev/bnaa012 · Cited by 143 · see citing works

Materno-fetal cardiovascular complications in Turner syndrome after oocyte donation: insufficient prepregnancy screening and pregnancy follow-up are associated with poor outcome

Chevalier, N., Letur, H., Lelannou, D., Ohl, J., Cornet, D., Chalas-Boissonnas, C., Frydman, R., Catteau-Jonard, S., Greck-Chassain, T., Papaxanthos-Roche, A., et al. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-0925 · Cited by 142 · see citing works

Autoimmune disorders in women with turner syndrome and women with karyotypically normal primary ovarian insufficiency

Bakalov, V. K., Gutin, L. S., Cheng, C. M., Zhou, J., Sheth, P., Shah, K. R., Arepalli, S., Vanderhoof, V. H., Nelson, L. M., & Bondy, C. A. (2012) · Journal of Autoimmunity · doi:10.1016/j.jaut.2012.01.015 · Cited by 140 · see citing works

Population Screening for Genetic Disorders in the 21st Century: Evidence, Economics, and Ethics

Grosse, S. D., Rogowski, W. H., Ross, L. F., Cornel, M. C., Dondorp, W., & Khoury, M. J. (2009) · Public Health Genomics · doi:10.1159/000226594 · Cited by 139 · see citing works

Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature

Jeon, K. C., Chen, L.-S., & Goodson, P. (2012) · Genetics in Medicine · doi:10.1038/gim.0b013e31822e57a7 · Cited by 139 · see citing works

Malignant potential of the dysgenetic gonad. Part 1.

Hf, S. (1974) · PubMed · Cited by 139 · see citing works

The epidemiology of sex chromosome abnormalities

Berglund, A., Stochholm, K., & Gravholt, C. H. (2020) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31805 · Cited by 139 · see citing works

Ear and hearing in relation to genotype and growth in Turner syndrome

Barrenäs, M., Landin‐Wilhelmsen, K., & Hanson, C. (2000) · Hearing Research · doi:10.1016/s0378-5955(00)00040-x · Cited by 137 · see citing works

Impaired insulin secretion in the Turner metabolic syndrome

Bakalov, V. K., Cooley, M. M., Quon, M. J., Luo, M. L., Yanovski, J. A., Nelson, L. M., Sullivan, G., & Bondy, C. A. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-0122 · Cited by 137 · see citing works

A Track Record on SHOX: From Basic Research to Complex Models and Therapy

Marchini, A., Ogata, T., & Rappold, G. (2016) · Endocrine Reviews · doi:10.1210/er.2016-1036 · Cited by 136 · see citing works

The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2 [published erratum appears in Hum Mol Genet 1997 Feb;6(2):334-5]

Jones, M. H. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.11.1695 · Cited by 135 · see citing works

Quality of Life Determinants in Young Women with Turner’s Syndrome after Growth Hormone Treatment: Results of the StaTur Population-Based Cohort Study

Carel, J., Écosse, E., Bastié-Sigeac, I., Cabrol, S., Tauber, M., Léger, J., Nicolino, M. P., Brauner, R., Chaussain, J., & Coste, J. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-1395 · Cited by 132 · see citing works

X-chromosome inactivation may explain the difference in viability of XO humans and mice

Ashworth, A., Rastan, S., Lovell-Badge, R. H., & Kay, G. F. (1991) · Nature · doi:10.1038/351406a0 · Cited by 130 · see citing works

Increased fracture rates in Turner's syndrome: a nationwide questionnaire survey

Gravholt, C. H., Vestergaard, P., Hermann, A. P., Mosekilde, L., Brixen, K., & Christiansen, J. S. (2003) · Clinical Endocrinology · doi:10.1046/j.1365-2265.2003.01807.x · Cited by 130 · see citing works

Oogenesis: Transcriptional regulators and mouse models

Jagarlamudi, K., & Rajkovic, A. (2011) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2011.07.049 · Cited by 127 · see citing works

Normal Bone Density of the Wrist and Spine and Increased Wrist Fractures in Girls with Turner’s Syndrome

ROSS, J. L., Long, L. M., Feuillan, P., Cassorla, F. G., & Cutler, G. B. (1991) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-73-2-355 · Cited by 126 · see citing works

A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions

Lachlan, K. L., Youings, S. A., Costa, T., Jacobs, P. A., & Thomas, N. S. (2005) · Human Genetics · doi:10.1007/s00439-005-0081-1 · Cited by 126 · see citing works

Cardiovascular anomalies in Turner syndrome: spectrum, prevalence, and cardiac MRI findings in a pediatric and young adult population

Kim, H. K., Gottliebson, W., Hor, K., Backeljauw, P., Gutmark-Little, I., Salisbury, S. R., Racadio, J. M., Helton-Skally, K., & Fleck, R. (2011) · American Journal of Roentgenology · doi:10.2214/ajr.10.4973 · Cited by 126 · see citing works

AMH as predictor of premature ovarian insufficiency: a longitudinal study of 120 Turner syndrome patients

Lunding, S. A., Aksglaede, L., Anderson, R. A., Main, K. M., Juul, A., Hagen, C. P., & Pedersen, A. T. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-1621 · Cited by 125 · see citing works

A novel role for cardiac neural crest in heart development

Waldo, K. L., Zdanowicz, M., Burch, J. L., Kumiski, D. H., Stadt, H. A., Godt, R. E., Creazzo, T. L., & Kirby, M. L. (1999) · Journal of Clinical Investigation · doi:10.1172/jci6501 · Cited by 125 · see citing works

Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome

El‐Mansoury, M., Barrenäs, M., Bryman, I., Hanson, C., Larsson, C., Wilhelmsen, L., & Landin‐Wilhelmsen, K. (2007) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2007.02807.x · Cited by 122 · see citing works

X chromosome dosage of histone demethylase KDM5C determines sex differences in adiposity

Link, J. C., Wiese, C. B., Chen, X., Avetisyan, R., Ronquillo, E., Ma, F., Guo, X., Yao, J., Allison, M., Chen, Y.-D. I., et al. (2020) · Journal of Clinical Investigation · doi:10.1172/jci140223 · Cited by 121 · see citing works

Association between fetal lymphedema and congenital cardiovascular defects in Turner syndrome

Loscalzo, M. L. (2005) · PEDIATRICS · doi:10.1542/peds.2004-1369 · Cited by 120 · see citing works

Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome

Freriks, K., Timmermans, J., Beerendonk, C. C. M., Verhaak, C. M., Netea-Maier, R. T., Otten, B. J., Braat, D. D. M., Smeets, D. F. C. M., Kunst, D. H. P. M., Hermus, A. R. M. M., et al. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-0346 · Cited by 120 · see citing works

Androgens During the Reproductive Years: What Is Normal for Women?

Skiba, M. A., Bell, R. J., Islam, R. M., Handelsman, D. J., Desai, R., & Davis, S. R. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2019-01357 · Cited by 119 · see citing works

Single-cell analysis of human embryos reveals diverse patterns of aneuploidy and mosaicismPreprint

Starostik, M. R., Sosina, O., & McCoy, R. (2020) · bioRxiv · doi:10.1101/gr.262774.120 · Cited by 119 · see citing works

Obstetric and neonatal outcome after oocyte donation in 106 women with Turner syndrome: a Nordic cohort study

Hagman, A., Loft, A., Wennerholm, U.-B., Pinborg, A., Bergh, C., Aittomaki, K., Nygren, K.-G., Bente Romundstad, L., Hazekamp, J., & Soderstrom-Anttila, V. (2013) · Human Reproduction · doi:10.1093/humrep/det082 · Cited by 118 · see citing works

X-chromosome gene dosage and the risk of diabetes in Turner syndrome

Bakalov, V. K., Cheng, C., Zhou, J., & Bondy, C. A. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-0384 · Cited by 118 · see citing works

Studying Early Lethality of 45,XO (Turner's Syndrome) Embryos Using Human Embryonic Stem Cells

Urbach, A., & Benvenisty, N. (2009) · PLoS ONE · doi:10.1371/journal.pone.0004175 · Cited by 117 · see citing works

<i>In vivo</i> stimulation of oestrogen receptor α increases insulin‐stimulated skeletal muscle glucose uptake

Gorres, B. K., Bomhoff, G. L., Morris, J. K., & Geiger, P. C. (2011) · The Journal of Physiology · doi:10.1113/jphysiol.2010.199018 · Cited by 116 · see citing works

Risk of solid tumors and hematological malignancy in persons with Turner and klinefelter syndromes: a national cohort study

Ji, J., Zöller, B., Sundquist, J., & Sundquist, K. (2016) · International Journal of Cancer · doi:10.1002/ijc.30126 · Cited by 116 · see citing works

FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty

Hagen, C. P., Main, K. M., Kjaergaard, S., & Juul, A. (2010) · Human Reproduction · doi:10.1093/humrep/deq291 · Cited by 114 · see citing works

Cardiac malformations and hypertension, but not metabolic risk factors, are common in Turner syndrome

Landin-Wilhelmsen, K., Bryman, I., & Wilhelmsen, L. (2001) · The Journal of Clinical Endocrinology &amp; Metabolism · doi:10.1210/jcem.86.9.7818 · Cited by 113 · see citing works

Near Normalization of Final Height with Adapted Doses of Growth Hormone in Turner's Syndrome

Carel, J., Mathivon, L., Gendrel, C., Jp, D., & Chaussain, J. (1998) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.83.5.4777 · Cited by 113 · see citing works

Body composition is distinctly altered in Turner syndrome: relations to glucose metabolism, circulating adipokines, and endothelial adhesion molecules

Gravholt, C. H., Hjerrild, B., Mosekilde, L., Hansen, T. K., Rasmussen, L. M., Frystyk, J., Flyvbjerg, A., & Christiansen, J. S. (2006) · European Journal of Endocrinology · doi:10.1530/eje.1.02267 · Cited by 112 · see citing works

DNA hypermethylation and differential gene expression associated with Klinefelter syndrome

Skakkebaek, A. H., Nielsen, M. M., Trolle, C., Vang, S., Hornshøj, H., Hedegaard, J., Wallentin, M., Bojesen, A., Hertz, J. M., Fedder, J., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-31780-0 · Cited by 112 · see citing works

Hormone replacement therapy may improve hepatic function in women with Turner's syndrome

Elsheikh, M., Hodgson, H. J. F., Wass, J. A. H., & Conway, G. S. (2001) · Clinical Endocrinology · doi:10.1046/j.1365-2265.2001.01321.x · Cited by 109 · see citing works

Population cytogenetic investigation of newborns in Moscow

Бочков, Н. П., Кулешов, Н. П., Chebotarev, A. N., Vi, A., & Midian, S. A. (1974) · Human Genetics · doi:10.1007/bf00278453 · Cited by 106 · see citing works

The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype.

Mathur, A., Stekol, L., Schatz, D., Maclaren, N. K., Scott, M. L., & Lippe, B. M. (1991) · PubMed · Cited by 106 · see citing works

A dose‐response study of hormone replacement in young hypogonadal women: effects on intima media thickness and metabolism

Ostberg, J. E., Storry, C., Donald, A. E., Hosseinzadeh‐Attar, M. J., Halcox, J., & Conway, G. S. (2007) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2007.02772.x · Cited by 106 · see citing works

A cytogenetic survey of 14,835 consecutive liveborns

Maeda, T., Ohno, M., Matsunobu, A., Yoshihara, K., & Yabe, N. (1991) · The Japanese Journal of Human Genetics · doi:10.1007/bf01876812 · Cited by 103 · see citing works

Reduced androgen levels in adult Turner syndrome: influence of female sex steroids and growth hormone status

Gravholt, C. H., Svenstrup, B., Bennett, P., & Christiansen, J. S. (1999) · Clinical Endocrinology · doi:10.1046/j.1365-2265.1999.00720.x · Cited by 103 · see citing works

Influence of X Chromosome and Hormones on Human Brain Development: A Magnetic Resonance Imaging and Proton Magnetic Resonance Spectroscopy Study of Turner Syndrome

Cutter, W. J., Daly, E., Robertson, D., Chitnis, X. A., van Amelsvoort, T., Simmons, A., Ng, V., Williams, B. S., Shaw, P., Conway, G. S., et al. (2005) · Biological Psychiatry · doi:10.1016/j.biopsych.2005.06.026 · Cited by 103 · see citing works

Lipid abnormalities in Turner syndrome

ROSS, J. L., Feuillan, P., Long, L., Kowal, K., Kushner, H., & Cutler, G. B. (1995) · The Journal of Pediatrics · doi:10.1016/s0022-3476(95)70551-1 · Cited by 101 · see citing works

The Eutherian Pseudoautosomal Region

Raudsepp, T., & Chowdhary, B. P. (2015) · Cytogenetic and Genome Research · doi:10.1159/000443157 · Cited by 101 · see citing works

Integrated functional genomic analyses of Klinefelter and Turner syndromes reveal global network effects of altered X chromosome dosage

Zhang, X., Hong, D., Ma, S., Ward, T., Ho, M., Pattni, R., Duren, Z., Stankov, A., Bade Shrestha, S., Hallmayer, J., et al. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1910003117 · Cited by 101 · see citing works

Ear and hearing problems in 44 middle-aged women with Turner's syndrome

Hultcrantz, M., Sylvén, L., & Borg, E. (1994) · Hearing Research · doi:10.1016/0378-5955(94)90094-9 · Cited by 100 · see citing works

Prevalence of Noncardiac and Genetic Abnormalities in Neonates Undergoing Cardiac Operations: Analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database

Patel, A., Costello, J. M., Backer, C. L., Pasquali, S. K., Hill, K. D., Wallace, A. S., Jacobs, J. P., & Jacobs, M. L. (2016) · The Annals of Thoracic Surgery · doi:10.1016/j.athoracsur.2016.04.008 · Cited by 100 · see citing works

Metabolic Effects of Oral Versus Transdermal 17β-Estradiol (E2): A Randomized Clinical Trial in Girls With Turner Syndrome

Torres-Santiago, L., Mericq, V., Taboada, M., Unanue, N., Klein, K. O., Singh, R., Hossain, J., Santen, R. J., Ross, J. L., & Mauras, N. (2013) · The Journal of Clinical Endocrinology &amp; Metabolism · doi:10.1210/jc.2012-4243 · Cited by 99 · see citing works

Clinical Significance of the Parental Origin of the X Chromosome in Turner Syndrome

Sagi, L., Zuckerman‐Levin, N., Gawlik, A., Ghizzoni, L., Büyükgebiz, A., Tenenbaum‐Rakover, Y., Bistritzer, T., Admoni, O., Vottero, A., Baruch, O., et al. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-0158 · Cited by 98 · see citing works

Long-term mortality after childhood growth hormone treatment: the SAGhE cohort study

Savendahl, L. S., Cooke, R., Tidblad, A., Beckers, D., Butler, G. E., Cianfarani, S., Clayton, P., Coste, J., Hokken-Koelega, A., Kieß, W., et al. (2020) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(20)30163-7 · Cited by 98 · see citing works

Quality of Life after Growth Hormone Therapy and Induced Puberty in Women with Turner Syndrome

Bannink, E. M. N., Raat, H., Mulder, P. G. H., & Keizer‐Schrama, S. M. P. F. D. M. (2006) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2005.08.043 · Cited by 97 · see citing works

SHOX haploinsufficiency as a cause of syndromic and nonsyndromic short stature

Fukami, M., Seki, A., & Ogata, T. (2016) · Molecular Syndromology · doi:10.1159/000444596 · Cited by 97 · see citing works

Ascending aortic elongation and the risk of dissection

Krüger, T., Forkavets, O., Veseli, K., Lausberg, H., Vöhringer, L., Schneider, W., Bamberg, F., & Schlensak, C. (2016) · European Journal of Cardio-Thoracic Surgery · doi:10.1093/ejcts/ezw025 · Cited by 94 · see citing works

The impact of obesity on cardiovascular risk factors in Turner's syndrome

Elsheikh, M., & Conway, G. S. (1998) · Clinical Endocrinology · doi:10.1046/j.1365-2265.1998.00552.x · Cited by 93 · see citing works

Growth Failure in Early Life: An Important Manifestation of Turner Syndrome

Davenport, M. L., Punyasavatsut, N., Stewart, P. W., Gunther, D. F., Savendahl, L. S., & Sybert, V. P. (2002) · Hormone Research in Paediatrics · doi:10.1159/000058376 · Cited by 93 · see citing works

Reproductive lifespan in irradiated and unirradiated chromosomally XO mice

Lyon, M. F., & Hawker, S. G. (1973) · Genetics Research · doi:10.1017/s0016672300013355 · Cited by 93 · see citing works

Abnormalities of the major intrathoracic arteries in Turner syndrome as revealed by magnetic resonance imaging

Mortensen, K. H., Hjerrild, B. E., Andersen, N. H., Sørensen, K. E., Hørlyck, A., Pedersen, E. M., Lundorf, E., Christiansen, J. S., & Gravholt, C. H. (2010) · Cardiology in the Young · doi:10.1017/s1047951110000041 · Cited by 93 · see citing works

Reference values for body proportions and body composition in adult women with Ullrich-Turner syndrome

Gravholt, C. H., & Næraa, R. W. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19971112)72:4 · Cited by 92 · see citing works

Anti-Mullerian hormone levels in girls and adolescents with Turner syndrome are related to karyotype, pubertal development and growth hormone treatment

Visser, J., Hokken‐Koelega, A. C. S., Zandwijken, G. R. J., Limacher, A., Ranke, M., & Flück, C. E. (2013) · Human Reproduction · doi:10.1093/humrep/det089 · Cited by 91 · see citing works

Nocturnal hypertension and impaired sympathovagal tone in Turner syndrome

Gravholt, C. H., Hansen, K. W., Erlandsen, M., Ebbehøj, E., & Christiansen, J. S. (2006) · Journal of Hypertension · doi:10.1097/01.hjh.0000200509.17947.0f · Cited by 90 · see citing works

The prevalence of genetic diagnoses in fetuses with severe congenital heart defects

van Nisselrooij, A. E. L., Lugthart, M. A., Clur, S. B., Linskens, I. H., Pajkrt, E., Rammeloo, L. A. J., Rozendaal, L., Blom, N. A., Lith, J. M. M. V., Knegt, A. C., et al. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-0791-8 · Cited by 90 · see citing works

Monosomy for the X-Chromosome Is Associated with an Atherogenic Lipid Profile

Van, P. L., Bakalov, V. K., & Bondy, C. A. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-0503 · Cited by 89 · see citing works

TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome

Corbitt, H., Morris, S. A., Gravholt, C. H., Mortensen, K. H., Tippner-Hedges, R., Silberbach, M., Maslen, C. L., & GenTAC Registry Investigators (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007692 · Cited by 88 · see citing works

Bone mineral density and fractures in Turner syndrome

Bakalov, V. K., Chen, M. L., Baron, J., Hanton, L., Reynolds, J. C., Stratakis, C. A., Axelrod, L., & Bondy, C. A. (2003) · The American Journal of Medicine · doi:10.1016/s0002-9343(03)00364-4 · Cited by 87 · see citing works

Differential expression of MMP-2, MMP-9 and TIMP proteins in thoracic aortic aneurysm – comparison with and without bicuspid aortic valve: a meta-analysis

Rabkin, S. W. (2014) · VASA · doi:10.1024/0301-1526/a000390 · Cited by 87 · see citing works

Effect of exogenous estrogen on serum pregnenolone, cortisol, and androgens in postmenopausal women.

Abraham, G. E., & Maroulis, G. B. (1975) · PubMed · Cited by 86 · see citing works

Autoimmunity and Turner's syndrome

Lleò, A., Moroni, L., Caliari, L., & Invernizzi, P. (2011) · Autoimmunity Reviews · doi:10.1016/j.autrev.2011.11.015 · Cited by 86 · see citing works

The Effect of Hormone Replacement Therapy on Cardiovascular Hemodynamics in Women with Turner's Syndrome

Elsheikh, M., Bird, R., Casadei, B., Conway, G. S., & Wass, J. A. H. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.2.6384 · Cited by 86 · see citing works

Profile and localization of matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) in human heart valves.

Dreger, S. A., Taylor, P. M., Allen, S. P., & Yacoub, M. H. (2002) · PubMed · Cited by 86 · see citing works

Characterization of follicles in girls and young women with Turner syndrome who underwent ovarian tissue cryopreservation

Mamsen, L. S., Charkiewicz, K., Anderson, R. A., Telfer, E. E., McLaughlin, M., Kelsey, T. W., Kristensen, S. G., Gook, D. A., Ernst, E., & Andersen, C. Y. (2019) · Fertility and Sterility · doi:10.1016/j.fertnstert.2019.02.003 · Cited by 86 · see citing works

Testosterone Reference Ranges in Normally Cycling Healthy Premenopausal Women

Braunstein, G. D., Reitz, R. E., Buch, A., Schnell, D., & Caulfield, M. P. (2011) · The Journal of Sexual Medicine · doi:10.1111/j.1743-6109.2011.02380.x · Cited by 85 · see citing works

Pathogenic Mechanisms of Bicuspid Aortic Valve Aortopathy

Yassine, N. M., Shahram, J. T., & Body, S. C. (2017) · Frontiers in Physiology · doi:10.3389/fphys.2017.00687 · Cited by 85 · see citing works

Retarded development of XO conceptuses during early pregnancy in the mouse

Burgoyne, P. S., Tam, P. P. L., & Evans, E. P. (1983) · Reproduction · doi:10.1530/jrf.0.0680387 · Cited by 83 · see citing works

T follicular helper cell-dependent clearance of a persistent virus infection requires T cell expression of the histone demethylase UTX

Cook, K. D., Shpargel, K. B., Starmer, J., Whitfield-Larry, F., Conley, B., Allard, D. E., Rager, J. E., Fry, R. C., Davenport, M. L., Magnuson, T., et al. (2015) · Immunity · doi:10.1016/j.immuni.2015.09.002 · Cited by 83 · see citing works

Excess Visceral and Hepatic Adipose Tissue in Turner Syndrome Determined by Magnetic Resonance Imaging: Estrogen Deficiency Associated with Hepatic Adipose Content

Ostberg, J. E., Thomas, E. L., Hamilton, G., Hosseinzadeh‐Attar, M. J., Bell, J. D., & Conway, G. S. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-1939 · Cited by 83 · see citing works

Pharmacokinetics and Pharmacodynamics of Oral and Transdermal 17β Estradiol in Girls with Turner Syndrome

Taboada, M., Santen, R., Lima, J., Hossain, J., Singh, R., Klein, K. O., & Mauras, N. (2011) · The Journal of Clinical Endocrinology &amp; Metabolism · doi:10.1210/jc.2011-1449 · Cited by 82 · see citing works

A characteristic cluster of fetal sonographic markers that are predictive of fetal Turner syndrome in early pregnancy

Bronshtein, M., Zimmer, E. Z., & Blazer, S. (2003) · American Journal of Obstetrics and Gynecology · doi:10.1067/mob.2003.230 · Cited by 82 · see citing works

Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome

Castronovo, C., Rossetti, R., Rusconi, D., Recalcati, M. P., Cacciatore, C., Beccaria, E., Calcaterra, V., Invernizzi, P., Larizza, D., Finelli, P., et al. (2013) · Human Reproduction · doi:10.1093/humrep/det436 · Cited by 82 · see citing works

DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations

Sharma, A., Jamil, M. A., Nuesgen, N., Schreiner, F., Priebe, L., Hoffmann, P., Herns, S., Nöthen, M. M., Fröhlich, H., Oldenburg, J., et al. (2015) · Clinical Epigenetics · doi:10.1186/s13148-015-0112-2 · Cited by 81 · see citing works

The influence of renal and cardiovascular abnormalities on blood pressure in Turner syndrome

Nathwani, Unwin, Brook, & Hindmarsh (2000) · Clinical Endocrinology · doi:10.1046/j.1365-2265.2000.00961.x · Cited by 80 · see citing works

Spontaneous, But Not Induced, Puberty Permits Adequate Bone Mass Acquisition in Adolescent Turner Syndrome Patients

Carrascosa, A., Gussinyé, M., Terradas-Montana, P., Yeste, D., Audı́, L., & Vicens-Calvet, E. (2000) · Journal of Bone and Mineral Research · doi:10.1359/jbmr.2000.15.10.2005 · Cited by 80 · see citing works

Safety outcomes during pediatric GH therapy: final results from the prospective GeNeSIS observational program

Child, C. J., Zimmermann, A. G., Chrousos, G. P., Cummings, E., Deal, C. L., Hasegawa, T., Jia, N., Lawrence, S., Linglart, A., Loche, S., et al. (2019) · The Journal of Clinical Endocrinology &amp; Metabolism · doi:10.1210/jc.2018-01189 · Cited by 80 · see citing works

Use of Percutaneous Estrogen Gel for Induction of Puberty in Girls with Turner Syndrome

Piippo, S., Lenko, H. L., Kainulainen, P., & Sipilä, I. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-032069 · Cited by 79 · see citing works

Determinants of medical care for young women with Turner syndrome

Devernay, M., Ecosse, E., Coste, J., & Carel, J.-C. (2009) · The Journal of Clinical Endocrinology &amp; Metabolism · doi:10.1210/jc.2009-0495 · Cited by 79 · see citing works

Shone Complex: An Under-recognized Congenital Heart Disease With Substantial Morbidity in Adulthood

Aslam, S., Khairy, P., Shohoudi, A., Mercier, L., Dore, A., Marcotte, F., Miró, J., Ávila, P., Ibrahim, R., Asgar, A., et al. (2016) · Canadian Journal of Cardiology · doi:10.1016/j.cjca.2016.09.005 · Cited by 79 · see citing works

ZFX acts as a transcriptional activator in multiple types of human tumors by binding downstream from transcription start sites at the majority of CpG island promotersPreprint

Rhie, S. K., Yao, L., Luo, Z., Witt, H. N., Schreiner, S., Guo, Y., Perez, A. A., & Farnham, P. (2018) · Genome Research · doi:10.1101/gr.228809.117 · Cited by 79 · see citing works

Clinical practice guidelines for the care of girls and women with Turner syndrome.

Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224 · see citing works

Organ Abnormalities Caused by Turner Syndrome

Yoon, S. H., Kim, G. Y., Choi, G. T., & Tae, J. (2023) · Cells · doi:10.3390/cells12101365 · Cited by 41 · see citing works

Society for endocrinology guideline for understanding, diagnosing and treating female hypogonadism

Jayasena, C. N., Devine, K., Barber, K., Comninos, A. N., Conway, G. S., Crown, A. L., Davies, M. C., Ewart, A., Seal, L., Smyth, A., et al. (2024) · Clinical Endocrinology · doi:10.1111/cen.15097 · Cited by 39 · see citing works

The risk factors, pathogenesis and treatment of premature ovarian insufficiency

Huang, Y., Liu, Z., Geng, Y., Li, F., Hu, R., Song, Y., Zhang, M., & Song, K. (2025) · Journal of Ovarian Research · doi:10.1186/s13048-025-01714-2 · Cited by 37 · see citing works

Out of the Silence: Insights into How Genes Escape X-Chromosome Inactivation

Peeters, S. B., Posynick, B. J., & Brown, C. J. (2023) · Epigenomes · doi:10.3390/epigenomes7040029 · Cited by 33 · see citing works

Clinical pregnancy in Turner syndrome following re-implantation of cryopreserved ovarian cortex

Dunlop, C. E., Jack, S., Telfer, E. E., Zahra, S., & Anderson, R. (2023) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-023-02905-w · Cited by 32 · see citing works

Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: a report from the national birth defects prevention network

Martin‐Giacalone, B. A., Lin, A. E., Rasmussen, S. A., Kirby, R. S., Nestoridi, E., Liberman, R. F., Agopian, A. J., Carey, J. C., Cragan, J. D., Forestieri, N., et al. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63181 · Cited by 28 · see citing works

The impact of chromosomal sex on cardiometabolic health and disease

Wiese, C. B., Avetisyan, R., & Reue, K. (2023) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2023.07.003 · Cited by 28 · see citing works

Sex chromosome aneuploidies give rise to changes in the circular RNA profile: A circular transcriptome-wide study of Turner and Klinefelter syndrome across different tissues

Johannsen, E. B., Just, J., Viuff, M. H., Okholm, T. L. H., Pedersen, S. B., Lauritsen, K. M., Trolle, C., Pedersen, M. G. B., Chang, S., Fedder, J., et al. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.928874 · Cited by 24 · see citing works

Turner Syndrome where are we?

Khan, N., Farooqui, A., & Ishrat, R. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03337-0 · Cited by 19 · see citing works

The epidemiology of disorders of sex development

Berglund, A., Chang, S., Lind‐Holst, M., Stochholm, K., & Gravholt, C. H. (2025) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2025.102002 · Cited by 17 · see citing works

Primary Amenorrhea and Premature Ovarian Insufficiency

Yatsenko, S. A., Witchel, S. F., & Gordon, C. M. (2024) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2024.01.009 · Cited by 17 · see citing works

A prospective study of lipids in adult women with Turner syndrome

Sandahl, K. J., Just, J., Erlandsen, M., Mortensen, K. H., Andersen, N. H., & Gravholt, C. H. (2023) · Journal of the Endocrine Society · doi:10.1210/jendso/bvad124 · Cited by 14 · see citing works

XYGO: proposing a new holistic measure of gender identity and sexual orientation

Cristofaro, A. D., Jannini, T. B., Colonnello, E., Limoncin, E., Mollaioli, D., Ciocca, G., Sansone, A., & Jannini, E. A. (2025) · Nature Reviews Urology · doi:10.1038/s41585-025-01041-7 · Cited by 14 · see citing works

Complete or partial loss of the Y chromosome in an unselected cohort of 865 non-vasectomized, azoospermic men

Fedder, J., Fagerberg, C. R., Jørgensen, M. W., Gravholt, C. H., Berglund, A., Knudsen, U. B., & Skakkebaek, A. H. (2023) · Basic and Clinical Andrology · doi:10.1186/s12610-023-00212-z · Cited by 13 · see citing works

Turner syndrome: fertility counselling in childhood and through the reproductive lifespan

Bollig, K. J., Mainigi, M. A., Senapati, S., Lin, A. E., Levitsky, L. L., & Bamba, V. (2022) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0000000000000784 · Cited by 13 · see citing works

Oocyte cryopreservation with in vitro maturation for fertility preservation in girls at risk for ovarian insufficiency

Gayete-Lafuente, S., Turan, V., & Oktay, K. (2023) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-023-02932-7 · Cited by 12 · see citing works

Evaluating the relationship between the proportion of X-chromosome deletions and clinical manifestations in children with turner syndrome

Wang, G., Liu, X., Wang, M., Wang, J., Zhang, Z., Allegaert, K., Mei, D., Zhang, Y., Luo, S., Fang, Y., et al. (2024) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1324160 · Cited by 9 · see citing works

Maternal cardiovascular morbidity and mortality associated with pregnancy in individuals with Turner syndrome: a committee opinion

(2024) · Fertility and Sterility · doi:10.1016/j.fertnstert.2024.06.003 · Cited by 11 · see citing works

All-cause mortality and death by aortic dissection in women with Turner syndrome: A national clinical cohort study

Thunström, S., Thunström, E. Ö., Naessén, S., Berntorp, K. E., Kitlinski, M. L., Ekman, B., Wahlberg, J., Bergström, I. B., Isaksson, M., Basic, C., et al. (2024) · American Heart Journal · doi:10.1016/j.ahj.2024.11.007 · Cited by 9 · see citing works

Karyotype and phenotype association in Turner syndrome with non‐mosaic X chromosome structural rearrangements: Systematic review

Tanoshima, M., Tanoshima, R., Takase, H., Yamamoto, D., Aoki, S., Sakakibara, H., & Miyagi, E. (2025) · Congenital Anomalies · doi:10.1111/cga.70002 · Cited by 9 · see citing works

Schizophrenia in Women

Seeman, M. V. (2023) · Psychiatric Clinics of North America · doi:10.1016/j.psc.2023.04.005 · Cited by 9 · see citing works

Turner syndrome-omphalocele association: incidence, karyotype, phenotype and fetal outcome

Bedei, I., Gloning, K., Joyeux, L., Meyer‐Wittkopf, M., Willner, D., Krapp, M., Scharf, A., Degenhardt, J., Heling, K., Kozlowski, P., et al. (2023) · Prenatal Diagnosis · doi:10.1002/pd.6302 · Cited by 8 · see citing works

Individuals with numerical and structural variations of sex chromosomes: interdisciplinary management with focus on fertility potential

Juul, A., Gravholt, C. H., Vos, M. D., Koledova, E. B., & Cools, M. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1160884 · Cited by 8 · see citing works

Analysis of genetic variability in Turner syndrome linked to long-term clinical features

Suntharalingham, J. P., Ishida, M., Cameron‐Pimblett, A., McGlacken-Byrne, S. M., Buonocore, F., del Valle, I., Madhan, G. K., Brooks, T., Conway, G. S., & Achermann, J. C. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1227164 · Cited by 9 · see citing works

CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome

Pinnaro, C. T., Beck, C. B., Major, H. J., & Darbro, B. W. (2023) · Human Genetics · doi:10.1007/s00439-023-02538-0 · Cited by 8 · see citing works

Multicenter clinical experience with non-invasive cell-free DNA screening for monosomy X and related X-chromosome variants

Bedei, I., Gehrke, T., Gloning, K., Meyer‐Wittkopf, M., Willner, D., Krapp, M., Scharf, A., Degenhardt, J., Heling, K., Kozlowski, P., et al. (2023) · Prenatal Diagnosis · doi:10.1002/pd.6320 · Cited by 7 · see citing works

Image-Based Face Recognition Techniques Used in Disease Detection Approaches: A Survey

Salman, G. A., Kadhim, I. J., & Al-Badri, A. H. (2024) · Journal of Techniques · doi:10.51173/jt.v6i1.1966 · Cited by 8 · see citing works

The Effects of Growth Hormone Treatment Beyond Growth Promotion in Patients with Genetic Syndromes: A Systematic Review of the Literature

Kucharska, A., Witkowska–Sędek, E., Erazmus, M., Artemniak-Wojtowicz, D., Krajewska, M., & Pyrżak, B. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms251810169 · Cited by 9 · see citing works

Approach to the Patient With Turner Syndrome

Turner, H. E., Johannsen, E. B., Smyth, A., Orchard, E., & Gravholt, C. H. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaf517 · Cited by 11 · see citing works

Dermatological concerns for women and girls with turner syndrome

Rodriguez‐Buritica, D., Mones, M., Prakash, S. K., Rivera, M., Aldrich, M. B., Rogge, M. N., & Richardson, K. M. (2023) · Frontiers in Medicine · doi:10.3389/fmed.2023.1235187 · Cited by 6 · see citing works

Growth hormone therapy is associated with improved uterine dimensions in girls with Turner syndrome prior to oestrogen replacement

Mondal, S., Gargari, P., Nagendra, L., Mandal, S., Kumar, R. C., Shah, P., Haldar, M., Chowdhury, S., & Mukhopadhyay, S. (2023) · Clinical Endocrinology · doi:10.1111/cen.14957 · Cited by 7 · see citing works

Are Young People with Turner Syndrome Who Have Undergone Treatment with Growth and Sex Hormones at Higher Risk of Metabolic Syndrome and Its Complications?

Krzyścin, M., Sowińska­‍-Przepiera, E., Gruca-Stryjak, K., Soszka-Przepiera, E., Syrenicz, I., Przepiera, A., Bumbulienė, Ž., & Syrenicz, A. (2024) · Biomedicines · doi:10.3390/biomedicines12051034 · Cited by 7 · see citing works

The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development

Suntharalingham, J. P., del Valle, I., Buonocore, F., McGlacken-Byrne, S. M., Brooks, T., Ogunbiyi, O. K., Liptrot, D., Dunton, N. J., Madhan, G. K., Metcalfe, K., et al. (2025) · Communications Biology · doi:10.1038/s42003-025-07699-4 · Cited by 7 · see citing works

Isogenic hiPSC models of Turner syndrome development reveal shared roles of inactive X and Y in the human cranial neural crest network

Ahern, D. T., Bansal, P., Faustino, I. V., Chambers, O. M., Banda, E. C., Glatt-Deeley, H. R., Massey, R. E., Kondaveeti, Y., & Pinter, S. F. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2025.01.013 · Cited by 6 · see citing works

Non‐Invasive Prenatal Testing by Cell‐Free DNA ( cfNIPT ) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

Bedei, I. A., Bruder, J., Lund, I. C. B., Thomsen, S. H., Vogel, I., Maciel‐Guerra, A. T., Álvarez‐Nava, F., Crenshaw, M., Axt-Fliedner, R., Gravholt, C. H., et al. (2025) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32136 · Cited by 6 · see citing works

Deep learning-based chromosome segmentation and extraction: A comprehensive review of methodologies, challenges, and future directions

Song, G., Su, L., Wang, X., Huang, Z., Wang, S., Fu, Q., & Wang, P. (2025) · Neurocomputing · doi:10.1016/j.neucom.2025.131060 · Cited by 6 · see citing works

Ovarian tissue cryopreservation in the pediatric with rare diseases- experience from China’s first and the largest ovarian tissue cryobank

Ruan, X., Cheng, J., Du, J., Jin, F., Gu, M., Jü, R., Wu, Y., Li, L., Wang, Y., Jiang, L., et al. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1137940 · Cited by 6 · see citing works

Response of children with Turner syndrome with different types of karyotype abnormalities to growth hormone treatment

Choi, J. E., Park, M. J., Yu, J., & Kim, H. S. (2024) · Annals of Pediatric Endocrinology & Metabolism · doi:10.6065/apem.2346246.123 · Cited by 4 · see citing works

Symmetry of the face – Review of a complex matter

Kessler, P. A. W. H., Timmer, V. C. M. L., & Lie, S. A. N. (2024) · Journal of Oral and Maxillofacial Surgery Medicine and Pathology · doi:10.1016/j.ajoms.2024.11.010 · Cited by 5 · see citing works

Comprehensive Oral Diagnosis and Management for Women with Turner Syndrome

Tallón‐Walton, V., Molins, M. S., Hu, W., Martínez‐Abadías, N., Casado, A., & Manzanares‐Céspedes, M. C. (2024) · Diagnostics · doi:10.3390/diagnostics14070769 · Cited by 6 · see citing works

Predicted health care profile after transition to adult care in Turner syndrome children—experience of single center

Witkowska-Krawczak, E., Erazmus, M., Majcher, A., Pyrżak, B., & Kucharská, A. (2023) · Frontiers in Pediatrics · doi:10.3389/fped.2023.1173419 · Cited by 5 · see citing works

Elevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes

Just, J., Ridder, L. O. R., Johannsen, E. B., Jensen, J. M. B., Petersen, M. S., Christensen, H. V., Kjærgaard, K., Redder, J. D., Chang, S., Stochholm, K., et al. (2025) · npj Genomic Medicine · doi:10.1038/s41525-025-00467-7 · Cited by 5 · see citing works

Prevalence and management of hypertension in Turner syndrome: data from the International Turner Syndrome (I-TS) registry

Diddhenipothage, S. A. D. M., Beck, K. J., Amiyangoda, C. G. K., Bryce, J., Cima, L., Groote, K. D., Deyanova, Y., Globa, E., Herrmann, G., Juul, A., et al. (2025) · Endocrine Connections · doi:10.1530/ec-24-0477 · Cited by 5 · see citing works

Epidemiological analysis of turner syndrome in children aged 0–14 years: global, regional, and national perspectives (1990-2021)

Ding, F., Xu, J., Xiong, J., Li, Q., Cheng, Z., & Deng, L. (2025) · Frontiers in Endocrinology · doi:10.3389/fendo.2025.1552300 · Cited by 5 · see citing works

Evolution of Health Care in Turner Syndrome

Shankar, R. K., Gravholt, C. H., & Backeljauw, P. F. (2024) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32124 · Cited by 4 · see citing works

Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review

Dorf, I. L. H., Lou, S., & Skakkebaek, A. H. (2025) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32140 · Cited by 4 · see citing works

Screening for Turner Syndrome-Associated Hyperglycemia: Evaluating Hemoglobin A1c and Fasting Blood Glucose

Villasmil, M. G. P., Ryckman, K. K., Norris, A. W., & Pinnaro, C. T. (2023) · Hormone Research in Paediatrics · doi:10.1159/000534371 · Cited by 4 · see citing works

Ovarian Insufficiency: Clinical Spectrum and Management Challenges

Stuenkel, C. A. (2024) · Journal of Women s Health · doi:10.1089/jwh.2023.0942 · Cited by 4 · see citing works

Sex-Chromosome Abnormalities

Gravholt, C. H. (2024) · Elsevier eBooks · doi:10.1016/b978-0-12-815234-8.00002-1 · Cited by 4 · see citing works

Single-nucleus RNA-sequencing reveals novel potential mechanisms of ovarian insufficiency in 45,X Turner SyndromePreprint

McGlacken-Byrne, S. M., del Valle, I., Xenakis, T., Suntharalingham, J. P., Nel, L., Liptrot, D., Crespo, B., Ogunbiyi, O. K., Niola, P., Brooks, T., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.12.22.572342 · Cited by 4 · see citing works

The Use of Fluorescence In situ Hybridisation in the Diagnosis of Hidden Mosaicism in Egyptian Patients with Turner Syndrome

Ossama, H. M., Kholeif, S. F., & Elhady, G. M. (2023) · Journal of Human Reproductive Sciences · doi:10.4103/jhrs.jhrs_128_23 · Cited by 3 · see citing works

Cohort profile: Multicenter Networks for Ideal Outcomes of Rare Pediatric Endocrine and Metabolic Diseases in Korea (OUTSPREAD study)

Lee, Y. J., Cheon, C. K., Suh, J., Ahn, M. B., Ahn, M. B., Chang, S. H., Lee, J. E., Choi, J., Lim, H. H., Kim, J. H., et al. (2024) · Annals of Pediatric Endocrinology & Metabolism · doi:10.6065/apem.2448272.136 · Cited by 3 · see citing works

Cardiovascular outcomes and aortic growth in pregnant women with Turner syndrome: data from the European Society of Cardiology EURObservational Research Programme Registry of Pregnancy and Cardiac Disease (ROPAC) III

van der Zande, J. A., Grewal, J., Franx, A., Hlebowicz, J., Demulier, L., Konings, T. C., Kinsara, A. J., Mwita, J. C., Bal-Theoleyre, L., Mahmeed, W. A., et al. (2025) · European Journal of Preventive Cardiology · doi:10.1093/eurjpc/zwaf574 · Cited by 3 · see citing works

The importance of genetic counselling for turner syndrome transition

Villarreal, E. M. L., Prado, S. C., Schack, A. K., Sánchez, S. Á., Casado, M. A., Krych, Ł., & Garrido-Navas, M. C. (2024) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-024-02547-y · Cited by 3 · see citing works

Psychiatric disorders and comorbidity in women with Turner Syndrome: a retrospective national cohort study

Thunström, S., Wide, U., Landin‐Wilhelmsen, K., Berntorp, K. E., Bryman, I., Krantz, E., Wahlberg, J., Ekman, B., Isakson, M., Karlsson, A., et al. (2024) · Translational Psychiatry · doi:10.1038/s41398-024-02937-5 · Cited by 3 · see citing works

The Interplay between Muscular Grip Strength and Bone Mineral Density with Consideration of Metabolic and Endocrine Parameters in Individuals with Turner Syndrome

Krzyścin, M., Gruca-Stryjak, K., Soszka-Przepiera, E., Syrenicz, I., Przepiera, A., Cymbaluk‐Płoska, A., Bumbulienė, Ž., & Sowińska­‍-Przepiera, E. (2023) · Biomedicines · doi:10.3390/biomedicines11123125 · Cited by 3 · see citing works

Uncommon presentation: monozygotic twins with Turner syndrome

Rehman, B., Shariff, Y., Arif, M., & Memon, F. (2024) · BMJ Case Reports · doi:10.1136/bcr-2024-262946 · Cited by 3 · see citing works

Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome

Cicione, M. E., Wong, A. W., Aragon, E., Hague, C. D., Cirino, A. L., Scimone, E. R., Gochyyev, P., & Lin, A. E. (2025) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32128 · Cited by 3 · see citing works

Global burden and health inequalities of sex chromosomal DSDs (1990–2021): a GBD 2021 analysis

Su, X., Chen, F., Shi, Z., Tao, Y., Han, X., & Li, X. (2025) · International Urology and Nephrology · doi:10.1007/s11255-025-04677-x · Cited by 2 · see citing works

Turner syndrome: skin, liver, eyes, dental and ENT evaluation should be improved

Lam, J., Stoppa‐Vaucher, S., Αντωνίου, Μ., Bouthors, T., Arana, I. L. R., Sekarski, N., Rutz, T., Fries, S., Binz, P., Niel, F., et al. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1190670 · Cited by 3 · see citing works

Hypothyroidism and growth hormone deficiency as a complication of Turner Syndrome: Case Report

Aucay, H. A. C., Naula, M. P. N., Lata, G. E. P., Córdova, M., Guaman, M. R. C., Salazar, A. D. R. G., & Nugra, T. M. G. (2023) · Salud Ciencia y Tecnología · doi:10.56294/saludcyt2023438 · Cited by 2 · see citing works

Caracterización de una cohorte de pacientes pediátricas con Síndrome de Turner

Guzmán-Arias, E. C., Grajales-Restrepo, D. A., Zuluaga, N. A., Lopera-Cañaveral, M. V., & Niño-Serna, L. F. (2023) · Andes pediatrica · doi:10.32641/andespediatr.v94i5.4617 · Cited by 2 · see citing works

Approach to the Patient: Diagnosis and Treatment With Growth Hormone of Turner Syndrome and Its Variants

Zhou, Z., Qiang, J., Hao, N., Guo, X., Yao, F., Yang, H., Jiang, Y., Zhu, H., Chen, S., & Pan, H. (2024) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae648 · Cited by 2 · see citing works

Morbidity in Males With 45,X/46,XY Resembles the Morbidity Pattern in Turner Syndrome: A National Population-Based Study

Berglund, A., Gravholt, C. H., & Stochholm, K. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae912 · Cited by 2 · see citing works

Evaluating primary amenorrhea in the primary care setting

Hopkins, L. W., Breiten, K. H., Spero, S., & Moore, G. (2025) · The Nurse Practitioner · doi:10.1097/01.npr.0000000000000311 · Cited by 2 · see citing works

The Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta‐Analysis

Álvarez‐Nava, F., Crenshaw, M., Bedei, I. A., Soto, M., Maciel‐Guerra, A. T., & Skakkebaek, A. H. (2025) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32146 · Cited by 2 · see citing works

Turner Syndrome: An Update Review

Alam, J., & Shalini, D. (2024) · International Journal of Innovative Science and Research Technology (IJISRT) · doi:10.38124/ijisrt/ijisrt24may508 · Cited by 2 · see citing works

Lifelong cardiovascular care in Turner syndrome: two cases with review of literature

Moriguchi, S., Mukoyama, Y., Takizawa, F., Ogawa, A., Ogawa, T., Itô, J., Yanagawa, Y., Komiyama, C., Niitsu, R., & Isojima, T. (2024) · Endocrine Journal · doi:10.1507/endocrj.ej24-0038 · Cited by 1 · see citing works

Transition from pediatrics to adult health care in girls with turner syndrome

Sabbadin, C., Marin, L., Manso, J., Mozzato, C., Camozzi, V., Andrisani, A., Sacchetti, C., Mian, C., Scaroni, C. M., Guazzarotti, L., et al. (2024) · Expert Review of Endocrinology & Metabolism · doi:10.1080/17446651.2024.2347265 · Cited by 1 · see citing works

A Diagnosis of Turner Syndrome in the Eighth Decade of Life

Kaur, R., & O’Sullivan, S. (2024) · JCEM Case Reports · doi:10.1210/jcemcr/luae104 · Cited by 1 · see citing works

Pharmacogenomic studies of fertility outcomes in pediatric cancer survivors – A systematic review

Stenta, T., Assis, M., Ayers, K. L., Tucker, E. J., Halman, A., Gook, D. A., Sinclair, A. H., Elliott, D. A., Jayasinghe, Y., & Conyers, R. K. (2024) · Clinical and Translational Science · doi:10.1111/cts.13827 · Cited by 1 · see citing works

Medical Management of Children with Disorders of Sex Development: An Overview

Yadav, J., Nanda, P. M., & Jain, V. (2024) · Springer eBooks · doi:10.1007/978-981-97-1639-5_53 · Cited by 1 · see citing works

Current Practices in Fertility-Based Counseling Among Individuals With Turner Syndrome: A Retrospective Study

Beroukhim, G., Kastury, R. D., Davidson, K. A., Bergmann, J. M., & Vash‐Margita, A. (2025) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2025.02.002 · Cited by 2 · see citing works

Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution

Madison, A. M., Applegate, C. D., Stinnett, V., Miranda, D. M., Cross, C., Vaught, K. C. C., Zou, Y. S., & Murry, J. B. (2025) · Scientific Reports · doi:10.1038/s41598-025-89843-y · Cited by 1 · see citing works

Might Thyroid Function in Patients with Turner Syndrome Have a Significant Impact on Their Muscle Strength?

Krzyścin, M., Sowińska­‍-Przepiera, E., Bumbulienė, Ž., & Syrenicz, A. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26083679 · Cited by 1 · see citing works

Germ cell and other tumors in individuals with differences in sex development

Witchel, S. F., & Reyes‐Múgica, M. (2025) · CA A Cancer Journal for Clinicians · doi:10.3322/caac.70015 · Cited by 1 · see citing works

TIPE2: a novel regulatory factor for cardiovascular-related diseases

Li, R., & Guo, Z. (2025) · Journal of Molecular Medicine · doi:10.1007/s00109-025-02564-7 · Cited by 1 · see citing works

Epigenetic age acceleration in Turner and Klinefelter syndrome: Correlations with clinical aging markers

Johannsen, E. B., Just, J., Chang, S., Skakkebaek, A. H., & Gravholt, C. H. (2025) · Clinical Epigenetics · doi:10.1186/s13148-025-01963-4 · Cited by 1 · see citing works

Evaluating and predicting Klinefelter and Turner syndrome burden in China from 1990 to 2021: A study based on the global burden of disease database

Shen, Y., Song, C., Du, Y., Wang, L., Li, X., Shi, Y., Ye, D., Dong, S., & Liu, H. (2025) · Medicine · doi:10.1097/md.0000000000044519 · Cited by 1 · see citing works

Single-cell transcriptomics of organoids reveals transcriptional control of germline stem cell fate by an E2F1-TFAP2C-SOX17 positive-feedback loop in Turner syndrome

Shang, D., Wang, Y., Lan, T., Wang, X., Cheng, H., & Zhou, R. (2025) · Cell & Bioscience · doi:10.1186/s13578-025-01464-0 · Cited by 1 · see citing works

Incidence and multisystem preadolescent complications of Turner syndrome: a nationwide study

Cha, J. H., Kang, E., Na, J. Y., Ryu, S., Choi, Y., & Kim, J. H. (2025) · Pediatrics & Neonatology · doi:10.1016/j.pedneo.2025.06.009 · Cited by 1 · see citing works

An isotope dilution-liquid chromatography-tandem mass spectrometry-based candidate reference measurement procedure for the quantification of 5-alpha-dihydrotestosterone in human serum and plasma

Lewin, L. L., Stadlmeier, M., Singh, N., Bauland, F., Köppl, D., Gaudl, A., Geistanger, A., Ceglarek, U., Rauh, M., & Taibon, J. (2026) · Clinical Chemistry and Laboratory Medicine (CCLM) · doi:10.1515/cclm-2025-1155 · Cited by 1 · see citing works

Turner syndrome and acute type A aortic dissection: a national inpatient analysis of risk and outcomes

Datar, Y., Madhani, A., & Yin, K. (2026) · Cardiology in the Young · doi:10.1017/s1047951126111949 · Cited by 1 · see citing works

Identification of a Small Supernumerary Marker Chromosome in a Turner Syndrome Patient with Karyotype mos 46,X,+mar/45,X

González-Rodríguez, M. T. A., Brukman‐Jiménez, S. A., Cuero‐Quezada, I., Corona‐Rivera, J. R., Corona‐Rivera, A., Serafín‐Saucedo, G., Aguirre-Salas, L. M., & Bobadilla‐Morales, L. (2023) · Genes · doi:10.3390/genes14020253 · Cited by 1 · see citing works

Assessment of aortic dilatation in Chinese children and adolescents with Turner syndrome: a single center experience

Su, W., Sun, L., Li, Z., Liu, X., Zhang, L., Zhao, X., Fan, S.-M., Li, B., Xie, Y., Xiao, W., et al. (2024) · BMC Pediatrics · doi:10.1186/s12887-024-04783-2 · Cited by 1 · see citing works

Turner syndrome: fertility, familial clustering, and cancer risk

Allen‐Brady, K., Verrilli, L. E., Austin, B., Letourneau, J. M., Johnstone, E. B., & Welt, C. K. (2024) · Human Reproduction · doi:10.1093/humrep/deae266 · Cited by 1 · see citing works

Exploring the experiences of adult patients with turner syndrome at a multidisciplinary clinic

Shin, S., Liang, L., Korenvain, C., McCarthy, L. M., & Lega, I. C. (2025) · Maturitas · doi:10.1016/j.maturitas.2025.108214 · Cited by 1 · see citing works

Turner syndrome: the promise of fertility via stem cell technology

Szeliga, A., Malcher, A., Niwczyk, O., Olszewska, M., Kurpisz, M. K., Męczekalski, B., & Adashi, E. Y. (2025) · HORMONES · doi:10.1007/s42000-025-00647-1 · Cited by 1 · see citing works

Special Populations Including Transgender and Questioning Youth

Greydanus, D. E., & Patel, D. R. (2025) · Springer eBooks · doi:10.1007/978-3-031-85784-3_9 · Cited by 1 · see citing works

Visualizing Turner Syndrome

Stochholm, K., Rasmussen, A. B., & Skakkebaek, A. H. (2025) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32144 · Cited by 1 · see citing works

Etiologies and clinical characteristics of primary amenorrhea: A study from a quaternary care hospital in southern Thailand

Peeyananjarassri, K., Klangsin, S., Bhumsiriwilai, P., Wattanakumtornkul, S., & Chotipanvithayakul, R. (2025) · Journal of obstetrics and gynaecology research · doi:10.1111/jog.70009 · Cited by 1 · see citing works

Case 27-2023: A 53-Year-Old Woman with Celiac Disease and Upper Gastrointestinal Bleeding

Hashemi, N., Lopes, E. W., Dhami, R. S., Lin, A. E., & Moodley, J. (2023) · New England Journal of Medicine · doi:10.1056/nejmcpc2300903 · Cited by 1 · see citing works

Спорные вопросы хирургического лечения болезни Грейвса

Цуркан, А. Ю., Vanushko, V. E., & Beltsevich, D. G. (2009) · CyberLeninK (CyberLeninka)

Features of Turner syndrome in patients managed at the adult endocrinology clinic, Steve Biko Academic Hospital

Noeth, M., Kemp, T., & Botha, T. (2023) · Journal of Endocrinology Metabolism and Diabetes of South Africa · doi:10.1080/16089677.2023.2198349

Reduced effects of social feedback on learning in Turner syndrome

Avdic, H. B., Strannegård, C., Engberg, H., Willfors, C., Nordgren, I., Frisén, L., Hirschberg, A. L., Guath, M., Nordgren, A., & Kleberg, J. L. (2023) · Scientific Reports · doi:10.1038/s41598-023-42628-7

Identificação de variantes genéticas associadas com a perda gestacional

Vidal, S. V. P., Santos, T. T., Diniz, P. A., Silva, L. C., dos Santos, A. M. G., Souza, A. D. J., Ventura, S. D. S., Avelar, L. G. A., & Martins, A. A. S. (2023) · Brazilian Journal of Implantology and Health Sciences · doi:10.36557/2674-8169.2023v5n5p309-328

PAPVC with TS—Surgically managed with bilateral ectopic drainage ：a case report and literature reviewPreprint

Wang, Y., Zhuang, Z., Xun, Y., Zhao, Y., Shi, M., Mo, X., & Qi, J. (2023) · Research Square · doi:10.21203/rs.3.rs-3463536/v1

Progressive Oestrogen Deficiency in a Young Woman with 45X/46XX Mosaicism: A Case Report

(2023) · Medicine & health · doi:10.17576/mh.2023.1802.24

Immunological Underpinnings of Autoimmune Primary Ovarian Insufficiency

Brodeur, T. Y., & Esfandiari, N. (2024) · Current Obstetrics and Gynecology Reports · doi:10.1007/s13669-024-00376-z

New genomic understanding and challenges in clinical care of Turner syndrome

Gravholt, C. H., Balle, C. M., Johannsen, E. B., Valsted, L. B., Hartogsohn, E. A. R., Bedei, I. A., Just, J., Backeljauw, P. F., & Stochholm, K. (2026) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(26)00192-0

Turner syndrome: mechanisms and management

Gravholt, C. H., Viuff, M. H., Brun, S., Stochholm, K., & Andersen, N. H. (2019) · Nature Reviews Endocrinology · doi:10.1038/s41574-019-0224-4 · Cited by 356 · see citing works

Turner Syndrome

Clemente, E. G., Penukonda, S. K., Doan, T., Sullivan, B. A., & Kanungo, S. (2022) · Endocrines · doi:10.3390/endocrines3020022 · Cited by 9 · see citing works

Turner syndrome: narrative review of genetics and clinical aspects of management

Fudge, E. B. (2023) · Pediatric Medicine · doi:10.21037/pm-22-9 · Cited by 7 · see citing works

Turner's syndrome

Janson, P.-O., Barrenäs, M., Kriström, B., Hanson, C., Möller, A. R., Landin‐Wllhelmsen, K., & Albertsson-Wikland, K. G. (2004) · Cambridge University Press eBooks · doi:10.1017/cbo9780511527036.020 · Cited by 1 · see citing works