Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner syndrome meeting
Open accessAbstract
Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. Prior to this meeting, five groups each addressed important areas in TS care: 1) diagnostic and genetic issues, 2) growth and development during childhood and adolescence, 3) congenital and acquired cardiovascular disease, 4) transition and adult care, and 5) other comorbidities and neurocognitive issues. These groups produced proposals for the present guidelines. Additionally, four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with The European Society for Pediatric Endocrinology, The Endocrine Society, European Society of Human Reproduction and Embryology, The American Heart Association, The Society for Endocrinology, and the European Society of Cardiology. The guideline has been formally endorsed by the European Society for Endocrinology, the Pediatric Endocrine Society, the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology and the Endocrine Society. Advocacy groups appointed representatives who participated in pre-meeting discussions and in the consensus meeting.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Numerous important advances in TS care have been noted since the publication of previous guidelines.
“Previous guidelines have already addressed this, but numerous important advances have been noted since their publication.1-3”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [1]
Comparative studies of karyotype-phenotype in TS are challenged by relatively small cohorts, differences in patient ages, variability in the definition of the clinical features, and general uncertainty regarding the extent of mosaicism in different tissues.
“Comparative studies of karyotype-phenotype in TS are challenged by relatively small cohorts, differences in patient ages, variability in the definition of the clinical features, and general uncertainty regarding the extent of mosaicism in different tissues.1”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [1]
In 10%-12% of individuals with TS, a normal or structurally abnormal Y chromosome can be detected by karyotyping, FISH using Y-chromosome probes, PCR with Y-specific probes, or array-comparative genomic hybridization (array-CGH).
“In 10%-12% of individuals with TS, a normal or structurally abnormal Y chromosome can be detected by karyotyping, FISH using Y-chromosome probes, PCR with Y-specific probes, or array-comparative genomic hybridization (array-CGH).”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [1]
PCR is more sensitive in detecting Y material than FISH.
“PCR is more sensitive in detecting Y material than FISH”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [1]
Studies differ on whether oral E2 vs TD E2 leads to increased total cholesterol and decreased HDL.
“Studies differ on whether oral E2 vs. TD E2 leads to increased total cholesterol and decreased HDL”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [1]
Dose and route of E2 do not affect glucose and insulin concentration and tolerance.
“Dose and route of E2 do not affect glucose and insulin concentration and tolerance”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [1]
Inadequate weight gain is common, with estimates of up to half of all infants with TS experiencing failure to thrive.
“Inadequate weight gain is common, with estimates of up to half of all infants with TS experiencing failure to thrive.1”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [1]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Emerging adulthood: A theory of development from the late teens through the twenties.
Arnett, J. J. (2000) · American Psychologist · doi:10.1037/0003-066x.55.5.469 · Cited by 16,843 · see citing works
Chobanian, A. V., Bakris, G. L., Black, H. R., Cushman, W. C., Green, L. A., Izzo, J. L., Jones, D. W., Materson, B. J., Oparil, S., Wright, J. T., et al. (2003) · Hypertension · doi:10.1161/01.hyp.0000107251.49515.c2 · Cited by 13,271 · see citing works
GRADE guidelines: 3. Rating the quality of evidence
Balshem, H., Helfand, M., Schünemann, H. J., Oxman, A. D., Kunz, R., Brozek, J., Vist, G. E., Falck-Ytter, Y., Meerpohl, J., & Norris, S. (2011) · Journal of Clinical Epidemiology · doi:10.1016/j.jclinepi.2010.07.015 · Cited by 8,285 · see citing works
National High Blood Pressure Education Program Working Group on High Blood Pressure in Children and Adolescents (2004) · PEDIATRICS · doi:10.1542/peds.114.2.s2.555 · Cited by 6,895 · see citing works
Erbel (2014) · doi:10.1093/eurheartj/ehu281 · Cited by 4,451 · see citing works
Steegers, E. A., von Dadelszen, P., Duvekot, J. J., & Pijnenborg, R. (2010) · The Lancet · doi:10.1016/s0140-6736(10)60279-6 · Cited by 2,850 · see citing works
Husby, S., Koletzko, S., Korponay‐Szabó, I. R., Mearin, M. L., Phillips, A., Shamir, R., Troncone, R., Giersiepen, K., Branski, D., Catassi, C., et al. (2012) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1097/mpg.0b013e31821a23d0 · Cited by 2,683 · see citing works
Adolescence: A foundation for future health
Sawyer, S. M., Afifi, R. A., Bearinger, L. H., Blakemore, S.-J., Dick, B., Ezeh, A. C., & Patton, G. C. (2012) · The Lancet · doi:10.1016/s0140-6736(12)60072-5 · Cited by 2,635 · see citing works
ESC Guidelines on the management of cardiovascular diseases during pregnancy
Endorsed by the European Society of Gynecology (ESG), T. A. F. E. P. C. (., Authors/Task Force Members, Regitz-Zagrosek, V., Blomstrom Lundqvist, C., Borghi, C., Cifkova, R., Ferreira, R., Foidart, J.-M., Gibbs, J. S. R., Gohlke-Baerwolf, C., et al. (2011) · European Heart Journal · doi:10.1093/eurheartj/ehr218 · Cited by 1,924 · see citing works
ESHRE Guideline: management of women with premature ovarian insufficiency
The ESHRE Guideline Group on POI, Webber, L. J., Davies, M. C., Anderson, R. A., Bartlett, J., Braat, D. D. M., Cartwright, B., Cífková, R., Keizer‐Schrama, S. D. M., Hogervorst, E., et al. (2016) · Human Reproduction · doi:10.1093/humrep/dew027 · Cited by 1,578 · see citing works
Lopez, L., Colan, S. D., Frommelt, P. C., Ensing, G. J., Kendall, K., Younoszai, A. K., Lai, W. W., & Geva, T. (2010) · Journal of the American Society of Echocardiography · doi:10.1016/j.echo.2010.03.019 · Cited by 1,557 · see citing works
Transition from child-centered to adult health-care systems for adolescents with chronic conditions
Blum, R. W., Garell, D. C., Hodgman, C. H., Jorissen, T. W., Okinow, N., Orr, D. P., & Slap, G. B. (1993) · Journal of Adolescent Health · doi:10.1016/1054-139x(93)90143-d · Cited by 1,538 · see citing works
Andrews, J., Guyatt, G., Oxman, A. D., Alderson, P., Dahm, P., Falck-Ytter, Y., Nasser, M., Meerpohl, J., Post, P. N., Kunz, R., et al. (2013) · Journal of Clinical Epidemiology · doi:10.1016/j.jclinepi.2012.03.013 · Cited by 1,416 · see citing works
Screening for Depression in Adults: US Preventive Services Task Force Recommendation Statement
Siu, A. L., and the US Preventive Services Task Force (USPSTF), Bibbins-Domingo, K., Grossman, D. C., Baumann, L. C., Davidson, K. W., Ebell, M., García, F. A. R., Gillman, M., Herzstein, J., et al. (2016) · JAMA · doi:10.1001/jama.2015.18392 · Cited by 1,407 · see citing works
Randomized controlled trial testing the effects of weight loss on nonalcoholic steatohepatitis
Promrat, K., Kleiner, D. E., Niemeier, H. M., Jackvony, E., Kearns, M., Wands, J. R., Fava, J. L., & Wing, R. R. (2010) · Hepatology · doi:10.1002/hep.23276 · Cited by 1,330 · 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
Supporting the health care transition from adolescence to adulthood in the medical home
Cooley, W. C., Sagerman, P. J., & American Academy of Pediatrics, A. A. O. F. P. (2011) · PEDIATRICS · doi:10.1542/peds.2011-0969 · Cited by 1,119 · see citing works
AHA/ACCF/HRS Recommendations for the Standardization and Interpretation of the Electrocardiogram
Rautaharju, P. M., Surawicz, B., & Gettes, L. S. (2009) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2008.12.014 · Cited by 1,019 · see citing works
Care of girls and women with Turner syndrome: a guideline of the Turner syndrome study group
Bondy, C. A. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-1374 · Cited by 1,005 · see citing works
2016 IMS Recommendations on women’s midlife health and menopause hormone therapy
Baber, R., Panay, N., & Fenton, A. J. (2016) · Climacteric · doi:10.3109/13697137.2015.1129166 · Cited by 968 · see citing works
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
Sybert, V. P., & McCauley, E. (2004) · New England Journal of Medicine · doi:10.1056/nejmra030360 · Cited by 918 · 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
Rabin, L., Barr, W., & Burton, L. A. (2004) · Archives of Clinical Neuropsychology · doi:10.1016/j.acn.2004.02.005 · Cited by 829 · see citing works
Gil, M. M., Quezada, M. S., Revello, R., Akolekar, R., & Nicolaides, K. H. (2015) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.14791 · Cited by 806 · 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
Achenbach, T. M., Becker, A., Döpfner, M., Heiervang, E. R., Roessner, V., Steinhausen, H., & Rothenberger, A. (2008) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2007.01867.x · Cited by 681 · 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
Adolescents with a chronic condition: challenges living, challenges treating
Sawyer, S. M., Drew, S., Yeo, M. S., & Britto, M. T. (2007) · The Lancet · doi:10.1016/s0140-6736(07)60370-5 · Cited by 656 · 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
Self-citationEndometrial cancer and hormone-replacement therapy in the Million Women Study
Beral, V., Bull, D., & REEVES, G. K. (2005) · The Lancet · doi:10.1016/s0140-6736(05)66455-0 · Cited by 613 · see citing works
Warren, S. F., Fey, M. E., & Yoder, P. J. (2007) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20139 · Cited by 603 · see citing works
Sawicki, G. S., Lukens-Bull, K., Yin, X., Demars, N., Huang, I.-C., Livingood, W., Reiss, J., & Wood, D. (2011) · Journal of Pediatric Psychology · doi:10.1093/jpepsy/jsp128 · Cited by 592 · see citing works
Novel Measurement of Relative Aortic Size Predicts Rupture of Thoracic Aortic Aneurysms
Davies, R. R., Gallo, A. E., Coady, M. A., Tellides, G., Botta, D. M., Burke, B. J., Coe, M. P., Kopf, G. S., & Elefteriades, J. A. (2005) · The Annals of Thoracic Surgery · doi:10.1016/j.athoracsur.2005.06.026 · Cited by 584 · see citing works
Canonico, M., Plu-Bureau, G., Lowe, G. D. O., & Scarabin, P.-Y. (2008) · BMJ · doi:10.1136/bmj.39555.441944.be · Cited by 569 · see citing works
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
Self-citationGender-Related Differences in Acute Aortic Dissection
Nienaber, C. A., Fattori, R., Mehta, R. H., Richartz, B. M., Evangelista, A., Petzsch, M., Cooper, J. V., Januzzi, J. L., İnce, H., Sechtem, U. P., et al. (2004) · Circulation · doi:10.1161/01.cir.0000130644.78677.2c · Cited by 535 · see citing works
WEISSBERGER, A. J., HO, K. K. Y., & LAZARUS, L. (1991) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-72-2-374 · Cited by 514 · see citing works
Laugeson, E. A., Frankel, F., Gantman, A., Dillon, A. R., & Mogil, C. (2012) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-011-1339-1 · Cited by 513 · see citing works
Januzzi, J. L., Isselbacher, E. M., Fattori, R., Cooper, J. V., Smith, D. E., Fang, J., Eagle, K. A., Mehta, R. H., Nienaber, C. A., & Pape, L. A. (2004) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2003.08.054 · Cited by 511 · see citing works
Epidemiology and the medical causes of miscarriage
Regan, L., & Rai, R. (2000) · Best Practice & Research Clinical Obstetrics & Gynaecology · doi:10.1053/beog.2000.0123 · Cited by 509 · see citing works
Hook, E. B. (1977) · PubMed · Cited by 502 · see citing works
Toner, J. P., Philput, C. B., Jones, G. S., & Muasher, S. J. (1991) · Fertility and Sterility · doi:10.1016/s0015-0282(16)54249-6 · Cited by 495 · see citing works
Bollerslev, J., Rejnmark, L., Marcocci, C., Shoback, D., Sitges‐Serra, A., Biesen, W. V., & Dekkers, O. M. (2015) · European Journal of Endocrinology · doi:10.1530/eje-15-0628 · Cited by 461 · see citing works
Self-citationRabin, L. A., Paolillo, E., & Barr, W. B. (2016) · Archives of Clinical Neuropsychology · doi:10.1093/arclin/acw007 · Cited by 448 · see citing works
Preimplantation genetic screening: a systematic review and meta-analysis of RCTs
Mastenbroek, S., Twisk, M., van der Veen, F., & Repping, S. (2011) · Human Reproduction Update · doi:10.1093/humupd/dmr003 · Cited by 432 · see citing works
The North American Menopause Society Recommendations for Clinical Care of Midlife Women
Shifren, J. L., & Gass, M. L. S. (2014) · Menopause The Journal of The North American Menopause Society · doi:10.1097/gme.0000000000000319 · Cited by 412 · see citing works
Aging and Hearing Health: The Life-course Approach
Davis, A. C., McMahon, C. M., Pichora-Fuller, K. M., Russ, S. A., Lin, F. R., Olusanya, B. O., Chadha, S. K., & Tremblay, K. L. (2016) · The Gerontologist · doi:10.1093/geront/gnw033 · Cited by 410 · see citing works
Hook, E., & Warburton, D. (1983) · Human Genetics · doi:10.1007/bf00289473 · Cited by 406 · see citing works
Schwartz, L. A., Tuchman, L. K., Hobbie, W. L., & Ginsberg, J. P. (2011) · Child Care Health and Development · doi:10.1111/j.1365-2214.2011.01282.x · Cited by 402 · see citing works
Daley, D., van der Oord, S., Ferrin, M., Danckaerts, M., Doepfner, M., Cortese, S., & Sonuga-Barke, E. J. S. (2014) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2014.05.013 · Cited by 401 · 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
Self-citationChervenak, F. A., Isaacson, G. C., Blakemore, K. J., Breg, W. R., Hobbins, J. C., Berkowitz, R. L., Tortora, M., Mayden, K. L., & Mahoney, M. J. (1983) · New England Journal of Medicine · doi:10.1056/nejm198310063091403 · Cited by 391 · see citing works
Spontaneous Pubertal Development in Turner's Syndrome
Pasquino, A. M., Passeri, F., Pucarelli, I., Segni, M., & Municchi, G. (1997) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.82.6.3970 · Cited by 385 · see citing works
Transdermal and oral hormone replacement therapy and the risk of stroke: a nested case-control study
Renoux, C., Dell’Aniello, S., Garbe, E., & Suissa, S. (2010) · BMJ · doi:10.1136/bmj.c2519 · Cited by 383 · see citing works
Recommendations for the Diagnosis and Management of Turner Syndrome1
Saenger, P. H., Wikland, K. A., Conway, G. S., Davenport, M., Gravholt, C. H., Hintz, R. L., Hovatta, O., Hultcrantz, M., Landin‐Wilhelmsen, K., Lin, A. E., et al. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.7.7683 · Cited by 368 · see citing works
Self-citationAortic 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
Histopathologic findings in human aortic media associated with pregnancy.
Manalo-Estrella, P., & Barker, A. (1967) · PubMed · Cited by 348 · see citing works
on behalf of the European Society of Human Genetics (ESHG) and the American Society of Human Genetics (ASHG), Dondorp, W., de Wert, G. M. W. R., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., Chitty, L. S., Fellmann, F., Forzano, F., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.57 · Cited by 347 · see citing works
Cardiovascular Malformations and Complications in Turner Syndrome
Sybert, V. P. (1998) · PEDIATRICS · doi:10.1542/peds.101.1.e11 · Cited by 326 · see citing works
Hiratzka, L. F., Bakris, G. L., Beckman, J. A., Bersin, R. M., Carr, V. F., Casey, D. E., Eagle, K. A., Hermann, L. K., Isselbacher, E. M., Kazerooni, E. A., et al. (2010) · Catheterization and Cardiovascular Interventions · doi:10.1002/ccd.22537 · Cited by 325 · see citing works
Cutfield, W. S., Wilton, P., Bennmarker, H., Albertsson-Wikland, K., Chatelain, P., Ranke, M. B., & Price, D. A. (2000) · The Lancet · doi:10.1016/s0140-6736(99)04055-6 · Cited by 318 · see citing works
Major Vascular Anomalies in Turner Syndrome: Prevalence and Magnetic Resonance Angiographic Features
Ho, V. B., Bakalov, V. K., Cooley, M., Van, P. L., Hood, M. N., Burklow, T. R., & Bondy, C. A. (2004) · Circulation · doi:10.1161/01.cir.0000142290.35842.b0 · Cited by 316 · see citing works
Long-term safety of recombinant human growth hormone in children
Bell, J., Parker, K. L., Swinford, R. D., Hoffman, A. R., Maneatis, T., & Lippe, B. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-0178 · Cited by 301 · see citing works
Recommendations for the Diagnosis and Management of Turner Syndrome
Saenger, P. H. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.86.7.3061 · Cited by 301 · see citing works
Coarctation of the aorta: outcome of pregnancy
Beauchesne, L., Connolly, H. M., Ammash, N. M., & Warnes, C. A. (2001) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(01)01617-5 · Cited by 285 · 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
Growth hormone therapy of Turner's syndrome: beneficial effect on adult height
Rosenfeld, R. G., Attie, K. M., Frane, J., Brasel, A., Burstein, S., Cara, J. F., Chernausek, S., Gotlin, R. W., Kuntze, J., Lippe, B. M., et al. (1998) · The Journal of Pediatrics · doi:10.1016/s0022-3476(98)70452-4 · Cited by 265 · see citing works
Russell, L. M., Strike, P., Browne, C. E., & Jacobs, P. A. (2007) · Cytogenetic and Genome Research · doi:10.1159/000098184 · Cited by 264 · 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
Self-citationCongenital heart disease in patients with Turner’s syndrome
Mazzanti, L., & CACCIARI, E. (1998) · The Journal of Pediatrics · doi:10.1016/s0022-3476(98)70119-2 · Cited by 261 · see citing works
Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome
Gotzsche, C. O., Krag-Olsen, B., Nielsen, J., Sorensen, K. E., & Kristensen, B. O. (1994) · Archives of Disease in Childhood · doi:10.1136/adc.71.5.433 · Cited by 260 · see citing works
Rappold, G., Blum, W. F., Shavrikova, E. P., Crowe, B. J., Roeth, R., Quigley, C. A., ROSS, J. L., & Niesler, B. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2006.046581 · Cited by 257 · see citing works
Self-citationGravholt, C. H., Fedder, J., Næraa, R. W., & Müller, J. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.9.6800 · Cited by 256 · see citing works
Self-citation(2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-2187 · Cited by 256 · see citing works
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
Approach to the Patient with Turner Syndrome
Davenport, M. L. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-0926 · Cited by 252 · see citing works
Oelkers, W., Foidart, J. M., Dombrovicz, N., Welter, A., & Heithecker, R. (1995) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.80.6.7775629 · Cited by 247 · see citing works
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
Self-citationÜber typische Kombinationsbilder multipler Abartungen
Ullrich, O. (1930) · European Journal of Pediatrics · doi:10.1007/bf02248090 · Cited by 240 · see citing works
Hook, E. B., & Warburton, D. (2014) · Human Genetics · doi:10.1007/s00439-014-1420-x · Cited by 236 · see citing works
Pregnancy in patients with Turner's syndrome: six new cases and review of literature
Tarani, L., Lampariello, S., Raguso, G., Colloridi, F., Pucarelli, I., Pasquino, A. M., & Bruni, L. A. (1998) · Gynecological Endocrinology · doi:10.3109/09513599809024955 · Cited by 228 · see citing works
Phenotypes Associated with SHOX Deficiency
ROSS, J. L., Scott, C. I., Marttila, P., Kowal, K., Nass, A., Papenhausen, P. R., Abboudi, J., Osterman, L. A., Kushner, H., Carter, P., et al. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.12.8125 · Cited by 221 · see citing works
Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome.
Tsuchiya, K. D., Pera, R. A. R., Page, D. C., & Distèche, C. M. (1995) · PubMed Central · 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
Self-citationGrowth 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
Self-citationGuideline panels should not GRADE good practice statements
Guyatt, G. H., Schünemann, H. J., Djulbegović, B., & Akl, E. A. (2014) · Journal of Clinical Epidemiology · doi:10.1016/j.jclinepi.2014.12.011 · Cited by 210 · see citing works
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
Self-citationWeill, A., Dalichampt, M., RAGUIDEAU, F., Ricordeau, P., Blotière, P., Rudant, J., Alla, F., & Zureik, M. (2016) · BMJ · doi:10.1136/bmj.i2002 · Cited by 209 · see citing works
Sweetland, S., Beral, V., Balkwill, A., Liu, B. C., Benson, V. S., Canonico, M., Green, J., & REEVES, G. K. (2012) · Journal of Thrombosis and Haemostasis · doi:10.1111/j.1538-7836.2012.04919.x · Cited by 208 · see citing works
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
Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature
Carlson, M., & Silberbach, M. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2007.052019 · Cited by 206 · see citing works
Self-citationKarnis, M. F., Zimon, A. E., Lalwani, S. I., Timmreck, L. S., Klipstein, S., & Reindollar, R. H. (2003) · Fertility and Sterility · doi:10.1016/s0015-0282(03)00974-9 · Cited by 206 · see citing works
A Preliminary Study of the Effect of Estrogen Dose on Growth in Turner's Syndrome
ROSS, J. L., Fg, C., SKERDA, M. C., Im, V., Loriaux, D. L., & Gb, C. (1983) · New England Journal of Medicine · doi:10.1056/nejm198311033091806 · Cited by 205 · see citing works
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
Self-citationFertility and pregnancy outcome in Danish women with Turner syndrome
Birkebaek, N., Crüger, D., Hansen, J., Nielsen, J., & Bruun‐Petersen, G. (2002) · Clinical Genetics · doi:10.1034/j.1399-0004.2002.610107.x · Cited by 204 · 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
Quality of Life in Children with Hearing Impairment
Roland, L. T., Fischer, C., Tran, K., Rachakonda, T. D., Kallogjeri, D., & Lieu, J. E. C. (2016) · Otolaryngology · doi:10.1177/0194599816640485 · Cited by 200 · see citing works
Heilbronner, R. L., Sweet, J. J., Attix, D. K., Krull, K. R., Henry, G. K., & Hart, R. P. (2010) · The Clinical Neuropsychologist · doi:10.1080/13854046.2010.526785 · Cited by 199 · see citing works
Johansen, M. L., Hagen, C. P., Meyts, E. R., Kjærgaard, S., Petersen, B. L., Skakkebæk, N. E., Main, K. M., & Juul, A. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-1388 · Cited by 193 · 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
Self-citationEvidence for a Turner Syndrome Locus or Loci at Xp11.2-p22.1
Zinn, A. R., Tonk, V. S., Chen, Z., Flejter, W. L., Gardner, H. A., Guerra, R., Kushner, H., Schwartz, S., Sybert, V. P., Dyke, D. L. V., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/302152 · Cited by 186 · see citing works
The XO syndrome: A study of the differentiated phenotype in 25 patients
Lemli, L., & Smith, D. W. (1963) · The Journal of Pediatrics · doi:10.1016/s0022-3476(63)80368-6 · Cited by 184 · see citing works
Turner's syndrome and pregnancies after oocyte donation
Foudila, T., Söderström‐Anttila, V., & Hovatta, O. H. (1999) · Human Reproduction · doi:10.1093/humrep/14.2.532 · Cited by 184 · see citing works
Self-citationOral vs Transdermal Estrogen Therapy and Vascular Events: A Systematic Review and Meta-Analysis
Mohammed, K., Abu Dabrh, A. M., Benkhadra, K., Al Nofal, A., Carranza Leon, B. G., Prokop, L. J., Montori, V. M., Faubion, S. S., & Murad, M. H. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-2237 · Cited by 183 · see citing works
Storgaard, M., Loft, A., Bergh, C., Wennerholm, U., Söderström‐Anttila, V., Romundstad, L., Aittomäki, K., Oldereid, N. B., Forman, J. L., & Pinborg, A. B. (2016) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/1471-0528.14257 · Cited by 183 · see citing works
Self-citationCarlson, M., Airhart, N., Lopez, L., & Silberbach, M. (2012) · Circulation · doi:10.1161/circulationaha.111.088633 · Cited by 181 · see citing works
Self-citationHeld, 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
Delayed diagnoses of Turner's syndrome: proposed guidelines for change
Sävendahl, L., & Davenport, M. L. (2000) · The Journal of Pediatrics · doi:10.1067/mpd.2000.107390 · Cited by 180 · see citing works
Laboratory guideline for Turner syndrome
Wolff, D. J., Dyke, D. L. V., & Powell, C. M. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181c684b2 · Cited by 178 · 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
Hypertension is a major risk factor for aortic root dilatation in women with Turner's syndrome
Elsheikh, M., Casadei, B., Conway, G. S., & Wass, J. A. H. (2001) · Clinical Endocrinology · doi:10.1046/j.1365-2265.2001.01154.x · Cited by 173 · see citing works
Self-citationThe Psychoeducational Characteristics of Children with Turner Syndrome
ROVET, J. F. (1993) · Journal of Learning Disabilities · doi:10.1177/002221949302600506 · Cited by 172 · 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
Current Status of Cognitive Behavioral Therapy for Adult Attention-Deficit Hyperactivity Disorder
Knouse, L. E., & Safren, S. A. (2010) · Psychiatric Clinics of North America · doi:10.1016/j.psc.2010.04.001 · Cited by 170 · 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
Self-citationHypothyroidism 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
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
Shyness, social anxiety, and impaired self-esteem in Turner syndrome and premature ovarian failure
Schmidt, P. J., Cardoso, G. M. P., Ross, J. L., Haq, N., Rubinow, D. R., & Bondy, C. A. (2006) · JAMA · doi:10.1001/jama.295.12.1374 · Cited by 163 · see citing works
Transition to young adulthood in Ullrich-Turner syndrome: Neurodevelopmental changes
Romans, S. M., Stefanatos, G. A., Roeltgen, D. P., Kushner, H., & ROSS, J. L. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980901)79:2 · 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
Turner syndrome: evaluation of prenatal diagnosis in 19 European registries
Baena, N., De Vigan, C., Cariati, E., Clementi, M., Stoll, C., Caballín, M. R., Guitart, M., & The Euroscan working group (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30092 · Cited by 160 · see citing works
Quigley, C. A., Crowe, B. J., Anglin, D. G., & Chipman, J. J. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.5.8477 · Cited by 159 · see citing works
Self-citationSas, 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
Self-citationTreatment of adults with attention-deficit/hyperactivity disorder
Hechtman, L. (2008) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s6985 · Cited by 157 · see citing works
Masoudian, P., Nasr, A., de Nanassy, J., Fung-Kee-Fung, K., Bainbridge, S. A., & El Demellawy, D. (2016) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2015.11.020 · Cited by 157 · 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
Psychosocial and sexual functioning in women with Turner syndrome
Pavlidis, K., McCauley, E., & Sybert, V. P. (1995) · Clinical Genetics · doi:10.1111/j.1399-0004.1995.tb03929.x · Cited by 154 · see citing works
Hadnott, T. N., Gould, H. N., Gharib, A. M., & Bondy, C. A. (2011) · Fertility and Sterility · doi:10.1016/j.fertnstert.2011.03.085 · Cited by 153 · see citing works
Clinical and immunologic aspects of egg donation pregnancies: a systematic review
van der Hoorn, M., Lashley, E. E. L. O., Bianchi, D. W., Claas, F. H. J., Schonkeren, C. M. C., & Scherjon, S. A. (2010) · Human Reproduction Update · doi:10.1093/humupd/dmq017 · Cited by 153 · see citing works
Cytogenetic and molecular analysis of sex-chromosome monosomy.
Hassold, T. J., Benham, F., & Leppert, M. (1988) · PubMed · Cited by 152 · see citing works
Carel, J.-C., Elie, C., Ecosse, E., Tauber, M., Léger, J., Cabrol, S., Nicolino, M., Brauner, R., Chaussain, J.-L., & Coste, J. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-2652 · Cited by 152 · see citing works
Ostberg, J. E., Donald, A. E., Halcox, J., Storry, C., McCarthy, C., & Conway, G. S. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-0677 · Cited by 149 · see citing works
Self-citationRanke, M. B., Lindberg, A., Chatelain, P., Wilton, P., Cutfield, W. S., Albertsson-Wikland, K. G., & Price, D. A. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.11.6976 · Cited by 148 · see citing works
Davenport, M. L., Crowe, B. J., Travers, S. H., Rubin, K., Ross, J. L., Fechner, P. Y., Gunther, D. F., Liu, C., Geffner, M. E., Thrailkill, K., et al. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-2874 · Cited by 147 · see citing works
Self-citationAdult Height and Pubertal Growth in Turner Syndrome after Treatment with Recombinant Growth Hormone
Soriano‐Guillén, L., Coste, J., Écosse, E., Léger, J., Tauber, M., Cabrol, S., Nicolino, M. P., Brauner, R., Chaussain, J., & Carel, J. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-0470 · Cited by 147 · see citing works
Ostberg, J. E., Brookes, J. A. S., McCarthy, C., Halcox, J., & Conway, G. S. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-1090 · Cited by 146 · see citing works
Self-citationImproved final height in girls with Turner's syndrome treated with growth hormone and oxandrolone
NILSSON, K. O., Albertsson-Wikland, K. G., Alm, J., Aronson, S., Gustafsson, J.-Å., Hagenäs, L., Häger, A., Ivarsson, S. A., KARLBERG, J. P. E., Kriström, B., et al. (1996) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.81.2.8636281 · Cited by 146 · 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
Feasibility of fertility preservation in young females with Turner syndrome
Lau, N. M., Huang, J. Y. J., MacDonald, S., Elizur, S. E., Gidoni, Y., Holzer, H. E. G., Chian, R., Tulandi, T., & Tan, S. L. (2009) · Reproductive BioMedicine Online · doi:10.1016/s1472-6483(10)60268-4 · Cited by 142 · see citing works
Psychosocial Development in Adolescents with Turner Syndrome
McCauley, E., Feuillan, P., Kushner, H., & ROSS, J. L. (2001) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/00004703-200112000-00003 · Cited by 142 · see citing works
Kemper, A. R., Green, N. S., Calonge, N., Lam, W. K. K., Comeau, A. M., Goldenberg, A. J., Ojodu, J., Prosser, L. A., Tanksley, S., & Bocchini Jr, J. A. (2014) · Genetics in Medicine · doi:10.1038/gim.2013.98 · Cited by 142 · see citing works
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
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
Malignant potential of the dysgenetic gonad. Part 1.
Hf, S. (1974) · PubMed · Cited by 139 · see citing works
Estrogen receptors in the normal adult and developing human inner ear and in Turner’s syndrome
Stenberg, A. E., Wang, H., Fish, J., Schrott‐Fischer, A., Sahlin, L., & Hultcrantz, M. (2001) · Hearing Research · doi:10.1016/s0378-5955(01)00280-5 · Cited by 138 · see citing works
Learning Disabilities in Children with Sex Chromosome Anomalies
Pennington, B. F., Bender, B. G., Puck, M. H., Salbenblatt, J. A., & Robinson, A. (1982) · Child Development · doi:10.2307/1129006 · Cited by 138 · see citing works
Cordina‐Duverger, E., Truong, T., Anger, A., Sanchez, M., Arveux, P., Kerbrat, P., & Guénel, P. (2013) · PLoS ONE · doi:10.1371/journal.pone.0078016 · 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
Increased Prevalence of ADHD in Turner Syndrome with No Evidence of Imprinting Effects
Russell, H. F., WALLIS, D. E., Mazzocco, M. M. M., Moshang, T., Zackai, E. H., Zinn, A. R., ROSS, J. L., & Muenke, M. (2006) · Journal of Pediatric Psychology · doi:10.1093/jpepsy/jsj106 · Cited by 133 · see citing works
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
Estrogen influences osmotic secretion of AVP and body water balance in postmenopausal women
Stachenfeld, N. S., Dipietro, L., Palter, S. F., & Nadel, E. R. (1998) · American Journal of Physiology-Regulatory, Integrative and Comparative Physiology · doi:10.1152/ajpregu.1998.274.1.r187 · Cited by 132 · see citing works
Cognitive profile of Turner syndrome
Hong, D. S., Kent, J. S., & Kesler, S. R. (2009) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.79 · Cited by 131 · see citing works
Monitoring and Assessment of Neuropsychological Outcomes as a Standard of Care in Pediatric Oncology
Annett, R. D., Patel, S. K., & Phipps, S. (2015) · Pediatric Blood & Cancer · doi:10.1002/pbc.25749 · Cited by 131 · see citing works
Exogenous hormone use, reproductive factors, and risk of intracranial meningioma in females
Claus, E. B., Calvocoressi, L., Bondy, M. L., Wrensch, M., Wiemels, J. L., & Schildkraut, J. M. (2012) · Journal of neurosurgery · doi:10.3171/2012.9.jns12811 · Cited by 130 · see citing works
Clinical practice in Turner syndrome
Gravholt, C. H. (2005) · Nature Clinical Practice Endocrinology & Metabolism · doi:10.1038/ncpendmet0024 · Cited by 130 · see citing works
Self-citationIncreased 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
Self-citationGrowth Hormone Therapy of Turner Syndrome: The Impact of Age of Estrogen Replacement on Final Height
Chernausek, S. D. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.85.7.2439 · Cited by 129 · see citing works
ROSS, J. L., Roeltgen, D. P., Feuillan, P., Kushner, H., & Cutler, G. B. (1998) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.83.9.5087 · Cited by 127 · see citing works
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
Insulin Resistance: An Early Metabolic Defect of Turner's Syndrome*
Caprio, S., Boulware, S. D., Diamond, M. P., Sherwin, R. S., Carpenter, T. O., Rubin, K., Amiel, S. A., Press, M., & Tamborlane, W. V. (1991) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-72-4-832 · Cited by 126 · see citing works
Self-citationKim, 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
Self-citationLunding, 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
Ankarberg‐Lindgren, C., Elfving, M., Wikland, K. A., & Norjavaara, E. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.7.7667 · Cited by 125 · see citing works
Huang, J. Y. J., Tulandi, T., Holzer, H., Lau, N. M., MacDonald, S., Tan, S. L., & Chian, R. C. (2007) · Human Reproduction · doi:10.1093/humrep/dem307 · Cited by 124 · see citing works
Fertility preservation in Turner syndrome
Grynberg, M., Bidet, M., Bénard, J., Poulain, M., Sonigo, C., Cédrin‐Durnerin, I., & Polak, M. (2015) · Fertility and Sterility · doi:10.1016/j.fertnstert.2015.11.042 · Cited by 124 · see citing works
Use of estrogen in young girls with Turner syndrome: Effects on memory
Ross, J. L., Roeltgen, D., Feuillan, P., Kushner, H., & Cutler, G. B. (2000) · Neurology · doi:10.1212/wnl.54.1.164 · Cited by 123 · 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
Recombinant growth hormone for children and adolescents with Turner syndrome
Baxter, L., Bryant, J., Cave, C. B., & Milne, R. (2007) · Cochrane Database of Systematic Reviews · doi:10.1002/14651858.cd003887.pub2 · Cited by 122 · see citing works
Foy, J. M. (2010) · PEDIATRICS · doi:10.1542/peds.2010-0788c · Cited by 121 · see citing works
Stinson, J., Kohut, S. A., Spiegel, L., White, M., Gill, N., Colbourne, G., Sigurdson, S., Duffy, K. W., Tucker, L., Stringer, E., et al. (2014) · International Journal of Adolescent Medicine and Health · doi:10.1515/ijamh-2013-0512 · 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
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
Turner Syndrome Is an Independent Risk Factor for Aortic Dilation in the Young
Lopez, L., Arheart, K. L., Colan, S. D., Strickman-Stein, N., Lopez‐Mitnik, G., Lin, A. E., Reller, M. D., Ventura, R., & Silberbach, M. (2008) · PEDIATRICS · doi:10.1542/peds.2007-2807 · Cited by 119 · see citing works
Self-citationNabhan, Z. M., DiMeglio, L. A., Qi, R., Perkins, S. M., & Eugster, E. A. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-2123 · Cited by 119 · see citing works
Gravholt, C. H., Lauridsen, A. L., Brixen, K., Mosekilde, L., Heickendorff, L., & Christiansen, J. S. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.6.8598 · Cited by 119 · see citing works
Self-citationRosenfield, R. L., Devine, N. A., Hunold, J. J., Mauras, N., Moshang, T., & Root, A. W. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-1081 · Cited by 118 · see citing works
Self-citationHagman, 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
Self-citationCongenital Cardiovascular Disease in Turner Syndrome
Bondy, C. A. (2008) · Congenital Heart Disease · doi:10.1111/j.1747-0803.2007.00163.x · Cited by 117 · see citing works
The associations of chronic condition type and individual characteristics with transition readiness
Beal, S. J., Riddle, I. K., Kichler, J. C., Duncan, A., Houchen, A., Casnellie, L., Woodward, J., & Corathers, S. D. (2016) · Academic Pediatrics · doi:10.1016/j.acap.2016.06.007 · Cited by 117 · see citing works
Long-term safety of recombinant human growth hormone in Turner syndrome
Bolar, K., Hoffman, A. R., Maneatis, T., & Lippe, B. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-1723 · Cited by 116 · see citing works
Ji, J., Zöller, B., Sundquist, J., & Sundquist, K. (2016) · International Journal of Cancer · doi:10.1002/ijc.30126 · Cited by 116 · see citing works
Darendelıler, F., Karagiannis, G., & Wilton, P. (2007) · Hormone Research in Paediatrics · doi:10.1159/000110474 · Cited by 115 · see citing works
Detection of low level sex chromosome mosaicism in Ullrich–Turner syndrome patients
Wiktor, A. E., & Dyke, D. L. V. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30954 · Cited by 115 · see citing works
Hagen, C. P., Main, K. M., Kjaergaard, S., & Juul, A. (2010) · Human Reproduction · doi:10.1093/humrep/deq291 · Cited by 114 · see citing works
Bodri, D., Vernaeve, V., Figueras, F., Vidal, R., Guillén, J. J., & Coll, O. (2005) · Human Reproduction · doi:10.1093/humrep/dei396 · Cited by 114 · see citing works
Roman, M. J., Pugh, N. L., Hendershot, T. P., Devereux, R. B., Dietz, H., Holmes, K. W., Eagle, K. A., LeMaire, S. A., Milewicz, D. M., Morris, S. A., et al. (2016) · Journal of the American Heart Association · doi:10.1161/jaha.116.004052 · Cited by 114 · see citing works
Self-citationLandin-Wilhelmsen, K., Bryman, I., & Wilhelmsen, L. (2001) · The Journal of Clinical Endocrinology & 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
Sas, T. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.84.12.4607 · Cited by 111 · see citing works
Self-citationOktay, K., & Bedoschi, G. (2014) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2014.01.003 · Cited by 110 · see citing works
Social cognition in Turner’s Syndrome
Burnett, A., Reutens, D. C., & WOOD, A. G. (2010) · Journal of Clinical Neuroscience · doi:10.1016/j.jocn.2009.09.006 · Cited by 109 · 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
Self-citationConstructing more meaningful relationships: Mnemonic instruction for special populations
Mastropieri, M. A., & Scruggs, T. E. (1989) · Educational Psychology Review · doi:10.1007/bf01326638 · Cited by 109 · see citing works
Lacro, R. V., Jones, K. L., & Benirschke, K. (1988) · PEDIATRICS · doi:10.1542/peds.81.3.445 · Cited by 108 · see citing works
Growth Hormone Treatment of Short Stature: Status of the Quality of Life Rationale
Sandberg, D. E., & Colsman, M. (2005) · Hormone Research in Paediatrics · doi:10.1159/000086593 · Cited by 108 · see citing works
Self-citationMathur, A., Stekol, L., Schatz, D., Maclaren, N. K., Scott, M. L., & Lippe, B. M. (1991) · PubMed · Cited by 106 · see citing works
Flagged first, then by citations
Research works printed but not linked: 3
- Eds MB Ranke & RG Rosenfeld. Amsterdam: Elsevier Science Publishing, 2016.
- Bright Futures. Guidelines for Health Supervision of Infants, Children and Adolescents. Third edition ed. Elk Grove Village, IL: American Academy of Pediatrics, 2008. 463
- Pennington BF, Bender B, Puck M, Salbenblatt J & Robinson A. Learning disabilities in children with sex chromosome anomalies. Child Development 1982 53 1182-1192. (doi:10.2307/1129006) 566 · DOI
Cited by
Sorted by citations
2018 ESC Guidelines for the management of cardiovascular diseases during pregnancy
Regitz-Zagrosek, V., Roos-Hesselink, J. W., Bauersachs, J., Blomström-Lundqvist, C., Cífková, R., De Bonis, M., Iung, B., Johnson, M. R., Kintscher, U., Kranke, P., et al. (2018) · European Heart Journal · doi:10.1093/eurheartj/ehy340 · Cited by 2,292 · see citing works
Isselbacher, E. M., Preventza, O., Hamilton Black, J., Augoustides, J. G., Beck, A. W., Bolen, M. A., Braverman, A. C., Bray, B. E., Brown-Zimmerman, M. M., Chen, E. P., et al. (2022) · Circulation · doi:10.1161/cir.0000000000001106 · Cited by 2,082 · see citing works
2024 ESC Guidelines for the management of peripheral arterial and aortic diseases
Mazzolai, L., Teixidó‐Turà, G., Lanzi, S., Boc, V., Bossone, E., Brodmann, M., Bura-Rivière, A., Backer, J. F. A. D., Déglise, S., Corte, A. D., et al. (2024) · European Heart Journal · doi:10.1093/eurheartj/ehae179 · Cited by 1,219 · see citing works
2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease
Isselbacher, E. M., Preventza, O. A., Black, J. H., Augoustides, J. G., Beck, A. W., Bolen, M. A., Braverman, A. C., Bray, B. E., Brown-Zimmerman, M. M., Chen, E. P., et al. (2022) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2022.08.004 · Cited by 674 · see citing works
Pierpont, M. E., Brueckner, M., Chung, W. K., Garg, V., Lacro, R. V., McGuire, A. L., Mital, S., Priest, J. R., Pu, W. T., Roberts, A., et al. (2018) · Circulation · doi:10.1161/cir.0000000000000606 · Cited by 654 · see citing works
Caring for individuals with a difference of sex development (DSD): a Consensus Statement
Cools, M., Nordenström, A., Robeva, R. N., Hall, J., Westerveld, P., Flück, C. E., Köhler, B., Berra, M., Springer, A., Schweizer, K., et al. (2018) · Nature Reviews Endocrinology · doi:10.1038/s41574-018-0010-8 · Cited by 467 · see citing works
Collett‐Solberg, P. F., Ambler, G. R., Backeljauw, P. F., Bidlingmaier, M., Biller, B. M. K., Boguszewski, M. C. D. S., Cheung, P. T., Choong, C. S., Cohen, L. E., Cohen, P., et al. (2019) · Hormone Research in Paediatrics · doi:10.1159/000502231 · Cited by 370 · see citing works
Self-citation2025 ESC Guidelines for the management of cardiovascular disease and pregnancy
Backer, J. F. A. D., Haugaa, K. H., Hasselberg, N. E., de Hosson, M., Brida, M., Castelletti, S., Cauldwell, M., Cerbai, E., Crotti, L., de Groot, N. M. S., et al. (2025) · European Heart Journal · doi:10.1093/eurheartj/ehaf193 · Cited by 365 · 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
Self-citationEbeling, P. R., Nguyen, H. H., Aleksova, J., Vincent, A. J., Wong, P., & Milat, F. (2021) · Endocrine Reviews · doi:10.1210/endrev/bnab028 · Cited by 354 · see citing works
Premature ovarian insufficiency: an international menopause society white paper
Panay, N., Anderson, R. A., Nappi, R. E., Vincent, A. J., Vujovic, S., Webber, L., & Wolfman, W. (2020) · Climacteric · doi:10.1080/13697137.2020.1804547 · Cited by 297 · see citing works
Sood, E., Newburger, J. W., Anixt, J. S., Cassidy, A. R., Jackson, J. L., Jonas, R. A., Lisanti, A. J., Lopez, K. N., Peyvandi, S., Marino, B. S., et al. (2024) · Circulation · doi:10.1161/cir.0000000000001211 · Cited by 266 · 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
Self-citationClinical 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
Self-citationFinken, M. J. J., van der Steen, M., Smeets, C. C. J., Walenkamp, M. J. E., de Bruin, C., Hokken-Koelega, A., & Wit, J. M. (2018) · Endocrine Reviews · doi:10.1210/er.2018-00083 · Cited by 220 · see citing works
Hokken-Koelega, A., van der Steen, M., Boguszewski, M. C. D. S., Cianfarani, S., Dahlgren, J., Horikawa, R., Verónica Mericq, G., Rapaport, R., Al-Herbish, A. S., Braslavsky, D. G., et al. (2023) · Endocrine Reviews · doi:10.1210/endrev/bnad002 · Cited by 207 · see citing works
Witchel, S. F. (2017) · Best Practice & Research Clinical Obstetrics & Gynaecology · doi:10.1016/j.bpobgyn.2017.11.005 · Cited by 198 · see citing works
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
Self-citationNormal and Premature Adrenarche
Rosenfield, R. L. (2021) · Endocrine Reviews · doi:10.1210/endrev/bnab009 · Cited by 163 · 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
Self-citationThe changing face of Turner syndrome
Gravholt, C. H., Viuff, M., Just, J., Sandahl, K., Brun, S., van der Velden, J., Andersen, N. H., & Skakkebaek, A. (2023) · Endocrine Reviews · doi:10.1210/endrev/bnac016 · Cited by 149 · see citing works
Self-citation2022 ACC/AHA guideline for the diagnosis and management of aortic disease
Isselbacher, E. M., Preventza, O. A., Black, J. H., Augoustides, J. G., Beck, A. W., Bolen, M. A., Braverman, A. C., Bray, B. E., Brown-Zimmerman, M. M., Chen, E. P., et al. (2023) · Journal of Thoracic and Cardiovascular Surgery · doi:10.1016/j.jtcvs.2023.04.023 · Cited by 148 · 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
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
Self-citationCurrent best practice in the management of Turner syndrome
Shankar, R. K., & Backeljauw, P. F. (2017) · Therapeutic Advances in Endocrinology and Metabolism · doi:10.1177/2042018817746291 · Cited by 132 · see citing works
Self-citation2025 ACC/AHA/HRS/ISACHD/SCAI Guideline for the Management of Adults With Congenital Heart Disease
Gurvitz, M. Z., Krieger, E. V., Fuller, S., Davis, L. L., Kittleson, M. M., Aboulhosn, J., Bradley, E. A., Buber, J., Daniels, C. J., Dimopoulos, K., et al. (2025) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2025.09.006 · Cited by 132 · see citing works
Pregnancy in congenital heart disease: risk prediction and counselling
van Hagen, I. M., & Roos‐Hesselink, J. W. (2020) · Heart · doi:10.1136/heartjnl-2019-314702 · Cited by 118 · see citing works
Yasuhara, J., & Garg, V. (2021) · Translational Pediatrics · doi:10.21037/tp-21-297 · Cited by 118 · see citing works
Nordenström, A., Ahmed, S. F., van den Akker, E., Blair, J., Bonomi, M., Brachet, C., Broersen, L. H. A., Claahsen-van der Grinten, H. L., Dessens, A. B., Gawlik, A., et al. (2022) · European Journal of Endocrinology · doi:10.1530/eje-22-0073 · Cited by 108 · see citing works
Self-citationSultan, C., Gaspari, L., Maı̈moun, L., Kalfa, N., & Paris, F. (2017) · Best Practice & Research Clinical Obstetrics & Gynaecology · doi:10.1016/j.bpobgyn.2017.11.004 · Cited by 102 · see citing works
Howard, S. R. (2021) · Clinical Endocrinology · doi:10.1111/cen.14578 · Cited by 102 · see citing works
Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence
Kyritsi, E. M., & Kanaka‐Gantenbein, C. (2020) · Frontiers in Endocrinology · doi:10.3389/fendo.2020.00543 · Cited by 101 · see citing works
Lindley, K. J., Merz, C. N. B., Asgar, A., Bello, N. A., Chandra, S., Davis, M. B., Gomberg‐Maitland, M., Gulati, M., Hollier, L. M., Krieger, E. V., et al. (2021) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2021.02.026 · Cited by 94 · see citing works
Growth hormone therapy in children; research and practice – A review
Collett‐Solberg, P. F., Jorge, A. A. L., Boguszewski, M. C. D. S., Miller, B. S., Choong, C. S., Cohen, P., Hoffman, A. R., Luo, X., Radovick, S., & Saenger, P. H. (2018) · Growth Hormone & IGF Research · doi:10.1016/j.ghir.2018.12.004 · Cited by 93 · see citing works
Inherited Thoracic Aortic Disease
Fletcher, A. J., Syed, M. B. J., Aitman, T. J., Newby, D. E., & Walker, N. L. (2020) · Circulation · doi:10.1161/circulationaha.119.043756 · Cited by 93 · see citing works
Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature
Freire, B. L., Homma, T. K., Funari, M. F. A., Lerário, A. M., Vasques, G. A., Malaquias, A. C., Arnhold, I. J. P., & Jorge, A. A. L. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-01971 · Cited by 90 · see citing works
Long-term outcomes in patients with Turner syndrome: a 68-year follow-up
Fuchs, M. M., Attenhofer Jost, C., Babovic‐Vuksanovic, D., Connolly, H. M., & Egbe, A. (2019) · Journal of the American Heart Association · doi:10.1161/jaha.118.011501 · Cited by 88 · see citing works
Clinical developmental, neuropsychological, and social–emotional features of Turner syndrome
Hutaff-Lee, C. F., Bennett, E., Howell, S., & Tartaglia, N. R. (2019) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31687 · Cited by 80 · see citing works
Ontogeny of Hypothalamus-Pituitary Gonadal Axis and Minipuberty: An Ongoing Debate?
Bizzarri, C., & Cappa, M. (2020) · Frontiers in Endocrinology · doi:10.3389/fendo.2020.00187 · Cited by 80 · see citing works
Epigenetics in Turner syndrome
Álvarez-Nava, F., & Lanes, R. (2018) · Clinical Epigenetics · doi:10.1186/s13148-018-0477-0 · Cited by 79 · see citing works
Seppä, S., Kuiri‐Hänninen, T., Holopainen, E., & Voutilainen, R. (2021) · European Journal of Endocrinology · doi:10.1530/eje-20-1487 · Cited by 78 · see citing works
Deciphering short stature in children
Polidori, N., Castorani, V., Mohn, A., & Chiarelli, F. (2020) · Annals of Pediatric Endocrinology & Metabolism · doi:10.6065/apem.2040064.032 · Cited by 74 · see citing works
Clinical Indications for Growth Hormone Therapy
Danowitz, M., & Grimberg, A. (2022) · Advances in Pediatrics · doi:10.1016/j.yapd.2022.03.005 · Cited by 72 · see citing works
Non-alcoholic fatty liver disease in women – Current knowledge and emerging concepts
Eng, P. C., Forlano, R., Tan, T., Manousou, P., Dhillo, W. S., & Izzi‐Engbeaya, C. N. (2023) · JHEP Reports · doi:10.1016/j.jhepr.2023.100835 · Cited by 72 · see citing works
Genetic Basis of Human Congenital Heart DiseasePreprint
Nees, S. N., & Chung, W. K. (2019) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a036749 · Cited by 70 · see citing works
Verde, M. L., Falco, L. D., Torella, A., Savarese, G., Savarese, P., Ruggiero, R., Conte, A. M., Fico, V., Torella, M., & Fico, A. (2021) · BMC Medical Genomics · doi:10.1186/s12920-021-00941-y · Cited by 69 · see citing works
Fertility issues and pregnancy outcomes in Turner syndrome
Calanchini, M., Aye, C. Y. L., Orchard, E., Baker, K., Child, T., Fabbri, A., Mackillop, L., & Turner, H. E. (2020) · Fertility and Sterility · doi:10.1016/j.fertnstert.2020.03.002 · Cited by 68 · see citing works
Federici, S., Goggi, G., Quinton, R., Giovanelli, L., Persani, L., Cangiano, B., & Bonomi, M. (2021) · Endocrine Reviews · doi:10.1210/endrev/bnab043 · Cited by 65 · see citing works
Shaikh, A. M. A., Daftardar, H., Alghamdi, A. A., Jamjoom, M., Awidah, S., Ahmed, M. E., & Soliman, A. T. (2020) · Acta bio-medica dell'Ateneo parmense/Acta biomedica · doi:10.23750/abm.v91i1.9182 · Cited by 64 · see citing works
Wit, J. M., Kamp, G. A., Oostdijk, W., & on behalf of the Dutch Working Group on Triage and Diagnosis of Growth Disorders in Children (2019) · Hormone Research in Paediatrics · doi:10.1159/000499915 · Cited by 64 · see citing works
Epigenetics and genomics in Turner syndrome
Viuff, M. H., Skakkebaek, A. H., Nielsen, M. M., Chang, S., & Gravholt, C. H. (2019) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31683 · Cited by 63 · see citing works
Self-citationSex hormone replacement therapy in Turner syndrome—impact on morbidity and mortality
Viuff, M. H., Berglund, A., Juul, S., Andersen, N. H., Stochholm, K., & Gravholt, C. H. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgz039 · Cited by 62 · see citing works
Self-citationAvdic, H. B., Butwicka, A., Nordenström, A., Almqvist, C., Nordenskjöld, A., Engberg, H., & Frisén, L. (2021) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-021-09399-6 · Cited by 62 · see citing works
Aortic dilatation and outcome in women with Turner syndrome
Duijnhouwer, A. L., Bons, L. R., Timmers, H. J. L. M., van Kimmenade, R. R. L., Snoeren, M., Timmermans, J., van den Hoven, A. T., Kempers, M., van Dijk, A. P. J., Fleischer, K., et al. (2019) · Heart · doi:10.1136/heartjnl-2018-313716 · Cited by 60 · see citing works
Coarctation of the Aorta: Modern Paradigms Across the Lifespan
Salciccioli, K. B., & Zachariah, J. P. V. (2023) · Hypertension · doi:10.1161/hypertensionaha.123.19454 · Cited by 56 · see citing works
Endocrine Disorder in Patients With Craniopharyngioma
Zhou, Z., Zhang, S., & Hu, F. (2021) · Frontiers in Neurology · doi:10.3389/fneur.2021.737743 · Cited by 55 · see citing works
Differences/Disorders of Sex Development: Medical Conditions at the Intersection of Sex and Gender
Sandberg, D. E., & Gardner, M. (2022) · Annual Review of Clinical Psychology · doi:10.1146/annurev-clinpsy-081219-101412 · Cited by 54 · see citing works
Self-citationFoster, C., & Al-Zubeidi, H. (2018) · Pediatric Annals · doi:10.3928/19382359-20171219-01 · Cited by 54 · see citing works
Donaldson, M., Kriström, B., Ankarberg‐Lindgren, C., Verlinde, S., van der Velden, J. A. E. M., Gawlik, A., van Gelder, M. M. H. J., Sas, T., & on behalf of the European Society for Paediatric Endocrinology Turner Syndrome Working Group (2019) · Hormone Research in Paediatrics · doi:10.1159/000500050 · Cited by 54 · see citing works
Self-citationAchieving Optimal Short- and Long-term Responses to Paediatric Growth Hormone Therapy
Wit, J. M., Deeb, A., Bin-Abbas, B. S., Almutair, A., Koledova, E. B., & Savage, M. O. (2019) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.galenos.2019.2019.0088 · Cited by 53 · see citing works
Autoimmunity Predisposition in Girls With Turner Syndrome
Węgiel, M., Antosz, A., Gieburowska, J., Szeliga, K., Hankus, M., Grzybowska‐Chlebowczyk, U., Więcek, S., Małecka‐Tendera, E., & Gawlik, A. (2019) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00511 · Cited by 51 · see citing works
Cattoni, A., Parissone, F., Porcari, I., Molinari, S., Masera, N., Franchi, M. P., Cesaro, S., Gaudino, R., Passoni, P., & Balduzzi, A. (2020) · Blood Reviews · doi:10.1016/j.blre.2020.100730 · Cited by 51 · see citing works
Lin, A. E., Prakash, S. K., Andersen, N. H., Viuff, M. H., Levitsky, L. L., Rivera‐Davila, M., Crenshaw, M. L., Hansen, L., Colvin, M. K., Hayes, F. J., et al. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61310 · Cited by 50 · see citing works
Self-citationRhie, Y.-J., Yoo, J.-H., Choi, J.-H., Chae, H.-W., Kim, J. H., Chung, S., Hwang, I. T., Shin, C. H., Kim, E. Y., & Kim, H.-S. (2019) · PLoS ONE · doi:10.1371/journal.pone.0216927 · Cited by 49 · see citing works
Fiot, E., Alauze, B., Donadille, B., Samara‐Boustani, D., Houang, M., FILIPPO, G. D., Bachelot, A., Delcour, C., Beyler, C., Bois, E., et al. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02423-5 · Cited by 49 · see citing works
Kreukels, B. P. C., Cohen‐Kettenis, P. T., Roehle, R., van de Grift, T. C., Słowikowska‐Hilczer, J., der Grinten, H. L. C., Hirschberg, A. L., de Vries, A. L. C., Reisch, N., Bouvattier, C. M., et al. (2019) · Journal of Sex & Marital Therapy · doi:10.1080/0092623x.2019.1610123 · Cited by 49 · see citing works
Bioinformatic Analysis Identifies Potential Key Genes in the Pathogenesis of Turner Syndrome
Wang, H., Zhu, H., Zhu, W., Xu, Y., Wang, N., Han, B., Song, H., & Qiao, J. (2020) · Frontiers in Endocrinology · doi:10.3389/fendo.2020.00104 · Cited by 48 · see citing works
An Approach to the Patient With Delayed Puberty
Harrington, J., & Palmert, M. R. (2022) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgac054 · Cited by 47 · see citing works
Incidence of Aortic Dissection in Turner Syndrome
Thunström, S., Krantz, E., Thunström, E. Ö., Hanson, C., Bryman, I., & Landin‐Wilhelmsen, K. (2019) · Circulation · doi:10.1161/circulationaha.119.040552 · Cited by 47 · see citing works
Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy
Dabrowski, E. C., Johnson, E. K., Patel, V. K., Hsu, Y., Davis, S., Goetsch, A. L., Habiby, R. L., Brickman, W. J., & Finlayson, C. A. (2019) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2019.08.011 · Cited by 47 · see citing works
Azem, F., Brener, A., Malinger, G., Reches, A., Many, A., Yogev, Y., & Lebenthal, Y. (2020) · Fertility and Sterility · doi:10.1016/j.fertnstert.2020.03.009 · Cited by 46 · see citing works
Screening, prenatal diagnosis, and prenatal decision for sex chromosome aneuploidy
Xu, Y., Chen, L., Liu, Y., Hao, Y., Xu, Z., Deng, L., & Xie, J. (2019) · Expert Review of Molecular Diagnostics · doi:10.1080/14737159.2019.1613154 · Cited by 45 · see citing works
Schleedoorn, M. J., Mulder, B. H., Braat, D. D. M., Beerendonk, C. C. M., Peek, R., Nelen, W. L. D. M., Van Leeuwen, E., Van der Velden, A. A. E. M., & Fleischer, K. (2020) · Human Reproduction · doi:10.1093/humrep/deaa007 · Cited by 43 · see citing works
Turner syndrome systematic review: spontaneous thelarche and menarche stratified by karyotype
Dabrowski, E., Jensen, R., Johnson, E. K., Habiby, R. L., Brickman, W. J., & Finlayson, C. (2019) · Hormone Research in Paediatrics · doi:10.1159/000502902 · Cited by 43 · see citing works
Elshafie, A., Kasemy, Z. A. A., Omar, Z. A. L., Alkalash, S. H., Salama, A. A., mahrous, K. S., Hewedy, S. M., Kotb, N. M., El-Hady, H. S. A., Eladawy, E. S., et al. (2020) · The Italian Journal of Pediatrics/Italian journal of pediatrics · doi:10.1186/s13052-020-00855-y · Cited by 43 · see citing works
Reproductive Complications in Childhood Cancer Survivors
van Santen, H. M., van de Wetering, M. D., Bos, A. M. E., vd Heuvel-Eibrink, M. M., van der Pal, H. J., & Wallace, W. H. (2020) · Pediatric Clinics of North America · doi:10.1016/j.pcl.2020.08.003 · Cited by 42 · see citing works
Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis
de Andrade, J. G. R., Fabbri‐Scallet, H., Santos, A. P., Cools, M., Werner, R., Hiort, O., de Mello, M. P., Guerra‐Júnior, G., & Maciel‐Guerra, A. T. (2019) · Sexual Development · doi:10.1159/000504239 · Cited by 42 · see citing works
Pregnancy outcomes following oocyte donation
Berntsen, S., Larsen, E. C., Freiesleben, N. L. C., & Pinborg, A. B. (2020) · Best Practice & Research Clinical Obstetrics & Gynaecology · doi:10.1016/j.bpobgyn.2020.07.008 · Cited by 42 · see citing works
Calanchini, M., Moolla, A., Tomlinson, J. W., Cobbold, J. F., Grossman, A., Fabbri, A., & Turner, H. E. (2018) · Clinical Endocrinology · doi:10.1111/cen.13811 · Cited by 41 · see citing works
Gibson, C. E., Boodhansingh, K. E., Li, C., Conlin, L. K., Chen, P., Becker, S. A., Bhatti, T. R., Bamba, V., Adzick, N. S., León, D. D. D., et al. (2018) · Hormone Research in Paediatrics · doi:10.1159/000488347 · Cited by 41 · see citing works
Cameron-Pimblett, A., Davies, M. C., Burt, E., Talaulikar, V. S., La Rosa, C., King, T. F. J., & Conway, G. S. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-02137 · Cited by 40 · see citing works
Self-citationPregnancy outcome in Turner syndrome: a French multi-center study after the 2009 guidelines
Cadoret, F., Parinaud, J., Bettiol, C., Pienkowski, C., Letur, H., Ohl, J., Sentilhes, L., Papaxanthos, A., Winer, N., Mathieu d’Argent, E., et al. (2018) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/j.ejogrb.2018.08.005 · Cited by 40 · see citing works
Shear, M. A., Swanson, K., Garg, R., Jelin, A. C., Boscardin, W. J., Norton, M. E., & Sparks, T. N. (2023) · Prenatal Diagnosis · doi:10.1002/pd.6298 · Cited by 40 · 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
Immunological Profile and Predisposition to Autoimmunity in Girls With Turner Syndrome
Gawlik, A., Berdej-Szczot, E., Blat, D., Klekotka, R., Gawlik, T., Błaszczyk, E., Hankus, M., & Małecka‐Tendera, E. (2018) · Frontiers in Endocrinology · doi:10.3389/fendo.2018.00307 · Cited by 40 · see citing works
Surgery of Anomalies of Gonadal and Genital Development in the “Post-Truth Era”
Gorduza, D. B., Quigley, C. A., Caldamone, A. A., & Mouriquand, P. D. E. (2018) · Urologic Clinics of North America · doi:10.1016/j.ucl.2018.06.012 · Cited by 39 · see citing works
Self-citationSociety 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
Self-citationCardiovascular outcomes of pregnancy in Turner syndrome
Grewal, J., Valente, A. M., Egbe, A. C., Wu, F. M., Krieger, E. V., Sybert, V. P., van Hagen, I. M., Beauchesne, L. M., Rodriguez, F. H., Broberg, C. S., et al. (2021) · Heart · doi:10.1136/heartjnl-2020-316719 · Cited by 38 · see citing works
Clinical update on sensorineural hearing loss in Turner syndrome and the X-chromosome
Bonnard, Å., Bark, R., & Hederstierna, C. (2019) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31673 · Cited by 38 · see citing works
Pregnancies in women with Turner syndrome: a retrospective multicentre UK study
Cauldwell, M., Steer, P. J., Adamson, D. L., Alexander, C., Allen, L., Bhagra, C., Bolger, A., Bonner, S., Calanchini, M., Carroll, A., et al. (2021) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/1471-0528.17025 · Cited by 38 · see citing works
Cardiometabolic health in Turner syndrome
Davis, S. M., & Geffner, M. E. (2019) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31678 · Cited by 37 · see citing works
Self-citationGurvitz, M. Z., Krieger, E. V., Fuller, S., Davis, L. L., Kittleson, M. M., Aboulhosn, J., Bradley, E. A., Buber, J., Daniels, C. J., Dimopoulos, K., et al. (2025) · Circulation · doi:10.1161/cir.0000000000001402 · Cited by 37 · see citing works
Hypogonadism in Children with a Previous History of Cancer: Endocrine Management and Follow-Up
van Santen, H. M., van den Heuvel‐Eibrink, M. M., van de Wetering, M. D., & Wallace, W. H. (2019) · Hormone Research in Paediatrics · doi:10.1159/000495943 · Cited by 37 · see citing works
Glucose metabolism in Turner syndrome
Sun, L., Wang, Y., Zhou, T., Zhao, X., Wang, Y., Wang, G., & Gang, X. (2019) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00049 · Cited by 36 · see citing works
Viuff, M., & Gravholt, C. H. (2022) · Annales d Endocrinologie · doi:10.1016/j.ando.2022.06.001 · Cited by 36 · see citing works
Self-citationSex Hormones and Metabolic Dysfunction-Associated Steatotic Liver Disease
Weiskirchen, R., & Lonardo, A. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26199594 · Cited by 36 · see citing works
Challenges of fertility preservation in non‐oncological diseases
Condorelli, M., & Demeestere, I. (2019) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.1111/aogs.13577 · Cited by 36 · see citing works
Hemesath, T. P., de Paula, L. C. P., Carvalho, C. G., Leite, J. C. L., Guaragna‐Filho, G., & Costa, E. C. (2019) · Frontiers in Pediatrics · doi:10.3389/fped.2018.00419 · Cited by 36 · see citing works
Phenotypic Expression of Autoimmunity in Children With Autoimmune Thyroid Disorders
Aversa, T., Corica, D., Zirilli, G., Pajno, G. B., Salzano, G., Luca, F. D., & Wasniewska, M. G. (2019) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00476 · Cited by 36 · see citing works
Viuff, M. H., Just, J., Brun, S., Dam, T. V., Hansen, M., Melgaard, L., Hougaard, D. M., Lappe, M., & Gravholt, C. H. (2022) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgac167 · Cited by 35 · see citing works
Self-citation
- Authors
- 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., Sandberg, D. E., Sas, T. C. J., Silberbach, M., Söderström-Anttila, V., Stochholm, K., van Alfen-van derVelden, J. A., Woelfle, J., Backeljauw, P. F., & _, _.
- Affiliations
- 1Departments of Endocrinology and Internal Medicine
- Aarhus University Hospital (DK)
- University College London (GB)
- Leiden University Medical Center (NL)
- Children's Hospital Los Angeles (US)
- University of California San Diego (US)
- Massachusetts General Hospital (US)
- Nemours Children's Health System (US)
- 10St Hubert’s Island, New South Wales, Australia
- Connecticut Children's Medical Center (US)
- University of Michigan (US)
- Erasmus MC - Sophia Children’s Hospital (NL)
- Doernbecher Children's Hospital (US)
- 16Väestöliitto Fertility Clinics, Helsinki, Finland
- 18Department of Pediatric Endocrinology, Radboud University Medical Center, Amalia Children’s Hospital, Nijmegen, The Netherlands
- University of Bonn (DE)
- Cincinnati Children's Hospital Medical Center (US)
- Corresponding author
- Gravholt, Claus H
- ORCID
- Venue
- European Journal of Endocrinology
- Publisher
- Oxford University Press (OUP)
- Published
- 2017-09
- Volume
- 177
- Issue
- 3
- Pages
- G1-G70
- ISSN
- 0804-4643 (ISSN-L)
- 1479-683X
- OpenAlex
- W2735815275
- Cited by
- 1,101
- References
- 580
- Citations by year
- 2026: 37 · 2025: 82 · 2024: 170 · 2023: 159 · 2022: 123 · 2021: 144 · 2020: 148 · 2019: 151 · 2018: 74 · 2017: 9 · 2015: 1
- FWCI
- 13.52
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- European Journal of Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Leiden Repository (Leiden University) (submittedVersion)
- Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) (submittedVersion)
- Scopus (Elsevier) (submittedVersion)
- Funders
- Novo Nordisk Fonden (NNF13OC0003234, NNF15OC0016474)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R13HD089663)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Keywords
- Turner syndrome, short stature, infertility, hypertension, hormone replacement therapy, cardiovascular disease, adult care, transition to adult care, neurocognitive function, comorbidities, growth and development, multidisciplinary care
- MeSH terms
- Congresses as Topic, Europe, Female, Patient Care, Humans, Ohio, Turner Syndrome, United States, Women, Practice Guidelines as Topic
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
