Turner's syndrome
Abstract
Before chromosomal analysis became available, the diagnosis of Turner's syndrome was based on the characteristics independently described by Otto Ullrich and Henry Turner, such as short stature, gonadal dysgenesis, typical, visible dysmorphic stigmata, and abnormalities in organs, which present in individuals with a female phenotype. Today, Turner's syndrome or Ullrich-Turner's syndrome may be defined as the combination of characteristic physical features and complete or part absence of one of the X chromosomes, frequently accompanied by cell-line mosaicism. The increasing interest in Turner's syndrome over the past two decades has been motivated both by the quest for a model by which the multi-faceted features of this disorder can be understood, and the endeavour to provide life-long support to the patient. New developments in research allow patients with Turner's syndrome to have multidisciplinary care.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
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?
Greater prevalence of short stature and gonadal dysgenesis among women with Turner's syndrome compared with unaffected women.
“Greater prevalence of short stature and gonadal dysgenesis among women with Turner's syndrome compared with unaffected women15”
From Genders, sexes, and health: what are the connections—and why does it matter? (2003) · cites this paper as [15]
Cites
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
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
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
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
Flagged first, then by citations
Cited by
Sorted by citations
Genders, sexes, and health: what are the connections—and why does it matter?
Krieger, N. (2003) · International Journal of Epidemiology · doi:10.1093/ije/dyg156 · Cited by 788 · see citing works
Pluripotent stem cells in disease modelling and drug discovery
Avior, Y., Sagi, I., & Benvenisty, N. (2016) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm.2015.27 · Cited by 592 · see citing works
The X chromosome and immune associated genes
Bianchi, I., Lleo, A., Gershwin, M. E., & Invernizzi, P. (2012) · Journal of Autoimmunity · doi:10.1016/j.jaut.2011.11.012 · Cited by 378 · see citing works
Gender differences in skin: A review of the literature
Dao, H., & Kazin, R. A. (2007) · Gender Medicine · doi:10.1016/s1550-8579(07)80061-1 · Cited by 199 · 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
Binder, G., Baur, F., Schweizer, R., & Ranke, M. B. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-1581 · Cited by 165 · see citing works
Self-citationTurner 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
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
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
Prenatal Diagnosis of Turner Syndrome: Report on 69 Cases
Papp, C., Beke, A., Mezei, G., Szigeti, Z., Bán, Z., & Papp, Z. (2006) · Journal of Ultrasound in Medicine · doi:10.7863/jum.2006.25.6.711 · Cited by 74 · see citing works
Peek, R., Schleedoorn, M., Smeets, D., van de Zande, G., Groenman, F., Braat, D., van der Velden, J., & Fleischer, K. (2019) · Human Reproduction · doi:10.1093/humrep/dez135 · Cited by 67 · see citing works
Bondy, C. A., Ceniceros, I., Van, P. L., Bakalov, V. K., & Rosing, D. R. (2006) · PEDIATRICS · doi:10.1542/peds.2006-0776 · Cited by 59 · see citing works
Binder, G., Trebar, B., Baur, F., Schweizer, R., & Ranke, M. B. (2008) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2007.03090.x · Cited by 48 · see citing works
Self-citationPeek, R., Nadesapillai, S., Thi Nguyen, T. Y., Vassart, S., Smeets, D., van de Zande, G., Camboni, A., Braat, D., van der Velden, J., Donnez, J., et al. (2023) · Fertility and Sterility · doi:10.1016/j.fertnstert.2023.04.008 · Cited by 30 · see citing works
A highly sensitive, high-throughput assay for the detection of Turner syndrome
Rivkees, S. A., Hager, K., Hosono, S., Wise, A., Li, P., Rinder, H. M., & Gruen, J. R. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-1554 · Cited by 28 · see citing works
Liver biochemical abnormalities in adolescent patients with Turner syndrome
Wójcik, M., Ruszała, A., Januś, D., & Starzyk, J. B. (2019) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.galenos.2019.2018.0271 · Cited by 13 · see citing works
Prevalence of otological disease in Turner syndrome: a systematic review
Geerardyn, A., Willaert, A., Decallonne, B., Desloovere, C., & Verhaert, N. (2021) · Otology & Neurotology · doi:10.1097/mao.0000000000003118 · Cited by 9 · see citing works
Detection of Turner Syndrome by Quantitative PCR of <i>SHOX</i> and <i>VAMP7</i> Genes
Ibarra-Ramírez, M., Zamudio-Osuna, M. J., Campos-Acevedo, L. D., Gallardo-Blanco, H. L., Cerda-Flores, R. M., Rodríguez-Sánchez, I. P., & Martínez-de-Villarreal, L. E. (2015) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2014.0236 · Cited by 8 · see citing works
Akalın, A., Ertuğrul, İ., Şimşek-Kiper, P. Ö., Utine, G. E., & Boduroğlu, K. (2021) · Molecular Syndromology · doi:10.1159/000516816 · Cited by 4 · see citing works
- Authors
- Ranke, M. B., & Saenger, P.
- Affiliations
- University Children's Hospital Tübingen (DE)
- Albert Einstein College of Medicine (US)
- Corresponding author
- Ranke, Michael B
- ORCID
- Ranke, Michael B
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 2001-07
- Volume
- 358
- Issue
- 9278
- Pages
- 309-314
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- OpenAlex
- W1994536036
- Cited by
- 345
- References
- 4
- Citations by year
- 2026: 9 · 2025: 11 · 2024: 11 · 2023: 25 · 2022: 8 · 2021: 11 · 2020: 7 · 2019: 14 · 2018: 9 · 2017: 15 · 2016: 11 · 2015: 9 · 2014: 17 · 2013: 18 · 2012: 17
- FWCI
- 1.39
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Lancet (publishedVersion)
- PubMed (publishedVersion)
- 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, Ullrich-Turner syndrome, X chromosome deletion, gonadal dysgenesis, short stature, dysmorphic features, multidisciplinary care
- MeSH terms
- Adult, Female, Humans, Male, Research, Turner Syndrome
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
