Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis-Reference-Cited by-同舟云学术

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Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis

Published:2015-05 Issue:5 Volume:103 Page:1297-1304
ISSN:0015-0282
Container-title:Fertility and Sterility
language:en
Short-container-title:Fertility and Sterility

Author:

Bastian Claire,Muller Jean-Baptiste,Lortat-Jacob Stephen,Nihoul-Fékété Claire,Bignon-Topalovic Joelle,McElreavey Ken,Bashamboo Anu,Brauner Raja

Publisher

Elsevier BV

Subject

Obstetrics and Gynaecology,Reproductive Medicine

Reference30 articles.

1. Gene mutations associated with anomalies of human gonad formation;Bashamboo;Sex Dev,2013

2. XY sex reversal associated with a deletion 5' to the SRY “HMG box” in the testis-determining region;McElreavy;Proc Natl Acad Sci U S A,1992

3. Analysis of the Wilms' tumor suppressor gene (WT1) in patients 46,XY disorders of sex development;Köhler;J Clin Endocrinol Metab,2011

4. A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy;Umehara;Am J Hum Genet,2000

5. Gonadal dysgenesis without adrenal insufficiency in a 46,XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency;Mallet;J Clin Endocrinol Metab,2004

Cited by 18 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic factors of reproductive disorders in female;Reproductive and Developmental Medicine;2024-03-14

2. A case of 46,XY complete gonadal dysgenesis with a novel missense variant in SRY;CLIN PEDIATR ENDOCRI;2023

3. A case of 46,XY complete gonadal dysgenesis with a novel missense variant in <i>SRY</i>;Clinical Pediatric Endocrinology;2023

4. Testicular Sertoli Cell Hormones in Differences in Sex Development;Frontiers in Endocrinology;2022-07-14

5. Systematic Review of Genotype-Phenotype Correlations in Frasier Syndrome;Kidney International Reports;2021-10

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