Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development-Reference-Cited by-同舟云学术

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Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development

Published:2017-03 Issue: Volume:444 Page:19-25
ISSN:0303-7207
Container-title:Molecular and Cellular Endocrinology
language:en
Short-container-title:Molecular and Cellular Endocrinology

Author:

Kim Ja Hye,Kang Eungu,Heo Sun Hee,Kim Gu-Hwan,Jang Ja-Hyun,Cho Eun-Hae,Lee Beom Hee,Yoo Han-Wook,Choi Jin-Ho

Funder

Asan Institute for Life Sciences, Asan Medical Center, Seoul, Korea

Publisher

Elsevier BV

Subject

Endocrinology,Molecular Biology,Biochemistry

Reference28 articles.

1. Disorders of sex development: effect of molecular diagnostics;Achermann;Nat. Rev. Endocrinol.,2015

2. Targeted ablation of the WW domain-containing oxidoreductase tumor suppressor leads to impaired steroidogenesis;Aqeilan;Endocrinology,2009

3. Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development;Arboleda;Clin. Genet.,2013

4. New genomic technologies: an aid for diagnosis of disorders of sex development;Barseghyan;Horm. Metab. Res.,2015

5. Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome;Batch;Hum. Mol. Genet.,1992

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1. Whole-genome de novo sequencing reveals genomic variants associated with differences of sex development in SRY negative pigs;Biology of Sex Differences;2024-09-02

2. Genomic technologies and the diagnosis of 46, XY differences of sex development;Andrology;2024-07-31

3. Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants;Frontiers in Genetics;2024-06-10

4. Identification and functional analysis of a rare variant of gene DHX37 in a patient with 46,XY disorders of sex development;Molecular Genetics & Genomic Medicine;2024-05

5. Identifying infrequent genetic changes in monozygotic twins afflicted with hypospadias via targeted panel sequencing;Investigative and Clinical Urology;2024

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