ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 3 results

ey0019.6-8 | Basic and Genetic Research of DSD | ESPEYB19

6.8. Targeting the non-coding genome for the diagnosis of disorders of sex development

G Atlas , R Sreenivasan , A Sinclair

Sex Dev. 2021;15(5-6):392-410. PMID: 34634785, doi: 10.1159/000519238. Brief Summary: This review summarizes how non-coding genomic variants are identified and validated, and why non-coding defects found in DSD patients have to be considered when investigating the genetic etiology of DSD.Accurate genetic diagnosis of 46,XY DSD patients remains crucial for early treatment and ...
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ey0019.6-9 | Basic and Genetic Research of DSD | ESPEYB19

6.9. Whole exome sequencing reveals copy number variants in individuals with disorders of sex development

R Sreenivasan , K Bell , den Bergen J van , G Robevska , D Belluoccio , R Dahiya , GM Leong , J Dulon , P Touraine , EJ Tucker , K Ayers , A Sinclair

Mol Cell Endocrinol. 2022 Apr 15;546:111570. PMID: 35051551, doi: 10.1016/j.mce.2022.111570. Brief Summary: This report emphasizes the importance of screening for copy number variants (CNVs) using parallel genomic techniques for diagnosing unsolved cases of complete androgen insensitivity syndrome (CAIS) as well as other DSDs, where traditional sequencing techniques fail to detect a genetic...
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ey0016.6-3 | New Functions of (Old) Genes | ESPEYB16

6.3. Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

B Croft , T Ohnesorg , J Hewitt , J Bowles , A Quinn , J Tan , V Corbin , E Pelosi , J van den Bergen , R Sreenivasan , I Knarston , G Robevska , DC Vu , J Hutson , V Harley , K Ayers , P Koopman , A Sinclair

Nat Commun. 2018 Dec 14;9(1):5319.doi: 10.1038/s41467-018-07784-9. PubMed [citation] PMID: 30552336Initial steps in the sex determination of the (human) testis depend on SRY regulating SOX9, but the exact mechanism that controls SOX9 expression remains unknown. These authors discovered four overlapping copy number variations (CNVs) upstr...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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