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Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development 期刊论文
发表期刊: JOURNAL OF MEDICAL GENETICS. 出版年: 2019, 卷号: 56, 期号: 7, 页码: 434-443
作者:  Ayers, Katie;  van den Bergen, Jocelyn;  Robevska, Gorjana;  Listyasari, Nurin;  Raza, Jamal;  Atta, Irum;  Riedl, Stefan;  Rothacker, Karen;  Choong, Catherine;  Faradz, Sultana M. H.;  Sinclair, Andrew
收藏  |  浏览/下载：5/0  |  提交时间：2019/11/29
desert hedgehog  DHH  disorders of sex development  gonadal dysgenesis  
A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report 期刊论文
发表期刊: INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY. 出版年: 2018
作者:  Rothacker, Karen M.;  Ayers, Katie L.;  Tang, Dave;  Joshi, Kiranjit;  van den Bergen, Jocelyn A.;  Robevska, Gorjana;  Samnakay, Naeem;  Nagarajan, Lakshmi;  Francis, Kate;  Sinclair, Andrew H.;  Choong, Catherine S.
收藏  |  浏览/下载：7/0  |  提交时间：2021/01/08
Disorder of sex development  Desert hedgehog  DHH  Gonadal dysgenesis  Massively parallel sequencing  
Using ROADMAP Data to Identify Enhancers Associated with Disorders of Sex Development 期刊论文
发表期刊: SEXUAL DEVELOPMENT. 出版年: 2016, 卷号: 10, 期号: 2, 页码: 59-65
作者:  Ohnesorg, Thomas;  Croft, Brittany;  Tan, Jacqueline;  Sinclair, Andrew H.
收藏  |  浏览/下载：2/0  |  提交时间：2019/11/29
Disorders of sex development  Enhancer  GATA4  Regulatory elements  Roadmap Epigenomics Project  SOX9  
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort 期刊论文
发表期刊: GENOME BIOLOGY. 出版年: 2016, 卷号: 17
作者:  Eggers, Stefanie;  Sadedin, Simon;  van den Bergen, Jocelyn A.;  Robevska, Gorjana;  Ohnesorg, Thomas;  Hewitt, Jacqueline;  Lambeth, Luke;  Bouty, Aurore;  Knarston, Ingrid M.;  Tiong Yang Tan;  Cameron, Fergus;  Werther, George;  Hutson, John;  O’Connell, Michele;  Grover, Sonia R.;  Heloury, Yves;  Zacharin, Margaret;  Bergman, Philip;  Kimber, Chris;  Brown, Justin;  Webb, Nathalie;  Hunter, Matthew F.;  Srinivasan, Shubha;  Titmuss, Angela;  Verge, Charles F.;  Mowat, David;  Smith, Grahame;  Smith, Janine;  Ewans, Lisa;  Shalhoub, Carolyn;  Crock, Patricia;  Cowell, Chris;  Leong, Gary M.;  Ono, Makato;  Lafferty, Antony R.;  Huynh, Tony;  Visser, Uma;  Choong, Catherine S.;  McKenzie, Fiona;  Pachter, Nicholas;  Thompson, Elizabeth M.;  Couper, Jennifer;  Baxendale, Anne;  Gecz, Jozef;  Wheeler, Benjamin J.;  Jefferies, Craig;  MacKenzie, Karen;  Hofman, Paul;  Carter, Philippa;  King, Richard I.;  Krausz, Csilla;  van Ravenswaaij-Arts, Conny M. A.;  Looijenga, Leendert;  Drop, Sten;  Riedl, Stefan;  Cools, Martine;  Dawson, Angelika;  Juniarto, Achmad Zulfa;  Khadilkar, Vaman;  Khadilkar, Anuradha;  Bhatia, Vijayalakshmi;  Vu Chi Dung;  Atta, Irum;  Raza, Jamal;  Nguyen Thi Diem Chi;  Tran Kiem Hao;  Harley, Vincent;  Koopman, Peter;  Warne, Garry;  Faradz, Sultana;  Oshlack, Alicia;  Ayers, Katie L.;  Sinclair, Andrew H.
收藏  |  浏览/下载：8/0  |  提交时间：2019/11/29
Disorders of sex development  Gonad  Testis  Ovaries  Ovotestes  Massively parallel sequencing  MPS  Cohort  Targeted gene panel  Genetic diagnosis  Variant  Mutation  
The Genetics of Disorders of Sex Development in Humans 期刊论文
发表期刊: SEXUAL DEVELOPMENT. 出版年: 2014, 卷号: 8, 期号: 5, 页码: 262-272
作者:  Ohnesorg, Thomas;  Vilain, Eric;  Sinclair, Andrew H.
收藏  |  浏览/下载：13/0  |  提交时间：2019/11/29
Disorders of sex development  Gonadal development  Gonadal dysgenesis  Ovary  Sex determination  Sex reversal  Testis