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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：16/0  |  提交时间：2019/11/29
desert hedgehog  DHH  disorders of sex development  gonadal dysgenesis  
Genetic testing of XY newborns with a suspected disorder of sex development 期刊论文
发表期刊: CURRENT OPINION IN PEDIATRICS. 出版年: 2018, 卷号: 30, 期号: 4, 页码: 548-557
作者:  Alimussina, Malika;  Diver, Louise Ann;  McGowan, Ruth;  Ahmed, Syed Faisal
收藏  |  浏览/下载：25/0  |  提交时间：2019/11/29
ambiguous genitalia  diagnostic yield  disorders of sex development  genetics  newborn  
Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review 期刊论文
发表期刊: HORMONE RESEARCH IN PAEDIATRICS. 出版年: 2018, 卷号: 89, 期号: 3, 页码: 141-149
作者:  Baldinotti, Fulvia;  Cavallaro, Tiziana;  Dati, Eleonora;  Baroncelli, Giampiero I.;  Bertini, Veronica;  Valetto, Angelo;  Massart, Francesco;  Fabrizi, Gian Maria;  Zanette, Giampietro;  Peroni, Diego;  Bertelloni, Silvano
收藏  |  浏览/下载：18/0  |  提交时间：2019/11/29
Disorders of sex development  Gonadal dysgenesis  Desert hedgehog gene  Peripheral minifascicular neuropathy  
A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations 期刊论文
发表期刊: CLINICAL ENDOCRINOLOGY. 出版年: 2017, 卷号: 87, 期号: 5, 页码: 539-544
作者:  Paris, Francoise;  Flatters, Delphine;  Caburet, Sandrine;  Legois, Berangere;  Servant, Nadege;  Lefebvre, Herve;  Sultan, Charles;  Veitia, Reiner A.
收藏  |  浏览/下载：20/0  |  提交时间：2019/11/29
46  XY DSD  desert hedgehog  DHH  disorders of sex development  gonadal dysgenesis  
Genetic Screening of Iranian Patients with 46,XY Disorders of Sex Development 期刊论文
发表期刊: REPORTS OF BIOCHEMISTRY AND MOLECULAR BIOLOGY. 出版年: 2017, 卷号: 6, 期号: 1, 页码: 58-65
作者:  Shojaei, Azadeh;  Ebrahimzadeh-Vesal, Reza;  Ali, Ahani;  Razzaghy-Azar, Maryam;  Khakpour, Golnaz;  Ghazi, Farideh;  Tavakkoly-Bazzaz, Javad
收藏  |  浏览/下载：24/0  |  提交时间：2021/01/08
Array-Comparative Genomic Hybridization  (Array-CGH)  Disorders of sex development (DSDs)  Mutation  
Challenges in the diagnosis and management of disorders of sex development 期刊论文
发表期刊: BIRTH DEFECTS RESEARCH PART C-EMBRYO TODAY-REVIEWS. 出版年: 2016, 卷号: 108, 期号: 4, 页码: 293-308
作者:  Kutney, Katherine;  Konczal, Laura;  Kaminski, Beth;  Uli, Naveen
收藏  |  浏览/下载：24/0  |  提交时间：2019/11/29
disorders of sex development  SRY  NR5A1  gonadal dysgenesis  adrenal hyperplasia  
Why boys will be boys and girls will be girls: Human sex development and its defects 期刊论文
发表期刊: BIRTH DEFECTS RESEARCH PART C-EMBRYO TODAY-REVIEWS. 出版年: 2016, 卷号: 108, 期号: 4, 页码: 365-379
作者:  Eid, Wassim;  Biason-Lauber, Anna
收藏  |  浏览/下载：19/0  |  提交时间：2019/11/29
sex development  sex determination  sex differentiation  ovary  testis  disorders of sex development (DSD)  bipotential state  
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：10/0  |  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：26/0  |  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  
An exploration of the experiences of gays and lesbians living in the Inanada area. 学位论文
出版年: 2014
作者:  Mthembu;Nombuso Thembi.
收藏  |  浏览/下载：14/0  |  提交时间：2019/11/29
Sex differentiation.  Psychosexual disorders--KwaZulu-Natal.  Homosexuality--KwaZulu-Natal.  Gay and lesbian studies--KwaZulu-Natal.  Homophobia.  Theses--Education.