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The Desert Hedgehog Signalling Pathway in Human Gonadal Development and Differences of Sex Development 期刊论文
发表期刊: SEXUAL DEVELOPMENT. 出版年: 2021
作者:  Pachernegg, Svenja;  Georges, Elizabeth;  Ayers, Katie
收藏  |  浏览/下载：38/0  |  提交时间：2021/11/19
Desert hedgehog  Differences of sex development  Gonadal dysgenesis  Testis development  
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：15/0  |  提交时间：2019/11/29
desert hedgehog  DHH  disorders of sex development  gonadal dysgenesis  
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：17/0  |  提交时间：2019/11/29
Disorders of sex development  Gonadal dysgenesis  Desert hedgehog gene  Peripheral minifascicular neuropathy  
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：21/0  |  提交时间：2021/01/08
Disorder of sex development  Desert hedgehog  DHH  Gonadal dysgenesis  Massively parallel sequencing  
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：18/0  |  提交时间：2019/11/29
46  XY DSD  desert hedgehog  DHH  disorders of sex development  gonadal dysgenesis  
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：19/0  |  提交时间：2019/11/29
disorders of sex development  SRY  NR5A1  gonadal dysgenesis  adrenal hyperplasia  
Development of ovarian germline stem cells in Nile tilapia (Oreochromis niloticus) reared under different temperature regimes 学位论文
出版年: 2016
作者:  Habibah;Aulidya Nurul
收藏  |  浏览/下载：11/0  |  提交时间：2019/11/29
630  Gonadal development  Nile tilapia  Elevated temperature  Sex determination  Temperature  Germ line stem cells  Vasa  PCNA  Land- und Forstwirtschaft (PPN621302791)  
Food availability, energetic constraints and reproductive development in a wild seasonally breeding songbird 期刊论文
发表期刊: FUNCTIONAL ECOLOGY. 出版年: 2015, 卷号: 29, 期号: 11, 页码: 1421-1434
作者:  Davies, Scott;  Cros, Thomas;  Richard, Damien;  Meddle, Simone L.;  Tsutsui, Kazuyoshi;  Deviche, Pierre
收藏  |  浏览/下载：9/0  |  提交时间：2019/11/29
gonad development  gonadotropin-inhibitory hormone  gonadotropin-releasing hormone  hypothalamic-pituitary-gonadal axis  luteinizing hormone  neuropeptide Y  reproductive physiology  seasonal reproduction  testosterone  
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：21/0  |  提交时间：2019/11/29
Disorders of sex development  Gonadal development  Gonadal dysgenesis  Ovary  Sex determination  Sex reversal  Testis  
Divergent Expression Regulation of Gonad Development Genes in Medaka Shows Incomplete Conservation of the Downstream Regulatory Network of Vertebrate Sex Determination 期刊论文
发表期刊: MOLECULAR BIOLOGY AND EVOLUTION. 出版年: 2013, 卷号: 30, 期号: 10, 页码: 2328-2346
作者:  Herpin, Amaury;  Adolfi, Mateus C.;  Nicol, Barbara;  Hinzmann, Maria;  Schmidt, Cornelia;  Klughammer, Johanna;  Engel, Mareen;  Tanaka, Minoru;  Guiguen, Yann;  Schartl, Manfred
收藏  |  浏览/下载：20/0  |  提交时间：2019/11/29
gene regulatory network evolution  divergent expression regulation  gonadal development  adaptive evolution