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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：37/0  |  提交时间：2021/11/19
Desert hedgehog  Differences of sex development  Gonadal dysgenesis  Testis development  
Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility 期刊论文
发表期刊: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS. 出版年: 2021
作者:  Mehta, Poonam;  Singh, Priyamvada;  Gupta, Nalini J.;  Sankhwar, Satya Narayan;  Chakravarty, Baidyanath;  Thangaraj, Kumarasamy;  Rajender, Singh
收藏  |  浏览/下载：14/0  |  提交时间：2021/07/30
DHH gene  Gonadal dysgenesis  Male infertility  Cryptorchidism  
46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene 期刊论文
发表期刊: HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM. 出版年: 2019, 卷号: 18, 期号: 3, 页码: 315-320
作者:  Neocleous, Vassos;  Fanis, Pavlos;  Cinarli, Feride;  Kokotsis, Vasilis;  Oulas, Anastasios;  Toumba, Meropi;  Spyrou, George M.;  Phylactou, Leonidas A.;  Skordis, Nicos
收藏  |  浏览/下载：15/0  |  提交时间：2021/11/30
Primary amenorrhea  46XY  Gonadal dysgenesis  Desert hedgehog  DHH gene  
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：13/0  |  提交时间：2019/11/29
desert hedgehog  DHH  disorders of sex development  gonadal dysgenesis  
In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis 期刊论文
发表期刊: HUMAN MUTATION. 出版年: 2018, 卷号: 39, 期号: 12, 页码: 2097-2109
作者:  Tajouri, Asma;  Kharrat, Maher;  Hizem, Syrine;  Zaghdoudi, Hajer;  M’rad, Ridha;  Simic-Schleicher, Gunter;  Kaiser, Frank J.;  Hiort, Olaf;  Werner, Ralf
收藏  |  浏览/下载：11/0  |  提交时间：2019/11/29
46,XY DSD  auto-processing  Desert hedgehog  gonadal dysgenesis  polyneuropathy  
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：16/0  |  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：17/0  |  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  
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：20/0  |  提交时间：2019/11/29
Disorders of sex development  Gonadal development  Gonadal dysgenesis  Ovary  Sex determination  Sex reversal  Testis