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Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder 期刊论文
发表期刊: CELL STEM CELL. 出版年: 2020, 卷号: 27, 期号: 5, 页码: 765-+
作者:  Long, Hannah K.;  Osterwalder, Marco;  Welsh, Ian C.;  Hansen, Karissa;  Davies, James O. J.;  Liu, Yiran E.;  Koska, Mervenaz;  Adams, Alexander T.;  Aho, Robert;  Arora, Neha;  Ikeda, Kazuya;  Williams, Ruth M.;  Sauka-Spengler, Tatjana;  Porteus, Matthew H.;  Mohun, Tim;  Dickel, Diane E.;  Swigut, Tomek;  Hughes, Jim R.;  Higgs, Douglas R.;  Visel, Axel;  Selleri, Licia;  Wysocka, Joanna
收藏  |  浏览/下载：5/0  |  提交时间：2021/01/07
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：6/0  |  提交时间：2019/11/29
ambiguous genitalia  diagnostic yield  disorders of sex development  genetics  newborn  
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  
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：9/0  |  提交时间：2019/11/29
46  XY DSD  desert hedgehog  DHH  disorders of sex development  gonadal dysgenesis  
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  
Prenatal testosterone and stuttering 期刊论文
发表期刊: EARLY HUMAN DEVELOPMENT. 出版年: 2015, 卷号: 91, 期号: 1, 页码: 43-46
作者:  Montag, Christian;  Bleek, Benjamin;  Breuer, Svenja;  Pruess, Holger;  Richardt, Kirsten;  Cook, Susanne;  Yaruss, J. Scott;  Reuter, Martin
收藏  |  浏览/下载：19/0  |  提交时间：2019/11/29
Stuttering  Prenatal testosterone  OASES  2D:4D ratio  Case control  
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 期刊论文
发表期刊: EUROPEAN JOURNAL OF HUMAN GENETICS. 出版年: 2015, 卷号: 23, 期号: 8, 页码: 1025-1032
作者:  Vetro, Annalisa;  Dehghani, Mohammad Reza;  Kraoua, Lilia;  Giorda, Roberto;  Beri, Silvana;  Cardarelli, Laura;  Merico, Maurizio;  Manolakos, Emmanouil;  Parada-Bustamante, Alexis;  Castro, Andrea;  Radi, Orietta;  Camerino, Giovanna;  Brusco, Alfredo;  Sabaghian, Marjan;  Sofocleous, Crystalena;  Forzano, Francesca;  Palumbo, Pietro;  Palumbo, Orazio;  Calvano, Savino;  Zelante, Leopoldo;  Grammatico, Paola;  Giglio, Sabrina;  Basly, Mohamed;  Chaabouni, Myriam;  Carella, Massimo;  Russo, Gianni;  Bonaglia, Maria Clara;  Zuffardi, Orsetta
收藏  |  浏览/下载：6/0  |  提交时间：2019/11/29
Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling 期刊论文
发表期刊: PLOS GENETICS. 出版年: 2014, 卷号: 10, 期号: 5
作者:  Callier, Patrick;  Calvel, Pierre;  Matevossian, Armine;  Makrythanasis, Periklis;  Bernard, Pascal;  Kurosaka, Hiroshi;  Vannier, Anne;  Thauvin-Robinet, Christel;  Borel, Christelle;  Mazaud-Guittot, Verine;  Rolland, Antoine;  Desdoits-Lethimonier, Christele;  Guipponi, Michel;  Zimmermann, Celine;  Stevant, Isabelle;  Kuhne, Francoise;  Conne, Beatrice;  Santoni, Federico;  Lambert, Sandy;  Huet, Frederic;  Mugneret, Francine;  Jaruzelska, Jadwiga;  Faivre, Laurence;  Wilhelm, Dagmar;  Jegou, Bernard;  Trainor, Paul A.;  Resh, Marilyn D.;  Antonarakis, Stylianos E.;  Nef, Serge
收藏  |  浏览/下载：3/0  |  提交时间：2019/11/29
Disorders of sex development: new genes, new concepts 期刊论文
发表期刊: NATURE REVIEWS ENDOCRINOLOGY. 出版年: 2013, 卷号: 9, 期号: 2, 页码: 79-91
作者:  Ono, Makoto;  Harley, Vincent R.
收藏  |  浏览/下载：11/0  |  提交时间：2019/11/29
A novel long-range enhancer regulates postnatal expression of Zeb2: implications for Mowat-Wilson syndrome phenotypes 期刊论文
发表期刊: HUMAN MOLECULAR GENETICS. 出版年: 2012, 卷号: 21, 期号: 26, 页码: 5429-5442
作者:  El-Kasti, Muna M.;  Wells, Timothy;  Carter, David A.
收藏  |  浏览/下载：1/0  |  提交时间：2019/11/29