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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：12/0  |  提交时间：2019/11/29
Exploring the Potential Role of Disease-Causing Mutation in a Gene Desert: Duplication of Noncoding Elements 5 ’ of GRIA3 is Associated with GRIA3 Silencing and X-Linked Intellectual Disability 期刊论文
发表期刊: HUMAN MUTATION. 出版年: 2012, 卷号: 33, 期号: 2, 页码: 355-358
作者:  Bonnet, Celine;  Masurel-Paulet, Alice;  Khan, Asma Ali;  Beri-Dexheimer, Mylene;  Callier, Patrick;  Mugneret, Francine;  Philippe, Christophe;  Thauvin-Robinet, Christel;  Faivre, Laurence;  Jonveaux, Philippe
收藏  |  浏览/下载：13/0  |  提交时间：2019/11/29
intellectual disability  GRIA3  duplication  position effect  
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development 期刊论文
发表期刊: JOURNAL OF MEDICAL GENETICS. 出版年: 2011, 卷号: 48, 期号: 12, 页码: 825-830
作者:  Benko, Sabina;  Gordon, Christopher T.;  Mallet, Delphine;  Sreenivasan, Rajini;  Thauvin-Robinet, Christel;  Brendehaug, Atle;  Thomas, Sophie;  Bruland, Ove;  David, Michel;  Nicolino, Marc;  Labalme, Audrey;  Sanlaville, Damien;  Callier, Patrick;  Malan, Valerie;  Huet, Frederic;  Molven, Anders;  Dijoud, Frederique;  Munnich, Arnold;  Faivre, Laurence;  Amiel, Jeanne;  Harley, Vincent;  Houge, Gunnar;  Morel, Yves;  Lyonnet, Stanislas
收藏  |  浏览/下载：11/0  |  提交时间：2019/11/29