PMC Articles for MedGen (Select 412961) - PMC

Select item 96320491.

A comprehensive genotype–phenotype evaluation of eight Chinese probands with Waardenburg syndrome

Sijun Li, Mengyao Qin, Shuang Mao, Lingyun Mei, Xinzhang Cai, Yong Feng, Chufeng He, Jian Song

BMC Med Genomics. 2022; 15: 230. Published online 2022 Nov 3. doi: 10.1186/s12920-022-01379-6

PMCID:: PMC9632049

Select item 74747912.

A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II

Sen Chen, Yuan Jin, Le Xie, Wen Xie, Kai Xu, Yue Qiu, Xue Bai, Hui-Min Zhang, Xiao-Zhou Liu, Xiao-Hui Wang, Wei-Jia Kong, Yu Sun

Neural Plast. 2020; 2020: 9260807. Published online 2020 Aug 28. doi: 10.1155/2020/9260807

PMCID:: PMC7474791

Abstract Article PDF–982K

Select item 43907073.

Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea

Mi-Ae Jang, Taeheon Lee, Junnam Lee, Eun-Hae Cho, Chang-Seok Ki

Ann Lab Med. 2015 May; 35(3): 362–365. Published online 2015 Apr 1. doi: 10.3343/alm.2015.35.3.362

PMCID:: PMC4390707

Abstract Article PDF–395K

Select item 36941504.

Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia

Long Cui, Emily Hoi-Man Wong, Guo Cheng, Manoel Firmato de Almeida, Man-Ting So, Pak-Chung Sham, Stacey S. Cherny, Paul Kwong-Hang Tam, Maria-Mercè Garcia-Barceló

PLoS One. 2013; 8(6): e66631. Published online 2013 Jun 26. doi: 10.1371/journal.pone.0066631

PMCID:: PMC3694150

Abstract Article PDF–441K

Select item 34211175.

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4

Nadége Bondurand, Virginie Fouquet, Viviane Baral, Laure Lecerf, Natalie Loundon, Michel Goossens, Benedicte Duriez, Philippe Labrune, Veronique Pingault

Eur J Hum Genet. 2012 Sep; 20(9): 990–994. Published online 2012 Feb 29. doi: 10.1038/ejhg.2012.29

PMCID:: PMC3421117

Abstract Article PDF–368K

Select item 34134206.

Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy

Saketh Kapoor, Parayil Sankaran Bindu, Arun B. Taly, Sanjib Sinha, Narayanappa Gayathri, S. Vasantha Rani, Giriraj Ratan Chandak, Arun Kumar

Mol Vis. 2012; 18: 2022–2032. Published online 2012 Jul 20.

PMCID:: PMC3413420

Abstract Article PDF–1.0M

Select item 22763407.

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

Nadege Bondurand, Florence Dastot-Le Moal, Laure Stanchina, Nathalie Collot, Viviane Baral, Sandrine Marlin, Tania Attie-Bitach, Irina Giurgea, Laurent Skopinski, William Reardon, Annick Toutain, Pierre Sarda, Anis Echaieb, Marilyn Lackmy-Port-Lis, Renaud Touraine, Jeanne Amiel, Michel Goossens, Veronique Pingault

Am J Hum Genet. 2007 Dec; 81(6): 1169–1185. Published online 2007 Oct 22. doi: 10.1086/522090

PMCID:: PMC2276340

Abstract Article PDF–666K

Select item 13780138.

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.

R L Touraine, T Attié-Bitach, E Manceau, E Korsch, P Sarda, V Pingault, F Encha-Razavi, A Pelet, J Augé, A Nivelon-Chevallier, A M Holschneider, M Munnes, W Doerfler, M Goossens, A Munnich, M Vekemans, S Lyonnet

Am J Hum Genet. 2000 May; 66(5): 1496–1503. Published online 2000 Apr 4. doi: 10.1086/302895

Correction in:: Am J Hum Genet, volume 66 on page 2020

PMCID:: PMC1378013

Summary PDF–788K

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