Literature DB >> 18348274

A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.

Matías Morín1, Antonio Viñuela, Teresa Rivera, Manuela Villamar, Miguel A Moreno-Pelayo, Felipe Moreno, Ignacio del Castillo.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2008        PMID： 18348274     DOI： 10.1002/ajmg.a.32181

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  6 in total

Review 1.  Sox proteins in melanocyte development and melanoma.

Authors:  Melissa L Harris; Laura L Baxter; Stacie K Loftus; William J Pavan
Journal:  Pigment Cell Melanoma Res       Date:  2010-04-22       Impact factor: 4.693

2.  Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.

Authors:  Veronique Pingault; Laurence Pierre-Louis; Asma Chaoui; Alain Verloes; Elisabeth Sarrazin; Goran Brandberg; Nadege Bondurand; Peter Uldall; Sylvie Manouvrier-Hanu
Journal:  Am J Med Genet A       Date:  2014-05-20       Impact factor: 2.802

3.  De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

Authors:  Ash Zawerton; Baojin Yao; J Paige Yeager; Tommaso Pippucci; Abdul Haseeb; Joshua D Smith; Lisa Wischmann; Susanne J Kühl; John C S Dean; Daniela T Pilz; Susan E Holder; Alisdair McNeill; Claudio Graziano; Véronique Lefebvre
Journal:  Am J Hum Genet       Date:  2019-01-17       Impact factor: 11.025

4.  Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in SOX10.

Authors:  Xiaoyu Yu; Yun Lin; Hao Wu
Journal:  Neural Plast       Date:  2020-08-28       Impact factor: 3.599

Review 5.  Sorting Sox: Diverse Roles for Sox Transcription Factors During Neural Crest and Craniofacial Development.

Authors:  Elizabeth N Schock; Carole LaBonne
Journal:  Front Physiol       Date:  2020-12-08       Impact factor: 4.566

6.  Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family.

Authors:  L Sólia-Nasser; S-N de Aquino; L-M R Paranaíba; A Gomes; P Dos-Santos-Neto; R-D Coletta; A-F Cardoso; A-C Frota; H Martelli-Júnior
Journal:  Med Oral Patol Oral Cir Bucal       Date:  2016-05-01
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.