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Title
SOX10mutations mimic isolated hearing loss
Authors
Keywords
-
Journal
CLINICAL GENETICS
Volume 88, Issue 4, Pages 352-359
Publisher
Wiley
Online
2014-09-26
DOI
10.1111/cge.12506
References
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Related references
Note: Only part of the references are listed.- Phenotypic similarities and differences in patients with a p.Met112Ile mutation inSOX10
- (2014) Veronique Pingault et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness
- (2013) Veronique Pingault et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Waardenburg syndrome type 4: Report of two new cases caused bySOX10mutations in Spain
- (2013) Raquel M. Fernández et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- An Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung Disease
- (2013) Laure Lecerf et al. HUMAN MUTATION
- Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome andSOX10Mutations
- (2012) M. Elmaleh-Bergès et al. AMERICAN JOURNAL OF NEURORADIOLOGY
- Genetics
- (2012) A. Eliot Shearer et al. CURRENT OPINION IN PEDIATRICS
- Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4
- (2012) Nadége Bondurand et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2
- (2012) Viviane Baral et al. PLoS One
- A Sox10 enhancer element common to the otic placode and neural crest is activated by tissue-specific paralogs
- (2011) P. Betancur et al. DEVELOPMENT
- Identification and functional analysis ofSOX10missense mutations in different subtypes of waardenburg syndrome
- (2011) Asma Chaoui et al. HUMAN MUTATION
- Review and update of mutations causing Waardenburg syndrome
- (2010) Véronique Pingault et al. HUMAN MUTATION
- Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient
- (2010) Avencia Sánchez-Mejías et al. JOURNAL OF MOLECULAR MEDICINE-JMM
- Genomic code for Sox10 activation reveals a key regulatory enhancer for cranial neural crest
- (2010) Paola Betancur et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The Structure of Sox17 Bound to DNA Reveals a Conserved Bending Topology but Selective Protein Interaction Platforms
- (2009) Paaventhan Palasingam et al. JOURNAL OF MOLECULAR BIOLOGY
- Identification of Neural Crest and Glial Enhancers at the Mouse Sox10 Locus through Transgenesis in Zebrafish
- (2008) Anthony Antonellis et al. PLoS Genetics
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