Associated Papers
The Diverse Genetic Landscape of Hearing Impairment in South African Families.
Bharadwaj T et al.
Clinical Genetics, 2025
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.
Sun F et al.
Orphanet Journal of Rare Diseases, 2024
Multiregion sampling of de novo metastatic prostate cancer reveals complex polyclonality and augments clinical genotyping.
Warner EW et al.
Nature Cancer, 2024
Biallelic variants in PAX3 cause Klein syndrome.
Salah S et al.
Clinical Genetics, 2022
New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.
Li W et al.
Neural Plasticity, 2019
Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome.
Stevenson RE et al.
American Journal of Medical Genetics. Part A, 2018
Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I.
Niu Z et al.
Gene, 2018
Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.
Wu H et al.
Plos One, 2016
A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis.
Mousty E et al.
Prenatal Diagnosis, 2015
Loading of PAX3 to Mitotic Chromosomes Is Mediated by Arginine Methylation and Associated with Waardenburg Syndrome.
Wu TF et al.
The Journal of Biological Chemistry, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
[Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].
Otręba M et al.
Postepy Higieny I Medycyny Doswiadczalnej (online), 2013
Characterization of a novel missense mutation on murine Pax3 through ENU mutagenesis.
Xiao Y et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2011
Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
Chen H et al.
Biochemical and Biophysical Research Communications, 2010
Review and update of mutations causing Waardenburg syndrome.
Pingault V et al.
Human Mutation, 2010
Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?
Tekin M et al.
Clinical Genetics, 2001
A cascade of genes related to Waardenburg syndrome.
Tachibana M
The Journal of Investigative Dermatology. Symposium Proceedings, 1999
Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.
Carey ML et al.
Journal of Medical Genetics, 1998