Associated Papers
Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.
Gomez VL et al.
Current Issues in Molecular Biology, 2026
Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.
He Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
A novel frameshift variant of PAX3 in a Chinese Yugur family with Waardenburg syndrome type 1.
Zhan L et al.
Frontiers in Genetics, 2025
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.
Sun F et al.
Orphanet Journal of Rare Diseases, 2024
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.
Mkaouar R et al.
Frontiers in Genetics, 2024
[Analysis of clinical phenotype and genetic variants among four Chinese pedigrees affected with Waardenburg syndrome].
Wang L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.
Wang G et al.
Human Genetics, 2022
Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss.
Batissoco AC et al.
Human Genetics, 2022
The clinical and genetic research of Waardenburg syndrome type I and II in Chinese families.
Liu Q et al.
International Journal of Pediatric Otorhinolaryngology, 2020
Comprehensive analysis of syndromic hearing loss patients in Japan.
Ideura M et al.
Scientific Reports, 2019
A clinical and genetic study of 16 Japanese families with Waardenburg syndrome.
Minami SB et al.
Gene, 2019
Waardenburg Syndrome Expression and Penetrance.
Shelby MV
Journal of Rare Diseases Research & Treatment, 2017
Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.
Sun L et al.
Scientific Reports, 2016
Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations.
Jalilian N et al.
Gene, 2015
PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1.
Wang J et al.
Molecular Vision, 2010
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
[Two novel mutations of GLA gene in Chinese patients with Fabry disease].
An GP et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2007
Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients.
Yang SZ et al.
Chinese Medical Journal, 2007
A cascade of genes related to Waardenburg syndrome.
Tachibana M
The Journal of Investigative Dermatology. Symposium Proceedings, 1999
Mutation analysis of LMX1B gene in nail-patella syndrome patients.
McIntosh I et al.
American Journal of Human Genetics, 1998
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.
DeStefano AL et al.
Human Genetics, 1998
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
The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).
Morell R et al.
Journal of Medical Genetics, 1997
Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.
Baldwin CT et al.
American Journal of Medical Genetics, 1995
PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.
Tassabehji M et al.
Human Molecular Genetics, 1994
Transcriptional regulation of gene expression: mechanisms and pathophysiology.
Semenza GL
Human Mutation, 1994