Associated Papers
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.
Sun F et al.
Orphanet Journal of Rare Diseases, 2024
Pax7 pioneer factor action requires both paired and homeo DNA binding domains.
Pelletier A et al.
Nucleic Acids Research, 2021
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Williamson KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Neural tube defects in Waardenburg syndrome: A case report and review of the literature.
Hart J et al.
American Journal of Medical Genetics. Part A, 2017
[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
PAX3/forkhead homolog in rhabdomyosarcoma oncoprotein activates glucose transporter 4 gene expression in vivo and in vitro.
Armoni M et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
A cascade of genes related to Waardenburg syndrome.
Tachibana M
The Journal of Investigative Dermatology. Symposium Proceedings, 1999
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
Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.
Asher JH et al.
Human Mutation, 1996
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
Transcriptional regulation of gene expression: mechanisms and pathophysiology.
Semenza GL
Human Mutation, 1994
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A et al.
Ear and Hearing, 0
Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss.
Tropitzsch A et al.
Ear and Hearing, 0
Genetic diagnosis of childhood sensorineural hearing loss.
Reda Del Barrio S et al.
Acta Otorrinolaringologica Espanola, 0