Associated Papers
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery.
Danis D et al.
Hgg Advances, 2025
39394689 (PubMed )
Supplement: mmc1.pdf
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.
Sun F et al.
Orphanet Journal of Rare Diseases, 2024
38844942 (PubMed )
Supplement: 13023_2024_3220_MOESM3_ESM.xls › Sheet1
Biallelic variants in PAX3 cause Klein syndrome.
Salah S et al.
Clinical Genetics, 2022
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
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
[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
The PAX3 paired domain and homeodomain function as a single binding module in vivo to regulate subnuclear localization and mobility by a mechanism that requires base-specific recognition.
Corry GN et al.
Journal of Molecular Biology, 2010
Review and update of mutations causing Waardenburg syndrome.
Pingault V et al.
Human Mutation, 2010
Subnuclear localization and mobility are key indicators of PAX3 dysfunction in Waardenburg syndrome.
Corry GN et al.
Human Molecular Genetics, 2008
Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.
Wollnik B et al.
American Journal of Medical Genetics. Part A, 2003
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
Waardenburg syndrome.
Dourmishev AL et al.
International Journal of Dermatology, 1999
The Homeodomain Resource: sequences, structures and genomic information.
Banerjee-Basu S et al.
Nucleic Acids Research, 1999
Homozygosity for Waardenburg syndrome.
Zlotogora J et al.
American Journal of Human Genetics, 1995
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