|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I.
|
31190477 |
2019 |
|
Waardenburg Syndrome Type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
First report of Klein-Waardenburg Syndrome in Iran and a novel pathogenic splice site variant in PAX3 gene.
|
30173992 |
2018 |
|
Waardenburg Syndrome Type 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report.
|
30314436 |
2018 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These previously unreported digenic mutations in PAX3/GJB2 resulted in deafness associated with Waardenburg syndrome type I in this family.
|
29287868 |
2018 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The R270G PAX3 retained nuclear distribution and normal DNA-binding ability; however, it failed to activate MITF promoter, suggesting that haploinsufficiency may be the underlying mechanism for the mild WS1 phenotype of the study family.
|
29158168 |
2018 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Waardenburg syndrome: Novel mutations in a large Brazilian sample.
|
29407415 |
2018 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic analyses revealed that the proband had no mutation in PAX3 which has been known as the cause of WS1, but had a homozygous missense mutation (p.R319W) in endothelin receptor type B (EDNRB) gene.
|
28502583 |
2018 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
About 96% of WS1 are due to PAX3 mutations, and SOX10 mutations have been reported in 15% of WS2.
|
29792164 |
2018 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report.
|
30314436 |
2018 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients.
|
29224756 |
2017 |
|
Waardenburg Syndrome Type 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.
|
28690861 |
2017 |
|
Waardenburg Syndrome Type 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A new missense mutation in the paired domain of the mouse Pax3 gene.
|
28381738 |
2017 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We present a patient with Waardenburg syndrome type 1 caused by a novel missense variant in PAX3, presenting with myelomeningocele, Arnold-Chiari malformation, and hydrocephalus at birth.
|
28686331 |
2017 |
|
Waardenburg Syndrome Type 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A spontaneous and novel Pax3 mutant mouse that models Waardenburg syndrome and neural tube defects.
|
28043919 |
2017 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations.
|
27031059 |
2016 |
|
Waardenburg Syndrome Type 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.
|
27759048 |
2016 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel compound heterozygous mutation c.[169_170insC;172_174delAAG] (p.His57ProfsX55) was identified in PAX3, which was co-segregated with WS1 in the Chinese family.
|
26824486 |
2016 |
|
Waardenburg Syndrome Type 1
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea.
|
25932447 |
2015 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family.
|
26279250 |
2015 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations.
|
26275939 |
2015 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pax3 mutations result in malformed inner ears in Splotch mutant mice and hearing loss in humans with Waardenburg's syndrome type I.
|
24565836 |
2014 |
|
Waardenburg Syndrome Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
The objective of the present study was to facilitate the accurate diagnosis of WS1 through genetic analysis of PAX3 and to expand the spectrum of known PAX3 mutations.
|
23163891 |
2013 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.
|
23378733 |
2013 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.
|
21965087 |
2012 |
|
Waardenburg Syndrome Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our findings expand the frequency and spectrum of PAX3 mutations and ethnic-related phenotypes in Chinese patients with WS1.
|
20664692 |
2010 |