Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.
about
Identification of a dominant negative homeodomain mutation in Rieger syndromeA preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41Collection of clinical and epidemiological data for linkage studies.Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.Developing bones are differentially affected by compromised skeletal muscle formation.Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.Collection of clinical and epidemiological data for genetic linkage and association studies.The genetic inheritance of the blue-eyed white phenotype in alpacas (Vicugna pacos).The zebrafish bonnie and clyde gene encodes a Mix family homeodomain protein that regulates the generation of endodermal precursorsA cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocationRecent insights into the pathogenesis of Diamond-Blackfan anaemia.Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.Molecular Etiology of Hereditary Single-Side Deafness: Its Association With Pigmentary Disorders and Waardenburg Syndrome.A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings.Genetics of hearing loss: where are we standing now?Inherited hearing loss: molecular genetics and diagnostic testing.Otopathology in a case of type I Waardenburg's syndrome.Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.Analysis of the 5' region of the canine PAX3 gene and exclusion as a candidate for Dalmatian deafness.Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?
P2860
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P2860
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
1998年學術文章
@zh-hant
name
Correlation between Waardenbur ...... ith identified PAX3 mutations.
@en
Correlation between Waardenbur ...... ith identified PAX3 mutations.
@nl
type
label
Correlation between Waardenbur ...... ith identified PAX3 mutations.
@en
Correlation between Waardenbur ...... ith identified PAX3 mutations.
@nl
prefLabel
Correlation between Waardenbur ...... ith identified PAX3 mutations.
@en
Correlation between Waardenbur ...... ith identified PAX3 mutations.
@nl
P2093
P50
P356
P1433
P1476
Correlation between Waardenbur ...... ith identified PAX3 mutations.
@en
P2093
A K Lalwani
A L DeStefano
C T Baldwin
E O da Silva
E R Wilcox
J Greenberg
P2888
P304
P356
10.1007/S004390050732
P577
1998-05-01T00:00:00Z