about
Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergenceIdentification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridiaPax6 3' deletion results in aniridia, autism and mental retardationSequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergencesFunctional dissection of the paired domain of Pax6 reveals molecular mechanisms of coordinating neurogenesis and proliferationAuditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutationA novel mutation of PAX6 in Chinese patients with new clinical features of Peters' anomalyMolecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities.PAX6 haplotypes are associated with high myopia in Han chinese.A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract.Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects.Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutationsUsing protein design algorithms to understand the molecular basis of disease caused by protein-DNA interactions: the Pax6 example.Large novel deletions detected in Chinese families with aniridia: correlation between genotype and phenotypePAX6 gene analysis in irido-fundal coloboma.Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.Molecular description of eye defects in the zebrafish Pax6b mutant, sunrise, reveals a Pax6b-dependent genetic network in the developing anterior chamber.Mutation spectrum of PAX6 in Chinese patients with aniridia.Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients.PAX6 analysis of one family and one sporadic patient from southern China with classic aniridia.A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern ChinaAniridia.A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia.Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease.Genetics of anterior segment dysgenesis disorders.Genotype-phenotype correlation of PAX6 gene mutations in aniridiaRelationship of Pax6 activity levels to the extent of eye development in the mouse, Mus musculusMolecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations.Mutation analysis of paired box 6 gene in inherited aniridia in northern China.Assessment of PAX6 alleles in 66 families with aniridia.Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.PAX6 aniridia and interhemispheric brain anomalies.Eye anomalies and neurological manifestations in patients with PAX6 mutations.NMD: RNA biology meets human genetic medicine.Update on pediatric glaucoma.A review of the clinical and genetic aspects of aniridia.Genomics and anterior segment dysgenesis: a review.Genetic regulation of vertebrate eye development.
P2860
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P2860
description
2005 nî lūn-bûn
@nan
2005 թուականին հրատարակուած գիտական յօդուած
@hyw
2005 թվականին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
PAX6 mutations: genotype-phenotype correlations
@ast
PAX6 mutations: genotype-phenotype correlations
@en
PAX6 mutations: genotype-phenotype correlations
@nl
type
label
PAX6 mutations: genotype-phenotype correlations
@ast
PAX6 mutations: genotype-phenotype correlations
@en
PAX6 mutations: genotype-phenotype correlations
@nl
prefLabel
PAX6 mutations: genotype-phenotype correlations
@ast
PAX6 mutations: genotype-phenotype correlations
@en
PAX6 mutations: genotype-phenotype correlations
@nl
P2860
P3181
P356
P1433
P1476
PAX6 mutations: genotype-phenotype correlations
@en
P2093
Ian M S White
P2860
P2888
P3181
P356
10.1186/1471-2156-6-27
P407
P577
2005-05-26T00:00:00Z
P5875
P6179
1034281512