Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia
about
Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorderVariants in TRIM44 Cause Aniridia by Impairing PAX6 ExpressionComparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger SyndromeGenetic and genomic analysis of classic aniridia in Saudi Arabia.Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation.Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.Mutation spectrum of PAX6 in Chinese patients with aniridia.Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeA Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.Aniridia.Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGHA Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population.Eye anomalies and neurological manifestations in patients with PAX6 mutations.A review of the clinical and genetic aspects of aniridia.Genomics and anterior segment dysgenesis: a review.'Congenital' nystagmus may hide various ophthalmic diagnoses.Clinical utility gene card for: Axenfeld-Rieger syndrome.Dysfunction of the stress-responsive FOXC1 transcription factor contributes to the earlier-onset glaucoma observed in Axenfeld-Rieger syndrome patients.Clinical utility gene card for: Aniridia.Molecular characterization of newborn glaucoma including a distinct aniridic phenotype.FOXC1, the new player in the cancer sandbox.
P2860
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P2860
Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia
description
2009 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2009
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im August 2009 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
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wetenschappelijk artikel (gepubliceerd op 2009/08/01)
@nl
наукова стаття, опублікована в серпні 2009
@uk
مقالة علمية (نشرت في أغسطس 2009)
@ar
name
Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia
@ast
Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia
@en
type
label
Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia
@ast
Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia
@en
prefLabel
Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia
@ast
Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia
@en
P2093
P921
P3181
P356
P1476
Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia
@en
P2093
Arif O. Khan
Farideh Mirzayans
Fred B. Berry
Michael A. Walter
Tim K. Footz
Yoko A. Ito
P304
P3181
P356
10.1167/IOVS.08-3032
P407
P577
2009-08-01T00:00:00Z