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Variants in TRIM44 Cause Aniridia by Impairing PAX6 ExpressionMutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma.Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment DysgenesisXenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients.Clinical anatomy of the anterior chamber angle in congenital aniridia - and consequences for trabeculotomy/cyclophotocoagulation.Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities.Increased functional connectivity in intrinsic neural networks in individuals with aniridiaA novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation.Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.Long-term efficacy and complications of black diaphragm intraocular lens implantation in patients with traumatic aniridia.Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeA Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGHAnalysis of corneal morphologic and pathologic changes in early-stage congenital aniridic keratopathyGenotype-phenotype correlation of PAX6 gene mutations in aniridiaEngineering a Light-Attenuating Artificial IrisA Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.PAX6, brain structure and function in human adults: advanced MRI in aniridia.PAX6 MiniPromoters drive restricted expression from rAAV in the adult mouse retina.Analysis of compound heterozygotes reveals that the mouse floxed Pax6 (tm1Ued) allele produces abnormal eye phenotypes.Toward postnatal reversal of ocular congenital malformations.A nonsense PAX6 mutation in a family with congenital aniridia.Cyp1b1 Regulates Ocular Fissure Closure Through a Retinoic Acid-Independent Pathway.Establishing the pre-placodal region and breaking it into placodes with distinct identities.Eye disorders in newborn infants (excluding retinopathy of prematurity).Tissue Engineering the Cornea: The Evolution of RAFT.Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications.The long non-coding RNA Paupar regulates the expression of both local and distal genes.The zebrafish eye-a paradigm for investigating human ocular genetics.Congenital Aniridia: Clinic, Genetics, Therapeutics, and Prognosis.Primary congenital and developmental glaucomas.Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.[Aniridia syndrome: clinical findings, problematic courses and suggestions for optimization of care ("aniridia guide")].Relationship between somatic mosaicism of Pax6 mutation and variable developmental eye abnormalities-an analysis of CRISPR genome-edited mouse embryosClinical utility gene card for: Aniridia.Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants.The genetics of aniridia - simple things become complicated.Novel variants in PAX6 gene caused congenital aniridia in two Chinese families.
P2860
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P2860
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Aniridia.
@ast
Aniridia.
@en
type
label
Aniridia.
@ast
Aniridia.
@en
prefLabel
Aniridia.
@ast
Aniridia.
@en
P2860
P356
P1476
Aniridia
@en
P2093
Melanie Hingorani
P2860
P2888
P304
P356
10.1038/EJHG.2012.100
P577
2012-06-13T00:00:00Z