Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia.
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Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergencePAX6 gene variations associated with aniridia in south IndiaPax6 3' deletion results in aniridia, autism and mental retardationPAX6 mutations: genotype-phenotype correlationsSequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergencesCrystal Structure of Elongator Subcomplex Elp4-6Analysis of Pax6 contiguous gene deletions in the mouse, Mus musculus, identifies regions distinct from Pax6 responsible for extreme small-eye and belly-spotting phenotypesRapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotypeInvolvement of BcElp4 in vegetative development, various environmental stress response and virulence of Botrytis cinereaLong-range control of gene expression: emerging mechanisms and disruption in disease.Controlled somatic and germline copy number variation in the mouse modelEnhancer chip: detecting human copy number variations in regulatory elementsCombination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family.Large novel deletions detected in Chinese families with aniridia: correlation between genotype and phenotypeT-cell immune responses to Wilms tumor 1 protein in myelodysplasia responsive to immunosuppressive therapyDisorders caused by chromosome abnormalities.Identification of genomic regions regulating Pax6 expression in embryonic forebrain using YAC reporter transgenic mouse lines.Mutation spectrum of PAX6 in Chinese patients with aniridia.PAX6 and congenital eye malformations.Cytogenetics and gene discovery in psychiatric disorders.Retroviral enhancer detection insertions in zebrafish combined with comparative genomics reveal genomic regulatory blocks - a fundamental feature of vertebrate genomes.Aniridia.Prenatal Diagnosis of WAGR Syndrome.Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGHDynamic interactions between the promoter and terminator regions of the mammalian BRCA1 geneLong-range downstream enhancers are essential for Pax6 expression.Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.A nonsense PAX6 mutation in a family with congenital aniridia.The incidence and type of chromosomal translocations from prenatal diagnosis of 3800 patients in the republic of macedonia.Regulation of cerebral cortical neurogenesis by the Pax6 transcription factor.Characterization of a 3;6 translocation associated with renal cell carcinoma.[Aniridia syndrome: clinical findings, problematic courses and suggestions for optimization of care ("aniridia guide")].Novel presentation of Omenn syndrome in association with aniridia.Clinical utility gene card for: Aniridia.11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia.Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion.Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.Characterization of an evolutionarily conserved metallophosphoesterase that is expressed in the fetal brain and associated with the WAGR syndrome.The genetics of aniridia - simple things become complicated.
P2860
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P2860
Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
2002年论文
@zh
2002年论文
@zh-cn
name
Frequent chromosome aberration ...... ies in patients with aniridia.
@en
type
label
Frequent chromosome aberration ...... ies in patients with aniridia.
@en
prefLabel
Frequent chromosome aberration ...... ies in patients with aniridia.
@en
P2860
P356
P1476
Frequent chromosome aberration ...... ies in patients with aniridia.
@en
P2093
John A Crolla
P2860
P304
P356
10.1086/344396
P407
P577
2002-10-17T00:00:00Z