Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
about
Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridiaPax6 3' deletion results in aniridia, autism and mental retardationHuman brain evolution: harnessing the genomics (r)evolution to link genes, cognition, and behaviorGWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromePAX6 analysis of two sporadic patients from southern China with classic aniridia.Aniridia.Eye anomalies and neurological manifestations in patients with PAX6 mutations.Genetic and early life influences on the human retinal microcirculation.Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.Discovery and assessment of conserved Pax6 target genes and enhancers.Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.The genetics of aniridia - simple things become complicated.Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features
P2860
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P2860
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
description
2006 nî lūn-bûn
@nan
2006 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
@ast
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
@en
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
@nl
type
label
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
@ast
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
@en
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
@nl
prefLabel
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
@ast
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
@en
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
@nl
P2093
P2860
P1433
P1476
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
@en
P2093
Benjamin H Ticho
Clair Hilchie-Schmidt
David Robinson
Elias I Traboulsi
Rachel J Howarth
Robert T Egel
P2860
P304
P356
10.1080/13816810600976897
P577
2006-12-01T00:00:00Z