VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.
about
Heterozygous deletion of ventral anterior homeobox (vax1) causes subfertility in miceImputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only.Polymorphic variants in VAX1 and the risk of nonsyndromic cleft lip with or without cleft palate in a population from northern ChinaSox11 is required to maintain proper levels of Hedgehog signaling during vertebrate ocular morphogenesisNovel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.Regulation of retinal axon growth by secreted Vax1 homeodomain protein.Polymorphisms in FGF12, VCL, CX43 and VAX1 in Brazilian patients with nonsyndromic cleft lip with or without cleft palateSox4 regulates choroid fissure closure by limiting Hedgehog signaling during ocular morphogenesis.A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report.Genetics of cleft lip and cleft palate.Disrupting hedgehog and WNT signaling interactions promotes cleft lip pathogenesis.Parental consanguinity and nonsyndromic orofacial clefts in children: a systematic review and meta-analyses.Genetic Advances in Microphthalmia.Retinal axon guidance at the midline: Chiasmatic misrouting and consequences.Vax1 Plays an Indirect Role in the Etiology of Murine Cleft Palate.Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate.Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P).
P2860
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P2860
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
VAX1 mutation associated with ...... of a VAX1 phenotype in humans.
@ast
VAX1 mutation associated with ...... of a VAX1 phenotype in humans.
@en
type
label
VAX1 mutation associated with ...... of a VAX1 phenotype in humans.
@ast
VAX1 mutation associated with ...... of a VAX1 phenotype in humans.
@en
prefLabel
VAX1 mutation associated with ...... of a VAX1 phenotype in humans.
@ast
VAX1 mutation associated with ...... of a VAX1 phenotype in humans.
@en
P2093
P2860
P356
P1433
P1476
VAX1 mutation associated with ...... of a VAX1 phenotype in humans.
@en
P2093
Adele Schneider
Anne M Slavotinek
Daniel F Schorderet
Elliott H Sherr
Greg Lemke
Hana Abouzeid
Mani Yahyavi
Mohammed Youssef
P2860
P304
P356
10.1002/HUMU.21658
P577
2011-12-27T00:00:00Z