Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
about
Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and humanFurther delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutationsLocalisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease.The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.The orphan nuclear receptor Tlx regulates Pax2 and is essential for visionOptic nerve axon number in mouse is regulated by PAX2Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.Two novel EGFP insertion alleles reveal unique aspects of Pax2 function in embryonic and adult kidneys.Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.Renal coloboma syndrome.PAX2 in human kidney malformations and disease.Clinical utility gene card for: renal coloboma (Papillorenal) syndrome.Pathogenesis of ectrodactyly in the Dactylaplasia mouse: aberrant cell death of the apical ectodermal ridge.Groucho suppresses Pax2 transactivation by inhibition of JNK-mediated phosphorylation.Unravelling the genetics of vesicoureteric reflux: a common familial disorder.The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.The Transcription Factor Foxg1 Promotes Optic Fissure Closure in the Mouse by Suppressing Wnt8b in the Nasal Optic Stalk.CHARGE association: an update and review for the primary pediatrician.Lens and retina formation require expression of Pitx3 in Xenopus pre-lens ectoderm.Insight into the molecular genetics of myopia.New ocular phenotype associated with a mutation in the PAX2 gene
P2860
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P2860
Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年学术文章
@wuu
1995年学术文章
@zh
1995年学术文章
@zh-cn
1995年学术文章
@zh-hans
1995年学术文章
@zh-my
1995年学术文章
@zh-sg
1995年學術文章
@yue
1995年學術文章
@zh-hant
name
Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
@en
Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
@nl
type
label
Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
@en
Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
@nl
prefLabel
Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
@en
Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
@nl
P2093
P356
P1476
Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies
@en
P2093
Carpenter BL
Johnson MR
Kashtan CE
Pierpont ME
P304
P356
10.1002/AJMG.1320590217
P577
1995-11-01T00:00:00Z