Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations
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The Greig cephalopolysyndactyly syndromeImmunohistochemical analysis of Sonic hedgehog signalling in normal human urinary tract developmentMediator modulates Gli3-dependent Sonic hedgehog signalingVACTERL/VATER AssociationOesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiologyLower urinary tract development and diseaseUsing VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyGli3Xt-J/Xt-J mice exhibit lambdoid suture craniosynostosis which results from altered osteoprogenitor proliferation and differentiationA sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathyMassively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.Hedgehog signaling regulates sensory cell formation and auditory function in mice and humans.GLI3 repressor controls functional development of the mouse ureterUrogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor.Human GLI3 intragenic conserved non-coding sequences are tissue-specific enhancers.Point mutations in GLI3 lead to misregulation of its subcellular localization.Renal dysplasia characterized by prominent cartilaginous metaplasia lesions in VACTERL association: A case report.Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.Nonsense-mediated decay in genetic disease: friend or foe?New insights into genotype-phenotype correlation for GLI3 mutations.Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.Wnt and FGF mediated epithelial-mesenchymal crosstalk during lung development.Genetic and cellular mechanisms regulating anterior foregut and esophageal development.Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlationsWhat you can learn from one gene: GLI3Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease.Anorectal atresia and variants at predicted regulatory sites in candidate genes.Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus.A review of hedgehog signaling in cranial bone developmentHoloprosencephaly-Polydactyly syndrome: in search of an etiology.Sonic Hedgehog Signaling and VACTERL Association.Adriamycin-Induced Models of VACTERL Association.Embryology of oesophageal atresia.Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7).The Expression of Gli3 and Teashirt3 in the Stenotic Tissue of Congenital Pelvi-Ureteric Junction Obstruction in Children.Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome
P2860
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P2860
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations
description
2005 nî lūn-bûn
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2005 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Molecular and clinical analyse ...... and position of GLI3 mutations
@ast
Molecular and clinical analyse ...... and position of GLI3 mutations
@en
type
label
Molecular and clinical analyse ...... and position of GLI3 mutations
@ast
Molecular and clinical analyse ...... and position of GLI3 mutations
@en
prefLabel
Molecular and clinical analyse ...... and position of GLI3 mutations
@ast
Molecular and clinical analyse ...... and position of GLI3 mutations
@en
P2093
P2860
P356
P1476
Molecular and clinical analyse ...... and position of GLI3 mutations
@en
P2093
Alan E Guttmacher
Albert David
Angela E Lin
Arthur S Aylsworth
Billur Moghaddam
Carlo Marcelis
Carol Booth
Catherine M Walsh Vockley
Christina Killoran
Cynthia J Curry
P2860
P304
P356
10.1086/429346
P407
P577
2005-02-28T00:00:00Z