Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.
about
Exploring the developmental mechanisms underlying Wolf-Hirschhorn Syndrome: Evidence for defects in neural crest cell migrationMultiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null miceGiraffe genome sequence reveals clues to its unique morphology and physiology.Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.FGFRL1 is a neglected putative actor of the FGF signalling pathway present in all major metazoan phylaThe FGFRL1 receptor is shed from cell membranes, binds fibroblast growth factors (FGFs), and antagonizes FGF signaling in Xenopus embryosExamination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm.The Fibroblast Growth Factor signaling pathwayWolf-Hirschhorn syndrome: A review and update.Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.Identification of a novel FGFRL1 MicroRNA target site polymorphism for bone mineral density in meta-analyses of genome-wide association studies.Wolf-Hirschhorn syndrome: A case demonstrated by a cytogenetic study.Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.Airway Management in a Patient with Wolf-Hirschhorn Syndrome.Biology of FGFRL1, the fifth fibroblast growth factor receptor.Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder.LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition.Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth.C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development.Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions.109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome.Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome.Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques
P2860
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P2860
Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.
description
2008 nî lūn-bûn
@nan
2008 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Wolf-Hirschhorn syndrome facia ...... the WHSCR and WHSCR 2 regions.
@ast
Wolf-Hirschhorn syndrome facia ...... the WHSCR and WHSCR 2 regions.
@en
Wolf-Hirschhorn syndrome facia ...... the WHSCR and WHSCR 2 regions.
@nl
type
label
Wolf-Hirschhorn syndrome facia ...... the WHSCR and WHSCR 2 regions.
@ast
Wolf-Hirschhorn syndrome facia ...... the WHSCR and WHSCR 2 regions.
@en
Wolf-Hirschhorn syndrome facia ...... the WHSCR and WHSCR 2 regions.
@nl
prefLabel
Wolf-Hirschhorn syndrome facia ...... the WHSCR and WHSCR 2 regions.
@ast
Wolf-Hirschhorn syndrome facia ...... the WHSCR and WHSCR 2 regions.
@en
Wolf-Hirschhorn syndrome facia ...... the WHSCR and WHSCR 2 regions.
@nl
P2093
P2860
P356
P1476
Wolf-Hirschhorn syndrome facia ...... the WHSCR and WHSCR 2 regions.
@en
P2093
Hannelie Engbers
Jasper J van der Smagt
Joris R Vermeesch
Martin Poot
Ron Hochstenbach
Ruben van 't Slot
P2860
P2888
P304
P356
10.1038/EJHG.2008.168
P577
2008-10-01T00:00:00Z