Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly
about
A symphony of inner ear developmental control genes.DLX5 (distal-less homeobox 5) promotes tumor cell proliferation by transcriptionally regulating MYCSplit hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3Dlx genes, p63, and ectodermal dysplasias.Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19Human chromosome 7: DNA sequence and biologySplitting p63The Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal developmentAnalysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial cleftsEvidence that AEC syndrome and Bowen--Armstrong syndrome are variable expressions of the same diseaseMouse model of split hand/foot malformation type IDrosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes.Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes.Phenotypic subregions within the split-hand/foot malformation 1 locus.Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35)Long-range control of gene expression: emerging mechanisms and disruption in disease.p63 in skin development and ectodermal dysplasias.Ectodermal dysplasias: a new clinical-genetic classificationP63 gene mutations and human developmental syndromes.Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure.Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.Distal limb malformations: underlying mechanisms and clinical associations.Regulation of mandibular growth and morphogenesis.Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.Genetically altered mouse models: the good, the bad, and the ugly.17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).Two translocations of chromosome 15q associated with dyslexia.Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.Tourette syndrome in a pedigree with a 7;18 translocation: identification of a YAC spanning the translocation breakpoint at 18q22.3.Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report.Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies.Identification of direct downstream targets of Dlx5 during early inner ear development.Transcriptome analysis of periodontitis-associated fibroblasts by CAGE sequencing identified DLX5 and RUNX2 long variant as novel regulators involved in periodontitis.4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation.p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.Fluorescent in situ mapping of the murine deleted in split hand/split foot 1 (dss1) gene to chromosome 6.Cloning of a DSS1 pseudogene (DSS1P1) and mapping to human chromosome band 5q14.
P2860
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P2860
Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly
description
1994 nî lūn-bûn
@nan
1994 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Physical mapping of the split ...... tion in syndromic ectrodactyly
@ast
Physical mapping of the split ...... tion in syndromic ectrodactyly
@en
Physical mapping of the split ...... tion in syndromic ectrodactyly
@nl
type
label
Physical mapping of the split ...... tion in syndromic ectrodactyly
@ast
Physical mapping of the split ...... tion in syndromic ectrodactyly
@en
Physical mapping of the split ...... tion in syndromic ectrodactyly
@nl
prefLabel
Physical mapping of the split ...... tion in syndromic ectrodactyly
@ast
Physical mapping of the split ...... tion in syndromic ectrodactyly
@en
Physical mapping of the split ...... tion in syndromic ectrodactyly
@nl
P2093
P3181
P356
P1476
Physical mapping of the split ...... tion in syndromic ectrodactyly
@en
P2093
S W Scherer
P304
P3181
P356
10.1093/HMG/3.8.1345
P407
P577
1994-08-01T00:00:00Z