Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families
about
Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina).Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-pairedShort GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophySynpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tractNovel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndromeDeletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactylyComparative genomics and molecular dynamics of DNA repeats in eukaryotesMutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndromeA genome-wide association study identifies a genomic region for the polycerate phenotype in sheep (Ovis aries).Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese familiesHuman HOX gene mutationsComplete mutation analysis panel of the 39 human HOX genesLimb malformations and the human HOX genesTibial agenesis, femoral duplication, and caudal midline anomalies.Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I?Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.The homeobox transcription factor HOXA9 is a regulator of SHOX in U2OS cells and chicken micromass culturesMolecular-pathogenetic classification of genetic disorders of the skeleton.Advances in the Molecular Genetics of Non-syndromic Syndactyly.The epidemiology, genetics and future management of syndactyly.Drosophila, the golden bug, emerges as a tool for human genetics.HOX genes: Major actors in resistance to selective endocrine response modifiers.Breakpoints around the HOXD cluster result in various limb malformations.Functional Assessment of Clubfoot Associated HOXA9, TPM1, and TPM2 Variants Suggests a Potential Gene Regulation MechanismFork stalling and template switching as a mechanism for polyalanine tract expansion affecting the DYC mutant of HOXD13, a new murine model of synpolydactyly.Folate modulates Hox gene-controlled skeletal phenotypes.Tail gut endoderm and gut/genitourinary/tail development: a new tissue-specific role for Hoxa13.A large family with type IV radial polydactyly.Skeletal dysplasias detectable by DNA analysis.Reply to leder and hodge.Hypoplastic synpolydactyly as a new clinical subgroup of synpolydactyly.Spatio-temporal expression of HOX genes in human hindgut development.Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster.Mapping the four-horned locus and testing the polled locus in three Chinese sheep breeds.
P2860
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P2860
Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families
description
1996 nî lūn-bûn
@nan
1996 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Genomic structure of HOXD13 ge ...... tyly in two unrelated families
@ast
Genomic structure of HOXD13 ge ...... tyly in two unrelated families
@en
Genomic structure of HOXD13 ge ...... tyly in two unrelated families
@nl
type
label
Genomic structure of HOXD13 ge ...... tyly in two unrelated families
@ast
Genomic structure of HOXD13 ge ...... tyly in two unrelated families
@en
Genomic structure of HOXD13 ge ...... tyly in two unrelated families
@nl
prefLabel
Genomic structure of HOXD13 ge ...... tyly in two unrelated families
@ast
Genomic structure of HOXD13 ge ...... tyly in two unrelated families
@en
Genomic structure of HOXD13 ge ...... tyly in two unrelated families
@nl
P2093
P356
P1476
Genomic structure of HOXD13 ge ...... tyly in two unrelated families
@en
P2093
P304
P356
10.1093/HMG/5.7.945
P407
P577
1996-07-01T00:00:00Z