A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly
about
A genome-wide association study identifies a genomic region for the polycerate phenotype in sheep (Ovis aries).Limb malformations and the human HOX genesDiscontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformationGenome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth diseaseExome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2.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.Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 geneThe epidemiology, genetics and future management of syndactyly.Ocular anomalies associated with interstitial deletion of chromosome 2q31: case report and review.Breakpoints around the HOXD cluster result in various limb malformations.Split-hand/foot malformation - molecular cause and implications in genetic counseling.A symphony of regulations centered on p63 to control development of ectoderm-derived structures.The molecular basis of human congenital limb malformations.Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.Limb development: a paradigm of gene regulation.Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation.Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation.Conserved expression domains for genes upstream and within the HoxA and HoxD clusters suggests a long-range enhancer existed before cluster duplication.Isolated bilateral transverse agenesis of the distal segments of the lower limbs at the level of the knee joint in a human fetus.Mapping the four-horned locus and testing the polled locus in three Chinese sheep breeds.Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update.
P2860
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P2860
A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly
description
2002 nî lūn-bûn
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2002 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի փետրվարին հրատարակված գիտական հոդված
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2002年の論文
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2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
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2002年论文
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name
A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly
@ast
A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly
@en
A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly
@nl
type
label
A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly
@ast
A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly
@en
A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly
@nl
prefLabel
A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly
@ast
A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly
@en
A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly
@nl
P2093
P2860
P356
P1476
A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly
@en
P2093
Amanda L Collins
Frances R Goodman
Frank Majewski
P2860
P304
P356
10.1086/338921
P407
P577
2002-02-01T00:00:00Z