Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster
about
A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactylyThe fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactylySplit hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb developmentHuman HOX gene mutationsComplete mutation analysis panel of the 39 human HOX genesLimb malformations and the human HOX genesGenome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysisPosterior Hox gene expression in developing genitalia.Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.Submicroscopic copy-number variations associated with 46,XY disorders of sex development.Drosophila, the golden bug, emerges as a tool for human genetics.HOX genes: seductive science, mysterious mechanisms.Ocular anomalies associated with interstitial deletion of chromosome 2q31: case report and review.Breakpoints around the HOXD cluster result in various limb malformations.Cohesin and human disease.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.2q31.1 microdeletion syndrome: case report and literature review.4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation.Appendages and gene regulatory networks: Lessons from the limbless.A double dealing tale of p63: an oncogene or a tumor suppressor.Modular phenotypic plasticity: divergent responses of barnacle penis and feeding leg form to variation in density and wave-exposure.Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome.Isolated bilateral transverse agenesis of the distal segments of the lower limbs at the level of the knee joint in a human fetus.Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster.Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update.
P2860
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P2860
Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster
description
1999 nî lūn-bûn
@nan
1999 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Monodactylous limbs and abnorm ...... that includes the HOXD cluster
@ast
Monodactylous limbs and abnorm ...... that includes the HOXD cluster
@en
Monodactylous limbs and abnorm ...... that includes the HOXD cluster
@nl
type
label
Monodactylous limbs and abnorm ...... that includes the HOXD cluster
@ast
Monodactylous limbs and abnorm ...... that includes the HOXD cluster
@en
Monodactylous limbs and abnorm ...... that includes the HOXD cluster
@nl
prefLabel
Monodactylous limbs and abnorm ...... that includes the HOXD cluster
@ast
Monodactylous limbs and abnorm ...... that includes the HOXD cluster
@en
Monodactylous limbs and abnorm ...... that includes the HOXD cluster
@nl
P2093
P2860
P356
P1476
Monodactylous limbs and abnorm ...... that includes the HOXD cluster
@en
P2093
A N Veraksa
J T Mascarello
M Del Campo
T Drumheller
W McGinnis
Z Ali-Kahn-Catts
P2860
P304
P356
10.1086/302467
P407
P577
1999-07-01T00:00:00Z