Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.
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Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb developmentAltered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial DysostosisMapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes.Dlx5 Homeodomain:DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome.Phenotypic subregions within the split-hand/foot malformation 1 locus.Prenatal diagnosis of a 7q21.13q22.1 deletion detected using high-resolution microarray.Coding exons function as tissue-specific enhancers of nearby genesDeletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report.Delineation of a de novo 7q21.3q31.1 Deletion by CGH-SNP Arrays in a Girl with Multiple Congenital Anomalies Including Severe Glaucoma.Split-hand/foot malformation - molecular cause and implications in genetic counseling.Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features.Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I.A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1.Split-Hand Malformation in a 4-Year-Old Child.Functional characterization of tissue-specific enhancers in the DLX5/6 locus.Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.Deletion of a Long-Range Dlx5 Enhancer Disrupts Inner Ear Development in Mice.
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P2860
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.
description
2009 nî lūn-bûn
@nan
2009 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2009年の論文
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2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
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name
Split hand/foot malformation due to chromosome 7q aberrations
@nl
Split hand/foot malformation d ...... cy as the causative mechanism.
@ast
Split hand/foot malformation d ...... cy as the causative mechanism.
@en
type
label
Split hand/foot malformation due to chromosome 7q aberrations
@nl
Split hand/foot malformation d ...... cy as the causative mechanism.
@ast
Split hand/foot malformation d ...... cy as the causative mechanism.
@en
prefLabel
Split hand/foot malformation due to chromosome 7q aberrations
@nl
Split hand/foot malformation d ...... cy as the causative mechanism.
@ast
Split hand/foot malformation d ...... cy as the causative mechanism.
@en
P2093
P2860
P356
P1476
Split hand/foot malformation d ...... cy as the causative mechanism.
@en
P2093
Anneke T van Silfhout
Birgit Sikkema-Raddatz
Conny M A van Ravenswaaij-Arts
Joke B G M Verheij
Maran J W Olderode-Berends
Peter C van den Akker
Trijnie Dijkhuizen
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P2888
P304
P356
10.1038/EJHG.2009.72
P577
2009-04-29T00:00:00Z
P5875
P6179
1020707202