(Q34545164)

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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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

10

object named as

Stefan Mundlos

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Anna Sowinska-Seidler

4

object named as

Anna Sowinska-Seidler

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Aleksander Jamsheer

object named as

Aleksander Jamsheer

2

0 references

Malte Spielmann

object named as

Malte Spielmann

11

0 references

object named as

Eva Klopocki

9

0 references

Ricarda Flöttmann

3

object named as

Ricarda Flöttmann

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Barbara Oehl-Jaschkowitz

6

object named as

Barbara Oehl-Jaschkowitz

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Wiebke Hülsemann

7

object named as

Wiebke Hülsemann

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

author name string

Naeimeh Tayebi

1

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Sandra C Doelken

5

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Rolf Habenicht

8

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

publication date

29 July 2014

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Orphanet Journal of Rare Diseases

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

108

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

DLX5, FGF8 and the Pin1 isomerase control ΔNp63α protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

Functional changes between seasons in the male songbird auditory forebrain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

Split-hand/foot malformation - molecular cause and implications in genetic counseling.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

Structural variations, the regulatory landscape of the genome and their alteration in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

CNVs of noncoding cis-regulatory elements in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

Coding exons function as tissue-specific enhancers of nearby genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

VISTA Enhancer Browser--a database of tissue-specific human enhancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

Genetic disorders of the skeleton: a developmental approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

Pathogenesis of split-hand/split-foot malformation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

The Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

Patterning mechanisms controlling vertebrate limb development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

Distal limb malformations: underlying mechanisms and clinical associations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

Pathogenetic classification of a series of 27,145 consecutive infants with congenital defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

Craniofacial, vestibular and bone defects in mice lacking the Distal-less-related gene Dlx5.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

A split hand-split foot (SHFM3) gene is located at 10q24-->25.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4237947

7 July 2018

Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients.

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0108-6

21 January 2018

Functional characterization of tissue-specific enhancers in the DLX5/6 locus

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0108-6

21 January 2018

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0108-6

21 January 2018

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.

1 reference

https://api.crossref.org/works/10.1186%2FS13023-014-0108-6

21 January 2018

Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26-q26.1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25231166

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Split-hand and split-foot deformity inherited as an autosomal recessive trait

1 reference

https://pubmed.ncbi.nlm.nih.gov/25231166

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Recessive Form of Ectrodactyly, and its Implications in Genetic Counseling

1 reference

https://pubmed.ncbi.nlm.nih.gov/25231166

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The expanding panorama of split hand foot malformation

1 reference

https://pubmed.ncbi.nlm.nih.gov/25231166

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/S13023-014-0108-6

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

ResearchGate publication ID

0 references

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