(Q37658711)

English

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

scientific article published on 23 January 2014

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Hana Lango Allen

1

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Richard Caswell

object named as

Richard Caswell

2

0 references

Michael N Weedon

object named as

Michael N Weedon

8

0 references

object named as

Sian Ellard

9

0 references

Peter Turnpenny

6

object named as

Peter D Turnpenny

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

author name string

Weijia Xie

3

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Xiao Xu

4

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Christopher Wragg

5

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Claire L S Turner

7

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

language of work or name

0 references

publication date

23 January 2014

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

51

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

4

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

264-267

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

Clinical diagnosis by whole-genome sequencing of a prenatal sample

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963551

23 August 2017

Copy Number Variation detection from 1000 Genomes Project exon capture sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963551

23 August 2017

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963551

23 August 2017

An exome sequencing pipeline for identifying and genotyping common CNVs associated with disease with application to psoriasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963551

23 August 2017

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963551

23 August 2017

Copy number variation detection and genotyping from exome sequence data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963551

23 August 2017

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=3963551

23 August 2017

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=3963551

23 August 2017

Accurate and exact CNV identification from targeted high-throughput sequence data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963551

23 August 2017

Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963551

23 August 2017

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=3963551

23 August 2017

Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963551

23 August 2017

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=3963551

23 August 2017

Pronounced reduction in adenoma recurrence associated with aspirin use and a polymorphism in the ornithine decarboxylase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963551

23 August 2017

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=3963551

23 August 2017

On the inheritance of the 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=3963551

14 September 2017

The genetics of hand malformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963551

14 September 2017

Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963551

28 September 2017

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963551

1 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3963551

1 September 2018

Anomalous inheritance in a kindred with split hand, split foot malformation

1 reference

https://pubmed.ncbi.nlm.nih.gov/24459211

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMEDGENET-2013-102142

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

21 August 2017

ResearchGate publication ID

0 references

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