Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly (Q34326133)

1 August 2017

Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly (English)

1 reference

1 August 2017

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Hui Li

1

1 reference

1 August 2017

Cheng-Ye Wang

2

1 reference

1 August 2017

Jia-Xin Wang

3

1 reference

1 August 2017

Gui-Sheng Wu

4

1 reference

1 August 2017

Ping Yu

5

1 reference

1 August 2017

Xiao-Yi Yan

6

1 reference

1 August 2017

Yong-Gang Chen

7

1 reference

1 August 2017

Lu-Hang Zhao

8

1 reference

1 August 2017

Ya-Ping Zhang

9

1 reference

1 August 2017

10 December 2008

1 reference

European Journal of Human Genetics

1 August 2017

1 reference

1 August 2017

17

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1 August 2017

5

1 reference

1 August 2017

604-610

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.240

1 August 2017

0 references

cites work

Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

A series of ENU-induced single-base substitutions in a long-range cis-element altering Sonic hedgehog expression in the developing mouse limb bud.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

Highly conserved non-coding sequences are associated with vertebrate development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

Ultraconserved Elements in the Human Genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

Noncoding sequences conserved in a limited number of mammals in the SIM2 interval are frequently functional

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog ( Shh)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

Comparative genomic analysis as a tool for biological discovery

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

Deciphering skeletal patterning: clues from the limb

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

Sonic hedgehog: restricted expression and limb dysmorphologies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

A novel acropectoral syndrome maps to chromosome 7q36

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

VISTA : visualizing global DNA sequence alignments of arbitrary length

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

Linkage of preaxial polydactyly type 2 to 7q36

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

Phenotypic analysis of triphalangeal thumb and associated hand malformations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

The role of morphogenetic cell death during abnormal limb-bud outgrowth in mice heterozygous for the dominant mutation Hemimelia-extra toe (Hmx)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

Polydactyly: a genetic study in South America

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

The genetics of hand malformations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family.

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.240

Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.240

Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.240

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.240

Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.240

A complex bilateral polysyndactyly disease locus maps to chromosome 7q36

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986254

Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19066618

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2008.240

1 reference

release_dmkhvjgnpffqbawcbzj4n4v54y

1 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/dmkhvjgnpffqbawcbzj4n4v54y

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

2986254

1 reference

1 August 2017

1 reference