(Q24535633)

4 July 2017

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

1 reference

4 July 2017

Silveira Edvaldo Lúcia

object named as

Silveira EL

7

0 references

Mark Joseph Daly

3

object named as

Daly MJ

1 reference

4 July 2017

van Baren MJ

2

1 reference

4 July 2017

Ianakiev P

1

1 reference

4 July 2017

Toledo SP

4

1 reference

4 July 2017

Cavalcanti MG

5

1 reference

4 July 2017

Neto JC

6

1 reference

4 July 2017

Freire-Maia A

8

1 reference

4 July 2017

Heutink P

9

1 reference

4 July 2017

Kilpatrick MW

10

1 reference

4 July 2017

Tsipouras P

11

1 reference

4 July 2017

language of work or name

English

0 references

publication date

22 November 2000

1 reference

American Journal of Human Genetics

4 July 2017

1 reference

4 July 2017

68

1 reference

4 July 2017

38-45

1 reference

4 July 2017

1

1 reference

A minimalist approach to gene mapping: locating the gene for acheiropodia, by homozygosity analysis

4 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234933

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234933

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234933

Parametric and nonparametric linkage analysis: a unified multipoint approach

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234933

Sonic hedgehog mediates the polarizing activity of the ZPA

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234933

Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234933

Further data on acheiropody

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234933

Genetics of acheiropodia (the handless and footless families of Brazil). VII. Population dynamics

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234933

Genetics of acheiropodia (the handless and footless families of Brazil). VI. Formal genetic analysis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234933

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234933

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234933

A complex bilateral polysyndactyly disease locus maps to chromosome 7q36

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234933

Variable expressivity of the acheiropodia gene.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234933

Localization of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping

29 November 2018

1 reference

12 December 2020

A radiological and genetic investigation of acheiropody in a kindred including six cases

1 reference

12 December 2020

Urinary mucopolysaccharides in acheiropodia

1 reference

12 December 2020

Acheiropody. A report of two cases

1 reference

12 December 2020

Acheiropodia: new cases from Brazil

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1086/316955

1 reference

4 July 2017

1 reference

4 July 2017

1 reference