(Q33309749)

25 July 2017

title

Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences (English)

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25 July 2017

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Sajid Malik

1

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author name string

K M Girisha

2

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25 July 2017

Muhammad Wajid

3

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25 July 2017

Akhilesh K Roy

4

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25 July 2017

Shubha R Phadke

5

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25 July 2017

Sayedul Haque

6

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25 July 2017

Wasim Ahmad

7

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25 July 2017

Manuela C Koch

8

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25 July 2017

Karl-Heinz Grzeschik

9

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25 July 2017

publication date

11 December 2007

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25 July 2017

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25 July 2017

volume

8

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25 July 2017

page(s)

78

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https://scigraph.springernature.com/pub.10.1186/1471-2350-8-78

25 July 2017

exact match

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cites work

Synpolydactyly: clinical and molecular advances

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2222244

Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2222244

Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2222244

Gene-based SNP discovery as part of the Japanese Millennium Genome Project: identification of 190,562 genetic variations in the human genome. Single-nucleotide polymorphism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2222244

The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2222244

Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2222244

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2222244

Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2222244

A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2222244

Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2222244

A molecular pathogenesis for transcription factor associated poly-alanine tract expansions

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-78

Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-78

An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-78

A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-78

A simple method for characterising syndactyly in clinical practice

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2222244

Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2222244

31 October 2018

Identifiers

DOI

10.1186/1471-2350-8-78

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Dimensions Publication ID

25 July 2017

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25 July 2017

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