(Q36927237)

17 August 2017

A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. (English)

1 reference

17 August 2017

Kjaer KW

1

1 reference

17 August 2017

Eiberg H

2

1 reference

17 August 2017

Hansen L

3

1 reference

17 August 2017

van der Hagen CB

4

1 reference

17 August 2017

Rosendahl K

5

1 reference

17 August 2017

Tommerup N

6

1 reference

17 August 2017

Mundlos S

7

1 reference

17 August 2017

language of work or name

English

0 references

publication date

13 July 2005

1 reference

Journal of Medical Genetics

17 August 2017

1 reference

17 August 2017

43

1 reference

17 August 2017

3

1 reference

17 August 2017

225-231

1 reference

Crystal structure of recombinant human growth and differentiation factor 5: evidence for interaction of the type I and type II receptor-binding sites

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563247

Molecular recognition of BMP-2 and BMP receptor IA

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563247

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563247

Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563247

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563247

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563247

Identification of type I and type II serine/threonine kinase receptors for growth/differentiation factor-5

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563247

A human chondrodysplasia due to a mutation in a TGF-beta superfamily member

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563247

Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563247

Metacarpophalangeal Length in the Evaluation of Skeletal Malformation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563247

A computer program for linkage analysis of general human pedigrees

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563247

Avoiding recomputation in linkage analysis.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563247

The mutational spectrum of brachydactyly type C

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563247

Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16014698

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Fibular hypoplasia and complex brachydactyly (Du Pan syndrome) in an inbred Pakistani kindred

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16014698

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2005.034058

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

16014698

1 reference