(Q33387662)

English

A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

object named as

Sulman Basit

1

0 references

6

object named as

Wasim Ahmad

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

author name string

Syed Kamran-ul-Hassan Naqvi

2

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Naveed Wasif

3

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Ghazanfar Ali

4

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Muhammad Ansar

5

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

publication date

27 November 2008

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

BMC Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

102

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

https://scigraph.springernature.com/pub.10.1186/1471-2350-9-102

0 references

GDF5 is a second locus for multiple-synostosis syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2611973

21 June 2018

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2611973

21 June 2018

Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2611973

21 June 2018

Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2611973

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2611973

21 June 2018

Intracellular BMP signaling regulation in vertebrates: pathway or network?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2611973

21 June 2018

The mode of bone morphogenetic protein (BMP) receptor oligomerization determines different BMP-2 signaling pathways.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2611973

21 June 2018

Bone morphogenetic protein receptor complexes on the surface of live cells: a new oligomerization mode for serine/threonine kinase receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2611973

21 June 2018

GDF5 coordinates bone and joint formation during digit development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2611973

21 June 2018

Mechanisms of GDF-5 action during skeletal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2611973

21 June 2018

Cartilage-derived morphogenetic protein-1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2611973

21 June 2018

Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2611973

21 June 2018

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2611973

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2611973

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2611973

21 June 2018

Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2611973

21 June 2018

Brachydactyly type A2 associated with a defect in proGDF5 processing

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-102

21 January 2018

Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-102

21 January 2018

Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-102

21 January 2018

Grebe dysplasia and the spectrum of CDMP1 mutations.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-102

21 January 2018

Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-102

21 January 2018

A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-102

21 January 2018

The mutational spectrum of brachydactyly type C

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-102

21 January 2018

An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage

1 reference

https://pubmed.ncbi.nlm.nih.gov/19038017

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism

1 reference

https://pubmed.ncbi.nlm.nih.gov/19038017

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1471-2350-9-102

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

ResearchGate publication ID

0 references

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