(Q34507321)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532400%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

case report

0 references

title

GDF5 is a second locus for multiple-synostosis syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532400%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532400%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

author name string

Katherine Dawson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532400%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Petra Seeman

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532400%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Eiman Sebald

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532400%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Lily King

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532400%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

John Williams

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532400%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Stephan Mundlos

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532400%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Deborah Krakow

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532400%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

language of work or name

English

0 references

publication date

24 February 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532400%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

17 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532400%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

78

1 reference

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17 January 2020

issue

4

1 reference

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17 January 2020

page(s)

708-712

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532400%20AND%20SRC:MED&resulttype=core&format=json

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

17 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424701

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424701

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424701

Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424701

Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424701

Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424701

Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424701

Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424701

GDF5 coordinates bone and joint formation during digit development

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424701

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424701

Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424701

Noggin-mediated antagonism of BMP signaling is required for growth and patterning of the neural tube and somite

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424701

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424701

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424701

The Spemann organizer signal noggin binds and inactivates bone morphogenetic protein 4

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424701

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424701

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424701

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424701

Cloning of integral mature peptide gene of human GDF-5.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424701

Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424701

The mutational spectrum of brachydactyly type C

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424701

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

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16532400

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16532400

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/503204

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532400%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16532400%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference