(Q22009971)

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Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10364514%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10364514%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

Collagen type IX alpha 2 chain

1 reference

GOA release 2020-03-11

skeletal system development

1 reference

GOA release 2020-03-11

multiple epiphyseal dysplasia

1 reference

based on heuristic

inferred from title

3

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G R Mortier

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G R

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Mortier

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Europe PubMed Central

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8 December 2019

8

object named as

J A Loughlin

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J A

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Loughlin

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8 December 2019

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P Holden

1

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P

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Holden

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8 December 2019

E G Canty

2

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E G

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Canty

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8 December 2019

B Zabel

4

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Zabel

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Europe PubMed Central

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8 December 2019

J Spranger

5

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J

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Spranger

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Europe PubMed Central

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8 December 2019

A Carr

6

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A

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Carr

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Europe PubMed Central

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8 December 2019

M E Grant

7

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M E

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Grant

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8 December 2019

M D Briggs

9

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M D

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Briggs

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8 December 2019

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publication date

1 July 1999

1 reference

Europe PubMed Central

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8 December 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

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8 December 2019

65

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8 December 2019

1

1 reference

Europe PubMed Central

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8 December 2019

31-38

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10364514%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378072

19 March 2017

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378072

19 March 2017

Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378072

19 March 2017

Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378072

19 March 2017

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378072

19 March 2017

Structure of the glycosaminoglycan domain in the type IX collagen-proteoglycan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378072

19 March 2017

The alpha 1 (IX) collagen gene gives rise to two different transcripts in both mouse embryonic and human fetal RNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378072

19 March 2017

G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378072

19 March 2017

Molecular cloning of the alpha 3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378072

19 March 2017

Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378072

19 March 2017

Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378072

19 March 2017

A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378072

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378072

19 March 2017

Genetic heterogeneity in multiple epiphyseal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378072

12 September 2017

An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378072

12 September 2017

Heterozygous mutation in the G+5 position of intron 33 of the pro-alpha 2(I) gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis imperfecta. Use of carbodiimide methods that decrease the extent of DNA sequencing necessary to defi

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378072

12 September 2017

A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing th

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378072

30 May 2018

An intron mutation in the human alpha 1(I) collagen gene alters the efficiency of pre-mRNA splicing and is associated with osteogenesis imperfecta type II.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378072

30 May 2018

A large family with multiple epiphyseal dysplasia linked to COL9A2 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378072

29 November 2018

Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/10364514

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Electron microscopical study in multiple epiphyseal dysplasia type II

1 reference

https://pubmed.ncbi.nlm.nih.gov/10364514

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10364514

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysplasia epiphysialis multiplex; a report of fourteen cases in three families

1 reference

https://pubmed.ncbi.nlm.nih.gov/10364514

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/10364514

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysplasia epiphysialis multiplex in three sisters

1 reference

https://pubmed.ncbi.nlm.nih.gov/10364514

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple epiphysial dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10364514

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple epiphysial dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10364514

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ehlers-Danlos Syndrome Type IV: A Single Base Substitution of the Last Nucleotide of Exon 34 in COL3A1 Leads to Exon Skipping

1 reference

https://pubmed.ncbi.nlm.nih.gov/10364514

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysplasia epiphysialis multiplex

1 reference

https://api.crossref.org/works/10.1086%2F302440

7 January 2021

based on heuristic

inferred from DOI database lookup

SOME AFFECTIONS OF EPIPHYSES.

1 reference

https://api.crossref.org/works/10.1086%2F302440

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10364514%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10364514%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10364514%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

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