(Q49059470)

title

Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes. (English)

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18 February 2018

multiple epiphyseal dysplasia

main subject

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author

Geert Mortier

1

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18 February 2018

author name string

Chapman K

2

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18 February 2018

Leroy JL

3

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Briggs MD

4

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18 February 2018

publication date

1 August 2001

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18 February 2018

European Journal of Human Genetics

published in

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18 February 2018

volume

9

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18 February 2018

page(s)

606-612

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18 February 2018

issue

8

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200690

exact match

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cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200690

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200690

7 January 2021

Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200690

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200690

7 January 2021

COL9A3: A third locus for multiple epiphyseal dysplasia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200690

7 January 2021

Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200690

7 January 2021

High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200690

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200690

7 January 2021

Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen (COL9A1)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200690

7 January 2021

Amplification of the COL2A1 3' variable region used for segregation analysis in a family with the Stickler syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200690

7 January 2021

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200690

7 January 2021

Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200690

7 January 2021

Cartilage oligomeric matrix protein interacts with type IX collagen, and disruptions to these interactions identify a pathogenetic mechanism in a bone dysplasia family.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200690

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200690

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18 February 2018

1 reference

18 February 2018