Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene (Q35440367)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12205105%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene (English)

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12 November 2019

1

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12 November 2019

Katy Wolstencroft

3

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12 November 2019

author name string

P Roby

2

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12 November 2019

K Spreckley

4

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12 November 2019

R Aspinwall

5

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12 November 2019

R Bayoumi

6

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12 November 2019

L Al-Gazali

7

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12 November 2019

R Ramesar

8

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12 November 2019

P Beighton

9

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12 November 2019

G Wallis

10

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12 November 2019

language of work or name

English

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publication date

1 September 2002

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Journal of Medical Genetics

12 November 2019

published in

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12 November 2019

volume

39

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12 November 2019

issue

9

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12 November 2019

page(s)

634-638

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Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26.

12 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735219

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735219

Electronic PCR: bridging the gap between genome mapping and genome sequencing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735219

Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735219

Allele-sharing models: LOD scores and accurate linkage tests

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735219

Database divisions and homology search files: a guide for the perplexed

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735219

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735219

Dwarfism and age-associated spinal degeneration of heterozygote cmd mice defective in aggrecan

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735219

A human-specific polymorphism in the coding region of the aggrecan gene. Variable number of tandem repeats produce a range of core protein sizes in the general population

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735219

Sequence mapping by electronic PCR

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735219

Prediction of complete gene structures in human genomic DNA

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735219

Parametric and nonparametric linkage analysis: a unified multipoint approach

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735219

cDNA cloning of chick cartilage chondroitin sulfate (aggrecan) core protein and identification of a stop codon in the aggrecan gene associated with the chondrodystrophy, nanomelia.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735219

Structure of the human aggrecan gene: exon-intron organization and association with the protein domains

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735219

Strategies for multilocus linkage analysis in humans

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735219

Proteoglycans: many forms and many functions

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735219

SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735219

Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint maps to an 11-cM region on chromosome 4q35.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735219

Mouse cartilage matrix deficiency (cmd) caused by a 7 bp deletion in the aggrecan gene

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735219

Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735219

15 November 2018

Identifiers

DOI

10.1136/JMG.39.9.634

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12205105%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference

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12 November 2019

PubMed publication ID

12205105

1 reference