(Q36065648)

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COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia

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1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15756302%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference

Europe PubMed Central

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15756302%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

multiple epiphyseal dysplasia

1 reference

based on heuristic

inferred from title

1

1 reference

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9 January 2020

William G. Newman

5

1 reference

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9 January 2020

author name string

Gail Jackson

2

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9 January 2020

Simon Ramsden

3

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9 January 2020

Jacky Taylor

4

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9 January 2020

Michael J Wright

6

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9 January 2020

Dian Donnai

7

1 reference

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9 January 2020

Rob Elles

8

1 reference

Europe PubMed Central

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9 January 2020

Michael D Briggs

9

1 reference

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9 January 2020

publication date

1 May 2005

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9 January 2020

European Journal of Human Genetics

1 reference

Europe PubMed Central

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9 January 2020

13

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9 January 2020

547-555

1 reference

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9 January 2020

5

1 reference

Europe PubMed Central

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9 January 2020

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201374

0 references

Missense mutations in the beta strands of the single A-domain of matrilin-3 result 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=2673054

2 October 2017

Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

2 October 2017

A genetic approach to the diagnosis of skeletal dysplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

2 October 2017

Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

2 October 2017

The diagnosis of skeletal dysplasias: a multidisciplinary approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

2 October 2017

A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

2 October 2017

Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

2 October 2017

Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

2 October 2017

Medical complications of achondroplasia: a multicentre patient review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

2 October 2017

A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

2 October 2017

Automated detection of point mutations using fluorescent sequence trace subtraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

2 October 2017

Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

2 October 2017

Characterization of human and mouse 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=2673054

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

2 October 2017

The birth prevalence rates for the skeletal dysplasias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

2 October 2017

International nosology and classification of constitutional disorders of bone (2001).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

11 July 2018

A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

11 July 2018

Birth prevalence of skeletal dysplasias in the Italian Multicentric Monitoring System for Birth Defects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

11 July 2018

Prevalence of lethal osteochondrodysplasias in Denmark.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

11 July 2018

Birth prevalence rates of skeletal dysplasias.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

11 July 2018

Craniocervical decompression for cervicomedullary compression in pediatric patients with achondroplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

11 July 2018

Different types of osteochondrodysplasia in a consecutive series of newborns

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

11 July 2018

Experiences at the time of diagnosis of parents who have a child with a bone dysplasia resulting in short stature.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

23 September 2018

Human Gene Mutation Database (HGMD): 2003 update.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

23 September 2018

Molecular diagnosis is important to confirm suspected pseudoachondroplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

23 September 2018

Some psychosocial aspects of nonlethal chondrodysplasias: II. Depression and anxiety.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

23 September 2018

Sleep-disordered breathing in children with achondroplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2673054

23 September 2018

Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15756302

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Physiological and pathological secretion of cartilage oligomeric matrix protein by cells in culture

1 reference

https://pubmed.ncbi.nlm.nih.gov/15756302

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/15756302

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A locus for an autosomal dominant form of progressive renal failure and hypertension at chromosome 1q21.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201374

7 January 2021

based on heuristic

inferred from DOI database lookup

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.5201374

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201374

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15756302%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15756302%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15756302%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

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