Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies (Q33543362)

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English	Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies	scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

27 July 2017

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies (English)

1 reference

Europe PubMed Central

PubMed publication ID

27 July 2017

9

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Europe PubMed Central

PubMed publication ID

27 July 2017

Matteo Bovolenta

object named as

Matteo Bovolenta

1

0 references

Luciano Merlini

object named as

Luciano Merlini

10

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Patrizia Sabatelli

object named as

Patrizia Sabatelli

5

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author name string

Marcella Neri

2

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Europe PubMed Central

PubMed publication ID

27 July 2017

Elena Martoni

3

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Europe PubMed Central

PubMed publication ID

27 July 2017

Anna Urciuolo

4

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Europe PubMed Central

PubMed publication ID

27 July 2017

Marina Fabris

6

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Europe PubMed Central

PubMed publication ID

27 July 2017

Paolo Grumati

7

1 reference

Europe PubMed Central

PubMed publication ID

27 July 2017

Eugenio Mercuri

8

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Europe PubMed Central

PubMed publication ID

27 July 2017

Paolo Bonaldo

11

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Europe PubMed Central

PubMed publication ID

27 July 2017

Alessandra Ferlini

12

1 reference

Europe PubMed Central

PubMed publication ID

27 July 2017

Francesca Gualandi

13

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Europe PubMed Central

PubMed publication ID

27 July 2017

publication date

19 March 2010

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Europe PubMed Central

PubMed publication ID

27 July 2017

BMC Medical Genetics

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Europe PubMed Central

PubMed publication ID

27 July 2017

11

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Europe PubMed Central

PubMed publication ID

27 July 2017

44

1 reference

Europe PubMed Central

PubMed publication ID

27 July 2017

Autosomal recessive Bethlem myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

21 June 2018

Autosomal recessive inheritance of classic Bethlem myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

21 June 2018

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

21 June 2018

Microarray-based mutation detection in the dystrophin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

21 June 2018

Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

21 June 2018

Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

21 June 2018

Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

21 June 2018

Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

21 June 2018

Comparative genomic hybridization arrays in clinical pathology: progress and challenges

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

21 June 2018

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

21 June 2018

Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

21 June 2018

Collagen VI related muscle disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

21 June 2018

Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

21 June 2018

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

21 June 2018

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

21 June 2018

Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

21 June 2018

Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

21 June 2018

Biglycan and decorin bind close to the n-terminal region of the collagen VI triple helix

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

21 June 2018

Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

21 June 2018

Integrin and Arg-Gly-Asp dependence of cell adhesion to the native and unfolded triple helix of collagen type VI

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

21 June 2018

Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

21 June 2018

Human alpha 2(VI) collagen gene. Heterogeneity at the 5'-untranslated region generated by an alternate exon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

21 June 2018

Binding of the proteoglycan decorin to collagen type VI

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

21 June 2018

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-44

21 January 2018

Fibronectin receptor reduction in skin and fibroblasts of patients with Ullrich's disease

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-44

21 January 2018

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-44

21 January 2018

Three novel collagen VI chains with high homology to the alpha3 chain

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-44

21 January 2018

Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-44

21 January 2018

Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-44

21 January 2018

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-44

21 January 2018

Structural and functional features of the alpha 3 chain indicate a bridging role for chicken collagen VI in connective tissues

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-44

21 January 2018

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-44

21 January 2018

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-44

21 January 2018

Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850895

31 October 2018

https://api.crossref.org/works/10.1186%2F1471-2350-11-44

21 January 2018

Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of ThreeCOL6A2Mutations in Two Families with Ullrich Congenital Muscular Dystrophy

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-44

21 January 2018

Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new families

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-44

21 January 2018

Abnormal expression of proteoglycans in Ullrich's disease with collagen VI deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/20302629

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20302629

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/20302629

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1186/1471-2350-11-44

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Europe PubMed Central

PubMed publication ID

27 July 2017

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https://api.fatcat.wiki/v0/release/s4h2bg3c7nblhmtdxhvzpzzfoi

24 November 2022

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mapped directly with Wikidata item

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

27 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

27 July 2017

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