Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability (Q36148136)

12 August 2017

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability (English)

1 reference

12 August 2017

10

1 reference

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1 June 2020

Pascale Richard

16

1 reference

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1 June 2020

author name string

Sandra Donkervoort

1

1 reference

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1 June 2020

Ying Hu

2

1 reference

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1 June 2020

Tanya Stojkovic

3

1 reference

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1 June 2020

Nicol C Voermans

4

1 reference

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1 June 2020

A Reghan Foley

5

1 reference

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1 June 2020

Meganne E Leach

6

1 reference

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1 June 2020

Jahannaz Dastgir

7

1 reference

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1 June 2020

Véronique Bolduc

8

1 reference

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1 June 2020

Thomas Cullup

9

1 reference

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1 June 2020

Lin Yang

11

1 reference

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1 June 2020

Hai Su

12

1 reference

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1 June 2020

Katherine Meilleur

13

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1 June 2020

Alice B Schindler

14

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1 June 2020

Erik-Jan Kamsteeg

15

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1 June 2020

Russell J Butterfield

17

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1 June 2020

Thomas L Winder

18

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1 June 2020

Thomas O Crawford

19

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1 June 2020

Robert B Weiss

20

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1 June 2020

Francesco Muntoni

21

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1 June 2020

Valérie Allamand

22

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1 June 2020

Carsten G Bönnemann

23

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1 June 2020

publication date

1 January 2015

1 reference

12 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25204870%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

36

1 reference

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1 June 2020

issue

1

1 reference

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1 June 2020

page(s)

48-56

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siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy

1 June 2020

cites work

1 reference

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Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601573

Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601573

Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601573

The collagen VI-related myopathies: muscle meets its matrix

2 October 2017

1 reference

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Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601573

Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.

2 October 2017

1 reference

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Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601573

Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.

2 October 2017

1 reference

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Inheritance of CMT1A duplication from a mosaic father

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601573

Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601573

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601573

Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601573

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

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601573

Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4601573

A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B.

23 September 2018

1 reference

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Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy

23 September 2018

1 reference

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Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22691

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22691

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22691

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22691

Somatic mosaicism for Duchenne dystrophy: evidence for genetic normalization mitigating muscle symptoms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22691

Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25204870

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Muscle ultrasound in Bethlem myopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25204870

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25204870

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22691

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25204870%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25204870%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

PubMed publication ID

25204870

1 reference