(Q33678375)

28 July 2017

title

Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy (English)

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congenital muscular dystrophy

28 July 2017

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Naom IS

1

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28 July 2017

D'Alessandro M

2

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28 July 2017

Topaloglu H

3

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28 July 2017

Sewry C

4

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28 July 2017

Ferlini A

5

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28 July 2017

Helbling-Leclerc A

6

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Guicheney P

7

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28 July 2017

Weissenbach J

8

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28 July 2017

Schwartz K

9

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Bushby K

10

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28 July 2017

Philpot J

11

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28 July 2017

Dubowitz V

12

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28 July 2017

Muntoni F

13

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28 July 2017

language of work or name

English

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publication date

1 February 1997

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

34

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28 July 2017

issue

2

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28 July 2017

page(s)

99-104

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050860

Human laminin M chain (merosin): complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050860

A new nomenclature for the laminins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050860

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050860

The 1993-94 Généthon human genetic linkage map

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050860

Congenital muscular dystrophy and cerebral CT scan anomalies. Results of a collaborative study of the Société de Neurologie Infantile

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050860

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050860

Occidental type cerebromuscular dystrophy: a report of eleven cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050860

Congenital muscular dystrophy with merosin deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050860

Proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy. 22-24 April 1994, The Netherlands

10 December 2018

1 reference

12 December 2020

Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2

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12 December 2020

An efficient salt-chloroform extraction of DNA from blood and tissues

1 reference

12 December 2020

22nd ENMC sponsored workshop on congenital muscular dystrophy held in Baarn, The Netherlands, 14-16 May 1993

1 reference

12 December 2020

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping

1 reference

12 December 2020

Prenatal diagnosis in congenital muscular dystrophy

1 reference

12 December 2020

Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status

1 reference

12 December 2020

Familial concordance of brain magnetic resonance imaging changes in congenital muscular dystrophy

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12 December 2020

Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal

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12 December 2020

Expression of laminin subunits in congenital muscular dystrophy

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12 December 2020

Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy

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12 December 2020

Identifiers

DOI

10.1136/JMG.34.2.99

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28 July 2017

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28 July 2017

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