(Q33680352)

English

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

congenital disorder

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congenital muscular dystrophy

1 reference

based on heuristic

inferred from title

author name string

Guicheney P

1

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28 July 2017

Vignier N

2

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28 July 2017

Zhang X

3

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28 July 2017

He Y

4

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28 July 2017

Cruaud C

5

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28 July 2017

Frey V

6

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28 July 2017

Helbling-Leclerc A

7

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28 July 2017

Richard P

8

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28 July 2017

Estournet B

9

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28 July 2017

Merlini L

10

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28 July 2017

Topaloglu H

11

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28 July 2017

Mora M

12

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28 July 2017

Harpey JP

13

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28 July 2017

Haenggeli CA

14

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28 July 2017

Barois A

15

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28 July 2017

Hainque B

16

1 reference

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28 July 2017

Schwartz K

17

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28 July 2017

Tomé FM

18

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28 July 2017

Fardeau M

19

1 reference

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28 July 2017

Tryggvason K

20

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28 July 2017

language of work or name

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publication date

1 March 1998

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28 July 2017

Journal of Medical Genetics

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28 July 2017

35

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28 July 2017

3

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28 July 2017

211-217

1 reference

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28 July 2017

Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051244

14 July 2018

Merosin positive congenital muscular dystrophy with mental deficiency, epilepsy and MRI changes in the cerebral white matter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051244

14 July 2018

Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051244

14 July 2018

Merosin/laminin-2 and muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051244

14 July 2018

Structure of the human laminin alpha2-chain gene (LAMA2), which is affected in congenital muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051244

14 July 2018

Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051244

14 July 2018

Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051244

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051244

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051244

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051244

14 July 2018

Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient congenital muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051244

30 October 2018

Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051244

30 October 2018

Congenital muscular dystrophy with merosin deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051244

10 December 2018

Protein truncation test (PTT) for rapid detection of translation-terminating mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/9541105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9541105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/9541105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9541105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9541105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9541105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Basement membrane abnormality in merosin-negative congenital muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9541105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9541105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis]

1 reference

https://pubmed.ncbi.nlm.nih.gov/9541105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficiency of merosin (laminin M or alpha 2) in congenital muscular dystrophy associated with cerebral white matter alterations

1 reference

https://pubmed.ncbi.nlm.nih.gov/9541105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

41st ENMC International Workshop on Congenital Muscular Dystrophy 8-10 March 1996, Naarden, The Netherlands

1 reference

https://pubmed.ncbi.nlm.nih.gov/9541105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities

1 reference

https://pubmed.ncbi.nlm.nih.gov/9541105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9541105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A benign allelic form of laminin alpha 2 chain deficient muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/9541105

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.35.3.211

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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