(Q35196093)

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Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk

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Europe PubMed Central

PubMed publication ID

7 August 2017

Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk (English)

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Europe PubMed Central

PubMed publication ID

7 August 2017

Duchenne muscular dystrophy

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7

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Zatz M

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7 August 2017

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Passos-Bueno MR

1

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Europe PubMed Central

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7 August 2017

Bakker E

2

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Europe PubMed Central

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7 August 2017

Kneppers AL

3

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Europe PubMed Central

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7 August 2017

Takata RI

4

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Europe PubMed Central

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7 August 2017

Rapaport D

5

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7 August 2017

den Dunnen JT

6

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7 August 2017

van Ommen GJ

8

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7 August 2017

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publication date

1 November 1992

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7 August 2017

American Journal of Human Genetics

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7 August 2017

51

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7 August 2017

5

1 reference

Europe PubMed Central

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7 August 2017

1150-1155

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682835

13 July 2018

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682835

13 July 2018

Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682835

13 July 2018

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682835

13 July 2018

Familial inheritance of a DXS164 deletion mutation from a heterozygous female

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682835

13 July 2018

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682835

13 July 2018

Familiarity, recessivity and germline mosaicism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682835

13 July 2018

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682835

13 July 2018

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682835

13 July 2018

Evidence for kinks in DNA folding in the nucleosome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682835

13 July 2018

Estimate of germinal mosaicism in Duchenne muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682835

13 July 2018

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682835

13 July 2018

Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682835

13 July 2018

Somatic mosaicism at the Duchenne locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682835

13 July 2018

Somatic origin of inherited haemophilia A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682835

13 July 2018

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682835

13 July 2018

Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/1415256

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Preferential deletion of exons in Duchenne and Becker muscular dystrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/1415256

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/1415256

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A deletion hot spot in the Duchenne muscular dystrophy gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1415256

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duchenne muscular dystrophy: high frequency of deletions

1 reference

https://pubmed.ncbi.nlm.nih.gov/1415256

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Germinal mosaicism in Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/1415256

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

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