(Q80965799)

English

Detection of germline mosaicism in two Duchenne muscular dystrophy families using polymorphic dinucleotide (CA)n repeat loci within the dystrophin gene

scientific article published on 01 January 2004

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15527326%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Detection of germline mosaicism in two Duchenne muscular dystrophy families using polymorphic dinucleotide (CA)n repeat loci within the dystrophin gene (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15527326%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Duchenne muscular dystrophy

1 reference

based on heuristic

inferred from title

author name string

Verónica Ferreiro

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15527326%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Irene Szijan

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15527326%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Florencia Giliberto

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15527326%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

publication date

1 January 2004

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15527326%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Molecular Diagnosis and Therapy

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15527326%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

8

1 reference

Europe PubMed Central

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4 January 2020

115-121

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15527326%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15527326%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

https://scigraph.springernature.com/pub.10.1007/bf03260054

0 references

Analysis of dinucleotide repeat loci of dystrophin gene for carrier detection, germline mosaicism and de novo mutations in Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An informative polymorphism detectable by polymerase chain reaction at the 3' end of the dystrophin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Usefulness of a CACA repeat polymorphism in genotype assignments in Duchenne/Becker muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The population genetics of Duchenne: natural and artificial selection in Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A polymorphic CACA repeat in the 3' untranslated region of dystrophin.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid isolation of high molecular weight plant DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/15527326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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