(Q81668458)

English

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)

scientific article published on 20 April 2005

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15841391%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA) (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15841391%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Valentina Gatta

1

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11 January 2020

Liborio Stuppia

10

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11 January 2020

Antonino Uncini

9

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Antonino Uncini

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11 January 2020

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Oronzo Scarciolla

2

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11 January 2020

Anna Rita Gaspari

3

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11 January 2020

Chiara Palka

4

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11 January 2020

Maria Vittoria De Angelis

5

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11 January 2020

Antonio Di Muzio

6

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11 January 2020

Paolo Guanciali-Franchi

7

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11 January 2020

Giuseppe Calabrese

8

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11 January 2020

publication date

20 April 2005

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11 January 2020

1 reference

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11 January 2020

117

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11 January 2020

1

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11 January 2020

92-98

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11 January 2020

https://scigraph.springernature.com/pub.10.1007/s00439-005-1270-7

0 references

Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients

1 reference

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

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Prenatal diagnosis and detection of carriers with DNA probes in Duchenne's muscular dystrophy

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

1 reference

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Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method

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Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

1 reference

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Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach

1 reference

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Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR.

1 reference

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

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Diagnosis of Duchenne/Becker muscular dystrophy and quantitative identification of carrier status by use of entangled solution capillary electrophoresis.

1 reference

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Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques

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

1 reference

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12 December 2020

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Combined use of PRINS and FISH in the study of the dystrophin gene

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Determination of carrier status in Duchenne and Becker muscular dystrophies by quantitative polymerase chain reaction and allele-specific oligonucleotides

1 reference

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12 December 2020

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DMD-specific FISH probes are diagnostically useful in the detection of female carriers of DMD gene deletions

1 reference

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12 December 2020

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Dystrophin and mutations: one gene, several proteins, multiple phenotypes

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Point mutations in the dystrophin gene

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Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families

1 reference

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Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization

1 reference

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12 December 2020

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Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation

1 reference

https://pubmed.ncbi.nlm.nih.gov/15841391

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Dystrophin. The gene and its product

1 reference

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Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.

1 reference

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Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies

1 reference

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Report on the 16th ENMC workshop--carrier diagnosis of Duchenne and Becker muscular dystrophy

1 reference

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MLPA and MAPH: new techniques for detection of gene deletions

1 reference

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15841391

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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