MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. (Q54684739)

From Wikidata

Jump to navigation Jump to search

scientific article published on 18 January 2005

edit

Language	Label	Description	Also known as
English	MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls.	scientific article published on 18 January 2005

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15655674

retrieved

2 June 2018

reference URL

http://europepmc.org/abstract/MED/15655674

title

MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15655674

retrieved

2 June 2018

reference URL

http://europepmc.org/abstract/MED/15655674

author name string

B Janssen

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15655674

retrieved

2 June 2018

reference URL

http://europepmc.org/abstract/MED/15655674

C Hartmann

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15655674

retrieved

2 June 2018

reference URL

http://europepmc.org/abstract/MED/15655674

V Scholz

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15655674

retrieved

2 June 2018

reference URL

http://europepmc.org/abstract/MED/15655674

A Jauch

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15655674

retrieved

2 June 2018

reference URL

http://europepmc.org/abstract/MED/15655674

J Zschocke

series ordinal

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15655674

retrieved

2 June 2018

reference URL

http://europepmc.org/abstract/MED/15655674

publication date

18 January 2005

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15655674

retrieved

2 June 2018

reference URL

http://europepmc.org/abstract/MED/15655674

published in

Neurogenetics

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15655674

retrieved

2 June 2018

reference URL

http://europepmc.org/abstract/MED/15655674

volume

6

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15655674

retrieved

2 June 2018

reference URL

http://europepmc.org/abstract/MED/15655674

issue

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15655674

retrieved

2 June 2018

reference URL

http://europepmc.org/abstract/MED/15655674

page(s)

29-35

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15655674

retrieved

2 June 2018

reference URL

http://europepmc.org/abstract/MED/15655674

cites work

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15655674

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Measurement of locus copy number by hybridisation with amplifiable probes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15655674

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15655674

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15655674

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15655674

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two distinct mutations in a single dystrophin gene: chance occurrence or premutation?

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15655674

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Restoration of half the normal dystrophin sequence in a double-deletion Duchenne muscular dystrophy family

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15655674

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15655674

retrieved

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15655674

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15655674

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15655674

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited deletion at Duchenne dystrophy locus in normal male

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15655674

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15655674

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The milder phenotype of the dystrophin gene double deletions.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15655674

retrieved

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15655674

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S10048-004-0204-1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15655674

retrieved

2 June 2018

reference URL

http://europepmc.org/abstract/MED/15655674

PubMed publication ID

15655674

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15655674

retrieved

2 June 2018

reference URL

http://europepmc.org/abstract/MED/15655674

 

Sitelinks

Wikipedia(0 entries)

edit

Wikibooks(0 entries)

edit

Wikinews(0 entries)

edit

Wikiquote(0 entries)

edit

Wikisource(0 entries)

edit

Wikiversity(0 entries)

edit

Wikivoyage(0 entries)

edit

Wiktionary(0 entries)

edit

Multilingual sites(0 entries)

edit

Retrieved from "https://www.wikidata.org/w/index.php?title=Q54684739&oldid=2212561061"