(Q47228605)

English

Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method

scientific article published in August 2004

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scholarly article

1 reference

Europe PubMed Central

12 January 2018

http://europepmc.org/abstract/MED/15241798

Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method (English)

1 reference

Europe PubMed Central

12 January 2018

http://europepmc.org/abstract/MED/15241798

author name string

Howard Slater

1

1 reference

Europe PubMed Central

12 January 2018

http://europepmc.org/abstract/MED/15241798

Damien Bruno

2

1 reference

Europe PubMed Central

12 January 2018

http://europepmc.org/abstract/MED/15241798

Hua Ren

3

1 reference

Europe PubMed Central

12 January 2018

http://europepmc.org/abstract/MED/15241798

Phung La

4

1 reference

Europe PubMed Central

12 January 2018

http://europepmc.org/abstract/MED/15241798

Trent Burgess

5

1 reference

Europe PubMed Central

12 January 2018

http://europepmc.org/abstract/MED/15241798

Louise Hills

6

1 reference

Europe PubMed Central

12 January 2018

http://europepmc.org/abstract/MED/15241798

Sara Nouri

7

1 reference

Europe PubMed Central

12 January 2018

http://europepmc.org/abstract/MED/15241798

Jan Schouten

8

1 reference

Europe PubMed Central

12 January 2018

http://europepmc.org/abstract/MED/15241798

K H Andy Choo

9

1 reference

Europe PubMed Central

12 January 2018

http://europepmc.org/abstract/MED/15241798

publication date

1 August 2004

1 reference

Europe PubMed Central

12 January 2018

http://europepmc.org/abstract/MED/15241798

1 reference

Europe PubMed Central

12 January 2018

http://europepmc.org/abstract/MED/15241798

24

1 reference

Europe PubMed Central

12 January 2018

http://europepmc.org/abstract/MED/15241798

2

1 reference

Europe PubMed Central

12 January 2018

http://europepmc.org/abstract/MED/15241798

164-171

1 reference

Europe PubMed Central

12 January 2018

http://europepmc.org/abstract/MED/15241798

Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liabilit

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20072

7 January 2021

based on heuristic

inferred from DOI database lookup

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20072

7 January 2021

based on heuristic

inferred from DOI database lookup

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20072

7 January 2021

based on heuristic

inferred from DOI database lookup

Charcot-Marie-Tooth disease and sleep apnoea syndrome: a family study.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20072

7 January 2021

based on heuristic

inferred from DOI database lookup

Polymorphisms in the PMP-22 gene region (17p11.2-12) are crucial for simplified diagnosis of duplications/deletions.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20072

7 January 2021

based on heuristic

inferred from DOI database lookup

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20072

7 January 2021

based on heuristic

inferred from DOI database lookup

A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20072

7 January 2021

based on heuristic

inferred from DOI database lookup

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20072

7 January 2021

based on heuristic

inferred from DOI database lookup

Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20072

7 January 2021

based on heuristic

inferred from DOI database lookup

Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life-threatening vincristine neurotoxicity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20072

7 January 2021

based on heuristic

inferred from DOI database lookup

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20072

7 January 2021

based on heuristic

inferred from DOI database lookup

Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): a prospective study of 130 patients with inherited peripheral neuropathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20072

7 January 2021

based on heuristic

inferred from DOI database lookup

Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20072

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20072

7 January 2021

based on heuristic

inferred from DOI database lookup

Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20072

7 January 2021

based on heuristic

inferred from DOI database lookup

Inheritance of CMT1A duplication from a mosaic father

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20072

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20072

7 January 2021

based on heuristic

inferred from DOI database lookup

Clustering of CMT1A duplication breakpoints in a 700 bp interval of the CMT1A-REP repeat

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20072

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20072

1 reference

Europe PubMed Central

12 January 2018

http://europepmc.org/abstract/MED/15241798

1 reference

Europe PubMed Central

12 January 2018

http://europepmc.org/abstract/MED/15241798

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