(Q73046598)

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

scientific article published on 01 April 2003

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12605439%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

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

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12605439%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

author name string

Nicole Ravisé

1

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31 October 2019

Odile Dubourg

2

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31 October 2019

Sandrine Tardieu

3

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31 October 2019

Françoise Aurias

4

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31 October 2019

Monique Mercadiel

5

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31 October 2019

Philippe Coullin

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31 October 2019

Merle Ruberg

7

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31 October 2019

Martin Catala

8

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31 October 2019

Sylvie Lesourd

9

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31 October 2019

Alexis Brice

10

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31 October 2019

Eric LeGuern

11

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31 October 2019

publication date

1 April 2003

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31 October 2019

American Journal of Medical Genetics

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31 October 2019

118A

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31 October 2019

1

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31 October 2019

43-48

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31 October 2019

describes a project that uses

fluorescence in situ hybridization

1 reference

based on heuristic

inferred from title

Hereditary neuropathy with liability to pressure palsies. Electrophysiological and histopathological aspects.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

Generation of novel sequence tagged sites (STSs) from discrete chromosomal regions using Alu-PCR.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

Simultaneous fluorescence in-situ hybridization (FISH) an R-banding by primed in-situ labelling (PRINS)

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

Assignment of microsatellite sequences to the region duplicated in CMT1A (17p12): a useful tool for diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

A common molecular basis for rearrangement disorders on chromosome 22q11

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP)

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

Molecular diagnosis of PMP22-associated neuropathies using fluorescence in situ hybridization (FISH) on archival peripheral nerve tissue preparations

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

Homologous DNA Exchanges in Humans Can Be Explained by the Yeast Double-Strand Break Repair Model: A Study of 17p11.2 Rearrangements Associated with CMT1A and HNPP

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

Rapid fluorescence in situ hybridization on interphasic nuclei to discriminate between homozygous and heterozygous transgenic mice

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

Use of the primed in situ labelling (PRINS) technique for a rapid detection of chromosomes 13, 16, 18, 21, X and Y

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

Classification of the hereditary motor and sensory neuropathies

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.10190

21 January 2018

Identifiers

10.1002/AJMG.A.10190

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12605439%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12605439%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

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