(Q42661003)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7783177%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7783177%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference

Christophe Chevillard

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7783177%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

author name string

C Cudrey

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7783177%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

D Le Paslier

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7783177%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

A Vignal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7783177%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

E Passage

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7783177%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

M Fontes

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7783177%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

language of work or name

English

0 references

publication date

1 March 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7783177%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

25 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7783177%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

volume

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7783177%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7783177%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

page(s)

231-233

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7783177%20AND%20SRC:MED&resulttype=core&format=json

The 1993-94 Généthon human genetic linkage map

25 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050325

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050325

A second-generation linkage map of the human genome

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050325

Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions. snU3 may be a candidate gene for the Smith-Magenis syndrome

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050325

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050325

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

16 August 2018

1 reference

12 December 2020

The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2

1 reference

12 December 2020

Charcot — Marie — Tooth neuropathy type 1A with both duplication and non-duplication

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.3.231

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7783177%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7783177%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference