Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group (Q33594681)

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scientific article published on November 1, 1992

Language	Label	Description	Also known as
English	Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group	scientific article published on November 1, 1992

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

human chromosome 17

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1453432

28 September 2022

multigene family

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1453432

28 September 2022

7

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Agid Y

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28 July 2017

1

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A. Brice

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1453432

28 September 2022

Giovanni Stevanin

3

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G. Stevanin

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1453432

28 September 2022

author name string

Ravisé N

2

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28 July 2017

N. Ravisé

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1453432

28 September 2022

M. Gugenheim

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1453432

28 September 2022

P. Bouche

5

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1453432

28 September 2022

C. Penet

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1453432

28 September 2022

language of work or name

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publication date

1 November 1992

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28 July 2017

full work available at URL

https://europepmc.org/articles/PMC1016177

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Europe PubMed Central

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1453432

28 September 2022

https://europepmc.org/articles/PMC1016177?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1453432

28 September 2022

Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

28 July 2017

29

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Europe PubMed Central

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28 July 2017

11

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

807-812

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Genetic aspects of hereditary motor and sensory neuropathy (types I and II)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016177

14 July 2018

Linkage of autosomal dominant type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016177

14 July 2018

Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016177

14 July 2018

Easy calculations of lod scores and genetic risks on small computers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016177

14 July 2018

Genomic sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016177

14 July 2018

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016177

14 July 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016177

14 July 2018

Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016177

14 July 2018

Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016177

14 July 2018

Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016177

14 July 2018

Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016177

14 July 2018

Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016177

14 July 2018

Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016177

14 July 2018

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016177

14 July 2018

Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016177

30 October 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1453432

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic epidemiology of hereditary motor sensory neuropathies (type I)

1 reference

https://pubmed.ncbi.nlm.nih.gov/1453432

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of a locus for Charcot-Marie-Tooth neuropathy type Ia (CMT1A) to chromosome 17

1 reference

https://pubmed.ncbi.nlm.nih.gov/1453432

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

1 reference

https://pubmed.ncbi.nlm.nih.gov/1453432

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1453432

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1453432

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single-gene neurological disorders in South Wales: an epidemiological study

1 reference

https://pubmed.ncbi.nlm.nih.gov/1453432

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Penetrance of the hereditary motor and sensory neuropathy Ia mutation: assessment by nerve conduction studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/1453432

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A genetic map of human chromosome 17p

1 reference

https://pubmed.ncbi.nlm.nih.gov/1453432

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17

1 reference

https://pubmed.ncbi.nlm.nih.gov/1453432

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A routine method for the establishment of permanent growing lymphoblastoid cell lines

1 reference

https://pubmed.ncbi.nlm.nih.gov/1453432

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage evidence for genetic heterogeneity among kinships with hereditary motor and sensory neuropathy, type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/1453432

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The clinical features of hereditary motor and sensory neuropathy types I and II

1 reference

https://pubmed.ncbi.nlm.nih.gov/1453432

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.29.11.807

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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