(Q33593605)

English

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

scientific article published on January 1, 1992

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scholarly article

1 reference

Europe PubMed Central

28 July 2017

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

1 reference

Europe PubMed Central

28 July 2017

4

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W. Van Hul

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8 October 2022

Christine Van Broeckhoven

7

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C. Van Broeckhoven

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8 October 2022

author name string

P. Raeymaekers

1

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8 October 2022

V. Timmerman

2

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8 October 2022

E. Nelis

3

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8 October 2022

P. De Jonghe

5

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8 October 2022

J. J. Martin

6

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8 October 2022

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publication date

1 January 1992

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Europe PubMed Central

28 July 2017

full work available at URL

https://europepmc.org/articles/PMC1015812

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Europe PubMed Central

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Europe PubMed Central

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8 October 2022

https://europepmc.org/articles/PMC1015812?pdf=render

Portable Document Format

online access status

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Europe PubMed Central

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Europe PubMed Central

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8 October 2022

Journal of Medical Genetics

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28 July 2017

29

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28 July 2017

5-11

1 reference

Europe PubMed Central

28 July 2017

1

1 reference

Europe PubMed Central

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=1015812

21 June 2018

Alpha 1-antitrypsin: apparent molecular weight heterogeneity shown by two-dimensional electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015812

21 June 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=1015812

21 June 2018

Genomic sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015812

21 June 2018

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015812

21 June 2018

Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015812

21 June 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=1015812

21 June 2018

Multipoint linkage analysis in neurofibromatosis type I: an international collaboration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015812

21 June 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=1015812

21 June 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=1015812

21 June 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=1015812

21 June 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=1015812

21 June 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=1015812

21 June 2018

A rapid alkaline extraction procedure for screening recombinant plasmid DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015812

21 June 2018

A simple method for subcloning DNA fragments from gel slices

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015812

30 October 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=1015812

30 October 2018

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/1552545

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/1552545

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Absence of linkage with the Duffy blood group in a family with Charcot-Marie-Tooth neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/1552545

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1552545

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/1552545

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/1552545

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of hereditary motor and sensory neuropathy in Cantabria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1552545

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary motor and sensory neuropathies in Swedish children. I. Prevalence and distribution by disability groups

1 reference

https://pubmed.ncbi.nlm.nih.gov/1552545

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/1552545

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.29.1.5

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

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