(Q41641293)

6 October 2017

Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families (English)

1 reference

6 October 2017

0 references

E Bellone

1

1 reference

6 October 2017

P Mandich

2

1 reference

6 October 2017

G L Mancardi

3

1 reference

6 October 2017

A Schenone

4

1 reference

6 October 2017

A Uccelli

5

1 reference

6 October 2017

M Abbruzzese

6

1 reference

6 October 2017

A Sghirlanzoni

7

1 reference

6 October 2017

D Pareyson

8

1 reference

6 October 2017

F Ajmar

9

1 reference

6 October 2017

language of work or name

English

0 references

publication date

1 July 1992

1 reference

Journal of Medical Genetics

6 October 2017

1 reference

6 October 2017

29

1 reference

6 October 2017

7

1 reference

6 October 2017

492-493

1 reference

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

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016027

Easy calculations of lod scores and genetic risks on small computers

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016027

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

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016027

The Duffy blood group is linked to the alpha-spectrin locus in a large pedigree with autosomal dominant inheritance of Charcot-Marie-Tooth disease type 1.

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016027

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

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016027

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

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016027

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

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016027

Altered sodium channel behaviour causes myotonia in dominantly inherited myotonia congenita

6 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016027

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016027

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

18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1640430

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

6 October 2017

PubMed publication ID

1640430

1 reference