(Q42135631)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198134%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

Detection of tandem duplications and implications for linkage analysis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198134%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198134%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Daniel E. Weeks

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198134%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

author name string

T C Matise

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198134%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

A Chakravarti

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198134%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

J R Lupski

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198134%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

E Nelis

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198134%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

V Timmerman

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198134%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

C Van Broeckhoven

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198134%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

language of work or name

English

0 references

publication date

1 June 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198134%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

27 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198134%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

volume

54

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198134%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

page(s)

1110-1121

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198134%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198134%20AND%20SRC:MED&resulttype=core&format=json

Strategies for multilocus linkage analysis in humans

27 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=1918201

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918201

Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918201

Allele frequency estimation from data on relatives

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918201

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918201

An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918201

A simple scheme for the analysis of HLA linkages in pedigrees

29 May 2018

1 reference

12 December 2020

Programs for pedigree analysis: Mendel, Fisher, and dGene

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

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

1 reference

12 December 2020

Model misspecification and multipoint linkage analysis

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8198134%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference