Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q. (Q35882736)

10 August 2017

Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q. (English)

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progressive myoclonus epilepsy

10 August 2017

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inferred from title

author

Albert de la Chapelle

10

object named as

A de la Chapelle

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10 August 2017

K Virtaneva

1

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10 August 2017

J Miao

2

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10 August 2017

A L Träskelin

3

1 reference

10 August 2017

N Stone

4

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10 August 2017

J A Warrington

5

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10 August 2017

J Weissenbach

6

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10 August 2017

R M Myers

7

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10 August 2017

D R Cox

8

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10 August 2017

P Sistonen

9

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10 August 2017

1 June 1996

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American Journal of Human Genetics

10 August 2017

language of work or name

English

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published in

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10 August 2017

58

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10 August 2017

6

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10 August 2017

1247-1253

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Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915057

Are moment bounds on the recombination fraction between a marker and a disease locus too good to be true? Allelic association mapping revisited for simple genetic diseases in the Finnish population

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915057

Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915057

Disease gene mapping in isolated human populations: the example of Finland

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915057

Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915057

An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915057

High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915057

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915057

A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915057

Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915057

Progressive myoclonus epilepsy. A clinical and histopathological study.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915057

The Finnish population structure A genetic and genealogical study

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915057

Progressive myoclonus epilepsies: specific causes and diagnosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915057

Dinucleotide repeat polymorphism at the human liver-type 6-phosphofructokinase (PFKL) gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915057

Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915057

Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915057

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915057

A novel in vivo method to detect DNA sequence variation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915057

Linkage disequilibrium as a gene-mapping tool.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915057

Linkage disequilibrium mapping of the cornea plana congenita gene CNA2

24 September 2018

1 reference

12 December 2020

Linkage studies in progressive myoclonus epilepsy: Unverricht-Lundborg and Lafora's diseases

1 reference

12 December 2020

A NotI restriction map of the entire long arm of human chromosome 21

1 reference

12 December 2020

Progressive myoclonus epilepsy of Unverricht-Lundborg type: a clinical and molecular genetic study of a family from the United States with four affected sibs

1 reference

12 December 2020

Localization of cDNAs to a region poorly represented in the CEPH chromosome 21 YAC contig: candidate genes for genetic diseases mapped to 21q22.3.

1 reference

12 December 2020

Identifiers

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10 August 2017

PubMed publication ID

8651302

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