(Q35625321)

English

The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8

scientific article published on July 1994

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scholarly article

1 reference

Europe PubMed Central

9 August 2017

The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8 (English)

1 reference

Europe PubMed Central

9 August 2017

Albert de la Chapelle

9

object named as

de la Chapelle A

1 reference

Europe PubMed Central

9 August 2017

author name string

Tahvanainen E

1

1 reference

Europe PubMed Central

9 August 2017

Ranta S

2

1 reference

Europe PubMed Central

9 August 2017

Hirvasniemi A

3

1 reference

Europe PubMed Central

9 August 2017

Karila E

4

1 reference

Europe PubMed Central

9 August 2017

Leisti J

5

1 reference

Europe PubMed Central

9 August 2017

Sistonen P

6

1 reference

Europe PubMed Central

9 August 2017

Weissenbach J

7

1 reference

Europe PubMed Central

9 August 2017

Lehesjoki AE

8

1 reference

Europe PubMed Central

9 August 2017

language of work or name

0 references

publication date

1 July 1994

1 reference

Europe PubMed Central

9 August 2017

Proceedings of the National Academy of Sciences of the United States of America

1 reference

Europe PubMed Central

9 August 2017

91

1 reference

Europe PubMed Central

9 August 2017

7267-7270

1 reference

Europe PubMed Central

9 August 2017

15

1 reference

Europe PubMed Central

9 August 2017

Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44380

12 July 2018

A first-generation physical map of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44380

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44380

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44380

12 July 2018

Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44380

12 July 2018

Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44380

12 July 2018

Strategies for multilocus linkage analysis in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44380

12 July 2018

Benign familial neonatal convulsions linked to genetic markers on chromosome 20.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44380

12 July 2018

Computer-simulation methods in human linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44380

12 July 2018

The evaluation and treatment of seizures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44380

12 July 2018

Genes and epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44380

12 July 2018

Cleavage of amyloid beta peptide during constitutive processing of its precursor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44380

12 July 2018

Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44380

12 July 2018

Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44380

12 July 2018

Chromosomal localization of seven neuronal nicotinic acetylcholine receptor subunit genes in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44380

12 July 2018

A second-generation linkage map of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44380

12 July 2018

Human chromosome 8 linkage map based on short tandem repeat polymorphisms: effect of genotyping errors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44380

12 July 2018

Aberrant splicing of the CHM gene is a significant cause of choroideremia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44380

12 July 2018

Report and abstracts of the First International Workshop on Human Chromosome 8 Mapping. Vancouver, British Columbia, May 2-4, 1993.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44380

25 September 2018

Confirmation of the human cathepsin B gene (CTSB) assignment to chromosome 8

1 reference

https://pubmed.ncbi.nlm.nih.gov/8041778

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6

1 reference

https://pubmed.ncbi.nlm.nih.gov/8041778

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.91.15.7267

1 reference

Europe PubMed Central

9 August 2017

1994PNAS...91.7267T

0 references

1 reference

Europe PubMed Central

9 August 2017

1 reference

Europe PubMed Central

9 August 2017

ResearchGate publication ID

0 references

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