Evidence map›Paper›PMID 8743986›Full record

ArticleGenome research1996

Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.

S Ranta, A E Lehesjoki, A Hirvasniemi, J Weissenbach, B Ross, S M Leal, A de la Chapelle, T C Gilliam

Abstract read
In one paragraph

Article in Genome research, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

S RantaDepartment of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.
A E Lehesjoki
A Hirvasniemi
J Weissenbach
B Ross
S M Leal
A de la Chapelle
T C Gilliam

Funding

LINKAGE ANALYSIS METHODS FOR HUMAN GENE MAPPINGR01HG000008 · NHGRI · ROCKEFELLER UNIVERSITY · PI OTT, JURG · 1990 to 2004
$1.2M
ADVANCED LINKAGE ANALYSIS COURSEST15HG000016 · NHGRI · ROCKEFELLER UNIVERSITY · PI LEAL, SUZANNE M · 1991 to 2013
$1.1M
NHGRI NIH HHS R01 HG000008NHGRI NIH HHS T15 HG000016
6 · The paper itself

Abstract

Progressive epilepsy with mental retardation (EPMR) is an autosomal recessive disorder discovered recently from an isolated region in Finland. The disorder is characterized by normal early development, generalized tonic-clonic seizures with onset at 5-10 years of age, and progressive mental retardation beginning 2-5 years after the onset of seizures. We recently mapped the EPMR locus to a 7-cM region on chromosome 8p between markers AFM185xb2 and D8S262. A recombination detected with a new microsatellite marker AFMa054td9 narrows the region to 4 cM. A yeast artificial chromosome (YAC) contig containing 22 YACs was constructed across the disease gene region. The YAC contig is characterized by a collection of 19 YAC-end sequence-tag sites together with seven microsatellite markers. The entire YAC contig spans a minimum of 3 Mb. Moreover, the distal end of the contig contains a subtelomeric YAC yRM2205 that anchors the contig to the telomere. Construction of a YAC contig across the disease gene region is an essential step toward the isolation of the EPMR gene.

Indexed as

Chromosomes, Human, Pair 8Chromosome MappingChromosomes, Artificial, YeastDNA PrimersEpilepsyFemaleGenetic LinkageGenetic MarkersGenomic LibraryGenotypeHumansIntellectual DisabilityMaleMicrosatellite RepeatsPedigreeDNA PrimersGenetic Markers

Identifiers

PMID8743986
PMCPMC6145179

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.