(Q34391261)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8743986%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

title

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

1 reference

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18 October 2019

author

Albert de la Chapelle

7

object named as

A de la Chapelle

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18 October 2019

6

S M Leal

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18 October 2019

author name string

S Ranta

1

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18 October 2019

A E Lehesjoki

2

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18 October 2019

A Hirvasniemi

3

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18 October 2019

J Weissenbach

4

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18 October 2019

B Ross

5

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18 October 2019

T C Gilliam

8

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18 October 2019

publication date

1 May 1996

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18 October 2019

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18 October 2019

volume

6

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18 October 2019

issue

5

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18 October 2019

page(s)

351-360

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The evaluation and treatment of seizures

18 October 2019

cites work

1 reference

12 December 2020

The treatable epilepsies. (First of Two Parts).

1 reference

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Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.

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

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12 December 2020

Avoiding recomputation in linkage analysis.

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12 December 2020

Refinement of the spinal muscular atrophy locus by genetic and physical mapping.

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12 December 2020

Characterization of the cathepsin B gene and multiple mRNAs in human tissues: evidence for alternative splicing of cathepsin B pre-mRNA.

1 reference

12 December 2020

Localization of the squalene synthase gene (FDFT1) to human chromosome 8p22-p23.1.

1 reference

12 December 2020

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

1 reference

12 December 2020

Faster sequential genetic linkage computations

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12 December 2020

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

1 reference

12 December 2020

Construction and characterization of a normalized cDNA library

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12 December 2020

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

1 reference

12 December 2020

Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents

1 reference

12 December 2020

Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients

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12 December 2020

1 reference

12 December 2020

Localization of a gene for partial epilepsy to chromosome 10q

1 reference

12 December 2020

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

1 reference

12 December 2020

Mapping of the human nicotinic acetylcholine receptor beta 3 gene (CHRNB3) within chromosome 8p11.2.

1 reference

12 December 2020

Northern Epilepsy Syndrome: Clinical Course and the Effect of Medication on Seizures

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12 December 2020

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

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12 December 2020

Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction

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12 December 2020

Selection of cDNAs using chromosome-specific genomic clones: application to human chromosome 13

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12 December 2020

Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts

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12 December 2020

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

1 reference

12 December 2020

Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2

1 reference

12 December 2020

Report and abstracts of the second international workshop on human chromosome 8 mapping 1994. Oxford, United Kingdom, September 16-18, 1994.

1 reference

12 December 2020

Nucleotide and predicted amino acid sequences of cloned human and mouse preprocathepsin B cDNAs

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12 December 2020

Incidence of epilepsy and unprovoked seizures in Rochester, Minnesota: 1935-1984.

1 reference

12 December 2020

Alzheimer's disease amyloid beta-clipping enzyme (APP secretase): identification, purification, and characterization of the enzyme

1 reference

12 December 2020

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

1 reference

12 December 2020

Neuroradiological findings in the northern epilepsy syndrome.

1 reference

12 December 2020

A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones

1 reference

12 December 2020

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

1 reference

12 December 2020

A nonsense mutation in the α4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBNI)

1 reference

12 December 2020

1 reference

12 December 2020

A first-generation physical map of the human genome

1 reference

12 December 2020

Identifiers

DOI

10.1101/GR.6.5.351

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8743986%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8743986%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

PubMed publication ID

8743986

1 reference