High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p. (Q34440826)

2 August 2017

High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p. (English)

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2 August 2017

Albert de la Chapelle

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object named as

de la Chapelle A

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2 August 2017

Ranta S

1

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2 August 2017

Lehesjoki AE

2

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2 August 2017

de Fatima Bonaldo M

3

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2 August 2017

Knowles JA

4

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2 August 2017

Hirvasniemi A

5

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2 August 2017

Ross B

6

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2 August 2017

de Jong PJ

7

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2 August 2017

Soares MB

8

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2 August 2017

Gilliam TC

10

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2 August 2017

1 September 1997

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2 August 2017

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2 August 2017

7

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2 August 2017

9

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2 August 2017

887-896

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

2 August 2017

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https://api.crossref.org/works/10.1101%2FGR.7.9.887

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

21 January 2018

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https://api.crossref.org/works/10.1101%2FGR.7.9.887

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

DNA structural properties of AF9 are similar to MLL and could act as recombination hot spots resulting in MLL/AF9 translocations and leukemogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

Exon amplification: a strategy to isolate mammalian genes based on RNA splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

Northern epilepsy syndrome: clinical course and the effect of medication on seizures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

GKAP, a novel synaptic protein that interacts with the guanylate kinase-like domain of the PSD-95/SAP90 family of channel clustering molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

The Drosophila tumor suppressor gene dlg is required for normal synaptic bouton structure

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

Localization of a gene for partial epilepsy to chromosome 10q

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

The evaluation and treatment of seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

A Gene Map of the Human Genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

Mutational analysis of familial and sporadic hyperekplexia

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

Construction and characterization of a normalized cDNA library

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1101%2FGR.7.9.887

21 January 2018

Identifiers

DOI

10.1101/GR.7.9.887

1 reference

2 August 2017

1 reference