(Q48207636)

9 February 2018

title

Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1. (English)

1 reference

9 February 2018

1 reference

Bruyere H

1

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9 February 2018

Lewis S

2

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9 February 2018

Wood S

3

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9 February 2018

MacLeod PJ

4

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9 February 2018

Langlois S

5

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9 February 2018

publication date

1 March 1999

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9 February 2018

published in

Clinical Genetics

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9 February 2018

volume

55

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9 February 2018

page(s)

173-181

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9 February 2018

issue

3

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9 February 2018

Progress in mapping human epilepsy genes

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

A potassium channel mutation in neonatal human epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

Linkage analysis suggests at least two loci for X-linked non-specific mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

Localization of non-specific X-linked mental retardation genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33)

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

Linkage analysis in three families with nonspecific X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38)

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

Assignment of the gene for human DNA polymerase alpha to the X chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

Molecular cloning, cDNA sequence, and chromosomal assignment of the human radixin gene and two dispersed pseudogenes

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

Interaction of radixin with Rho small G protein GDP/GTP exchange protein Dbl

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

Mind the GAP, Rho, Rab and GDI.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

Cloning and sequencing of porcine moesin and radixin cDNA and identification of highly conserved domains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

The prevalence and incidence of convulsive disorders in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

7 January 2021

Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

7 January 2021

Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

7 January 2021

Infantile spasms: case report of sex-linked inheritance

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

7 January 2021

X-linked mental retardation and infantile spasms in two brothers.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

7 January 2021

Cognitive assessment of infants with West syndrome: how useful is it for diagnosis and prognosis?

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

7 January 2021

XLMR genes: update 1996.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

7 January 2021

How many X-linked genes for non-specific mental retardation (MRX) are there?

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

7 January 2021

X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3-p22.12.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

7 January 2021

Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550305.X

7 January 2021

10.1034/J.1399-0004.1999.550305.X

Identifiers

DOI

1 reference

9 February 2018

PubMed ID

10334471

1 reference

9 February 2018