Nonsyndromic X-linked mental retardation: where are the missing mutations? (Q34205119)

31 July 2017

Nonsyndromic X-linked mental retardation: where are the missing mutations? (English)

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31 July 2017

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31 July 2017

Maria Hoeltzenbein

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Helger G Yntema

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object named as

Helger Yntema

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Ben Hamel

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Jean-Pierre Fryns

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Jamel Chelly

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Claude Moraine

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Hans-Hilger Ropers

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31 July 2017

Michael Partington

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1 June 2003

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316-320

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Renpenning's syndrome--X-linked mental retardation.

31 July 2017

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

Nonspecific X-linked mental retardation II: the frequency in British Columbia.

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

XLMR genes: update 2000.

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

Prevalence of fragile X syndrome

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

Identification of the gene FMR2, associated with FRAXE mental retardation

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

Monogenic causes of X-linked mental retardation.

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

Genes for cognitive function: developments on the X.

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

Comprehensive human genetic maps: individual and sex-specific variation in recombination

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

MECP2 is highly mutated in X-linked mental retardation.

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

Low frequency of MECP2 mutations in mentally retarded males.

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

PAK3 mutation in nonsyndromic X-linked mental retardation

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

Genes for intelligence on the X chromosome.

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

Genetic effects on human cognition: lessons from the study of mental retardation syndromes

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

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https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2803%2900113-6

7 January 2021

10.1016/S0168-9525(03)00113-6

Identifiers

DOI

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31 July 2017

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PubMed ID

12801724