ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia (Q57387330)

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19 January 2020

title

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia (English)

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19 January 2020

5

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Nadia Bahi-Buisson

7

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Karine Poirier

12

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19 January 2020

Didier Devys

17

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Jean-Louis Mandel

18

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6

Vincent Laugel

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Jean-Michel Pinoit

14

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Jean-Michel Pinoit

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Jamel Chelly

16

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Jamel Chelly

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Valérie Biancalana

13

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Valérie Biancalana

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19 January 2020

author name string

Mireille Cossée

1

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Laurence Faivre

2

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Christophe Philippe

3

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Heifa Hichri

4

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Jean-François Lemaitre

8

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Bruno Leheup

9

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Bruno Delobel

10

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Bénédicte Demeer

11

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Sophie Julia

15

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language of work or name

English

0 references

publication date

1 January 2011

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American Journal of Medical Genetics

19 January 2020

published in

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volume

155A

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19 January 2020

page(s)

98-105

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19 January 2020

issue

1

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A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder.

19 January 2020

cites work

1 reference

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

21 January 2018

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An assay for X inactivation based on differential methylation at the fragile X locus, FMR1.

21 January 2018

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Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

21 January 2018

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

21 January 2018

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Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome

21 January 2018

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ARX: a gene for all seasons

21 January 2018

1 reference

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Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology.

21 January 2018

1 reference

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Screening of the ARX gene in 682 retarded males.

21 January 2018

1 reference

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Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.

21 January 2018

1 reference

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Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

21 January 2018

1 reference

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Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

21 January 2018

1 reference

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Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females

21 January 2018

1 reference

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

21 January 2018

1 reference

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The ARX mutations: a frequent cause of X-linked mental retardation.

21 January 2018

1 reference

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Human ARX gene: genomic characterization and expression

21 January 2018

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Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.

21 January 2018

1 reference

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Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33785

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

21 January 2018

1 reference

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

21 January 2018

1 reference

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Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1002/AJMG.A.33785

1 reference

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19 January 2020

1 reference