(Q56770927)

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Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21416597%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21416597%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

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Severe mental retardation

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based on heuristic

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agenesis of the corpus callosum

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based on heuristic

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1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21416597%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

William B. Dobyns

5

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25 January 2020

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Renzo Guerrini

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25 January 2020

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Carla Marini

2

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25 January 2020

Simone Gana

3

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25 January 2020

Jyotsna Sudi

4

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25 January 2020

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17 March 2011

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25 January 2020

American Journal of Medical Genetics

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25 January 2020

155A

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25 January 2020

4

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25 January 2020

892-897

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25 January 2020

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

Missense mutations of human homeoboxes: A review

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

ARX: a gene for all seasons

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

Central and gonadal hypogonadism in X-linked lissencephaly

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

Association of extremely skewed X-chromosome inactivation with Taiwanese women presenting with recurrent pregnancy loss.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

The roles of multiple importins for nuclear import of murine aristaless-related homeobox protein

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

Expression of a novel aristaless related homeobox gene 'Arx' in the vertebrate telencephalon, diencephalon and floor plate

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

Human ARX gene: genomic characterization and expression

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG).

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

Balanced X chromosome inactivation patterns in the Rett syndrome brain

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

ARX spectrum disorders: making inroads into the molecular pathology

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

ARX mutations in X-linked lissencephaly with abnormal genitalia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

Expansion of the ARX spectrum.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33923

21 January 2018

Identifiers

10.1002/AJMG.A.33923

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21416597%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21416597%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

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