(Q43804873)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15319782%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

title

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

1 reference

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31 December 2019

1

1 reference

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31 December 2019

2

Jamel Chelly

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15319782%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

publication date

1 September 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15319782%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

31 December 2019

published in

1 reference

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31 December 2019

volume

12

1 reference

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31 December 2019

page(s)

689-693

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15319782%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

issue

9

1 reference

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201247

31 December 2019

exact match

0 references

cites work

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The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers

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Genes for cognitive function: developments on the X.

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Monogenic causes of X-linked mental retardation.

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

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X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome

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MECP2 mutation in male patients with non-specific X-linked mental retardation.

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MECP2 is highly mutated in X-linked mental retardation.

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MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.

21 January 2018

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

21 January 2018

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Expanding phenotype of XNP mutations: mild to moderate mental retardation.

21 January 2018

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Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene

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X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms

21 January 2018

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Clinical and molecular contributions to the understanding of X-linked mental retardation

21 January 2018

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Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France.

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Low frequency of MECP2 mutations in mentally retarded males.

21 January 2018

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Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation

21 January 2018

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The assertion that a G21V mutation in AGTR2 causes mental retardation is not supported by other studies.

21 January 2018

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

21 January 2018

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

21 January 2018

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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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Detecting polymorphisms and mutations in candidate genes

21 January 2018

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Screening of the ARX gene in 682 retarded males.

21 January 2018

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Recurrence risks in mental retardation

21 January 2018

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The human cerebral cortex: gender differences in structure and function.

21 January 2018

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Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group

21 January 2018

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Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

21 January 2018

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Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia

21 January 2018

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Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene.

21 January 2018

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Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201247

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly

21 January 2018

1 reference

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Recurrence risks in undiagnosed mental retardation

21 January 2018

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The recurrence risks for mild idiopathic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201247

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201247

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15319782%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

31 December 2019

0 references

1 reference