(Q50773650)

19 March 2018

title

Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders. (English)

1 reference

19 March 2018

author

Marco Fichera

7

1 reference

19 March 2018

author name string

Maria Piccione

1

1 reference

19 March 2018

Cinzia Sanfilippo

2

1 reference

19 March 2018

Simona Cavani

3

1 reference

19 March 2018

Patrizia Salatiello

4

1 reference

19 March 2018

Michela Malacarne

5

1 reference

19 March 2018

Mauro Pierluigi

6

1 reference

19 March 2018

Daniela Luciano

8

1 reference

19 March 2018

Giovanni Corsello

9

1 reference

19 March 2018

publication date

1 December 2011

1 reference

19 March 2018

published in

Journal of Genetics

1 reference

19 March 2018

volume

90

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19 March 2018

issue

3

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19 March 2018

page(s)

473-477

1 reference

19 March 2018

https://scigraph.springernature.com/pub.10.1007/s12041-011-0096-4

exact match

0 references

cites work

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/10.1007%2FS12041-011-0096-4

21 January 2018

XLMR genes: update 2007.

1 reference

https://api.crossref.org/works/10.1007%2FS12041-011-0096-4

Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12041-011-0096-4

IL1-receptor accessory protein-like 1 (IL1RAPL1), a protein involved in cognitive functions, regulates N-type Ca2+-channel and neurite elongation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12041-011-0096-4

Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12041-011-0096-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12041-011-0096-4

Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12041-011-0096-4

A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12041-011-0096-4

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12041-011-0096-4

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12041-011-0096-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12041-011-0096-4

The aristaless (Arx) gene: one gene for many "interneuronopathies".

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12041-011-0096-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12041-011-0096-4

A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12041-011-0096-4

Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12041-011-0096-4

A novel mutation of the ARX gene in a male with nonsyndromic mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12041-011-0096-4

Clinical study of two brothers with a novel 33 bp duplication in theARXgene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12041-011-0096-4

Functional disomy of Xp: prenatal findings and postnatal outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12041-011-0096-4

Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22227935

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Random X-inactivation in a girl with duplication Xp11.21-p21.3: report of a patient and review of the literature

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22227935

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22227935

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S12041-011-0096-4

1 reference

19 March 2018

1 reference

19 March 2018