(Q37408049)

English

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

scientific article published on 27 August 2009

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scholarly article

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Europe PubMed Central

PMC publication ID

20 August 2017

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females (English)

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Europe PubMed Central

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20 August 2017

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M Clara Bonaglia

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Girolamo A Vitello

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Graeme Black

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publication date

27 August 2009

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20 August 2017

American Journal of Human Genetics

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20 August 2017

85

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394-400

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20 August 2017

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

1 reference

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Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

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Autism-associated familial microdeletion of Xp11.22

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Structural variation of chromosomes in autism spectrum disorder

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Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

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Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate

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X-inactivation profile reveals extensive variability in X-linked gene expression in females

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Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

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Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

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Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene

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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

1 reference

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Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy

1 reference

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

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2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

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The epidemiology of mental retardation: challenges and opportunities in the new millennium

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

1 reference

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Genome architecture, rearrangements and genomic disorders

1 reference

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Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

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Theory of X-linkage of major intellectual traits

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Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

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Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.

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Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.

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PQBP-1 transgenic mice show a late-onset motor neuron disease-like phenotype

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Identifiers

10.1016/J.AJHG.2009.08.001

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

PubMed publication ID

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Europe PubMed Central

PMC publication ID

20 August 2017

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