MECP2 duplication phenotype in symptomatic females: report of three further cases. - Wikidata - wikimedia - TriplyDB

MECP2 duplication phenotype in symptomatic females: report of three further cases.

MECP2 duplication phenotype in symptomatic females: report of three further cases.

http://www.wikidata.org/entity/Q37581158

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Epigenetic Effect of Environmental Factors on Autism Spectrum Disorders Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration.A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes.Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?The Role of MicroRNAs in Cerebellar Development and Autism Spectrum Disorder During Embryogenesis.Infectious and immunologic phenotype of MECP2 duplication syndrome.Epigenetic alterations induced by environmental stress associated with metabolic and neurodevelopmental disorders.MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum.

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MECP2 duplication phenotype in symptomatic females: report of three further cases.

http://www.wikidata.org/entity/Q37581158

description

article científic

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article scientifique

@fr

articolo scientifico

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artigo científico

@pt

bilimsel makale

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scientific article published on 28 January 2014

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

MECP2 duplication phenotype in symptomatic females: report of three further cases.

@en

MECP2 duplication phenotype in symptomatic females: report of three further cases.

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type

label

MECP2 duplication phenotype in symptomatic females: report of three further cases.

@en

MECP2 duplication phenotype in symptomatic females: report of three further cases.

@nl

prefLabel

MECP2 duplication phenotype in symptomatic females: report of three further cases.

@en

MECP2 duplication phenotype in symptomatic females: report of three further cases.

@nl

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Molecular Cytogenetics

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MECP2 duplication phenotype in symptomatic females: report of three further cases

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P2093

Alessandro Simonati

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Annarita Contaldo

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Lucia Criscuolo

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Roberto Ciccone

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P2860

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.

Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region.

The role of MeCP2 in brain development and neurodevelopmental disorders

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

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

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

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.

De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.

Genetic and epileptic features in Rett syndrome

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scholarly article

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10.1186/1755-8166-7-10

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1

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Francesca Novara

Orsetta Zuffardi

Roberta Battini

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2014-01-28T00:00:00Z

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259959236

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