Results 81 to 90 of about 9,461 (226)
Petits ARN C/D et syndrome de Prader-Willi [PDF]
, 2005 International ...
Cavaillé, Jérôme, Vitali, Patrice
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The Kaohsiung Journal of Medical Sciences, EarlyView.ABSTRACT Preeclampsia (PE) is an obstetric disease that is characterized by reduced migration and invasion of placental trophoblast cells. Here, the effects of the E3 ubiquitin ligase UBE3A on the migration and invasion of trophoblast cells were evaluated.
Xiu‐Jun Li +5 more
wiley +1 more source
The spectrum of mutations in UBE3A causing Angelman syndrome [PDF]
Human Molecular Genetics, 1999 Angelman syndrome (AS) is characterized by mental retardation, absence of speech, seizures and motor dysfunction. AS is caused by maternal deletions for chromosome 15q11-q13, paternal uniparental disomy (UPD), imprinting defects or loss-of-function mutations in the UBE3A locus which encodes E6-AP ubiquitin-protein ligase.
Fang, P. +15 more
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Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. [PDF]
, 2009 International audienceBACKGROUND: Maternally derived duplications of the 15q11-q13 region are the most frequently reported chromosomal aberrations in autism spectrum disorders (ASD).
Benyahia, Baya +22 more
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Analysis of Human Uniparental Embryonic Stem Cells Reveals New Putative Imprinted Loci
Cell Proliferation, EarlyView.To identify novel imprinted genes, parthenogenetic, androgenetic and biparental human embryonic stem cells and their differentiated neural progenitors were analysed by methylome and transcriptome profiling. This approach uncovered 12 putative novel imprinted genes, including a clustered region on chromosome 19, expanding the current catalogue of ...
Shay Kinreich, Nissim Benvenisty
wiley +1 more source
Birth seasonality studies in a large Prader-Willi syndrome cohort. [PDF]
, 2019 Prader-Willi syndrome (PWS) is generally due to sporadic paternal deletions of the chromosome 15q11-q13 region followed by maternal disomy 15. Advanced maternal age is more commonly seen in those with maternal disomy 15. Environmental factors (e.g., drug
Butler, Merlin G +6 more
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How copy number variations shape brain developmental disorders: Unraveling the synaptic puzzle
Psychiatry and Clinical Neurosciences, EarlyView.Neurodevelopmental disorders (NDDs), such as schizophrenia (SCZ), Attention‐deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), learning disabilities, and intellectual disabilities (ID), are highly prevalent. One significant genetic factor associated with NDDs is copy number variations (CNVs), which are structural changes in the ...
Tianqi Wang +3 more
wiley +1 more source
Ube3a expression is not altered in Mecp2 mutant mice [PDF]
Human Molecular Genetics, 2006 Rett syndrome (RTT) is a neurodevelopmental disorder characterized by cognitive regression, loss of purposeful hand movements and speech, stereotypies, ataxia, seizures, mental retardation and acquired microcephaly. Mutations in MECP2, encoding methyl-CpG-binding protein 2, are responsible for approximately 90% of classic RTT cases.
Charandle, Jordan, Uta, Francke
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Common Ribs of Inhibitory Synaptic Dysfunction in the Umbrella of Neurodevelopmental Disorders
, 2018 The term neurodevelopmental disorder (NDD) is an umbrella term used to group together a heterogeneous class of disorders characterized by disruption in cognition, emotion, and behavior, early in the developmental timescale.
Hines, Rochelle M. +2 more
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