Search results for "mental retardation"

showing 6 items of 26 documents

Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation

2015

no abstract available

Neurologybusiness.industryMarinesco–Sjögren syndromeAutosomal recessive cerebellar ataxias Cerebellar atrophy Early-onset cataracts Marinesco-Sjögren Syndrome Mental retardation SIL1 geneCancer researchMedicineCerebellar atrophySettore MED/26 - NeurologiaNeurology (clinical)businessmedicine.diseaseAutosomal recessive cerebellar ataxias; Cerebellar atrophy; Early-onset cataracts; Marinesco-Sjögren Syndrome; Mental retardation; SIL1 geneFrameshift mutation
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Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

2020

PurposeMarfanoid habitus (MH) combined with intellectual disability (ID) (MHID) is a clinically and genetically heterogeneous presentation. The combination of array CGH and targeted sequencing of genes responsible for Marfan or Lujan–Fryns syndrome explain no more than 20% of subjects.MethodsTo further decipher the genetic basis of MHID, we performed exome sequencing on a combination of trio-based (33 subjects) or single probands (31 subjects), of which 61 were sporadic.ResultsWe identified eight genes with de novo variants (DNVs) in at least two unrelated individuals (ARID1B, ATP1A1, DLG4, EHMT1, NFIX, NSD1, NUP205 and ZEB2). Using simulation models, we showed that five genes (DLG4, NFIX, …

ProbandMale[SDV]Life Sciences [q-bio]intellectual deficiencyMESH: NFI Transcription Factorschromatin remodelingMarfan SyndromeCraniofacial AbnormalitiesMESH: ChildIntellectual disabilityMESH: Craniofacial AbnormalitiesMESH: Mental Retardation X-LinkedExomeChildde novo variantsGenetics (clinical)Exome sequencingGeneticsMESH: ExomeMESH: Middle AgedbiologyMESH: Genetic Predisposition to DiseaseMiddle AgedNFIXMESH: Young AdultFemaleAdultMESH: MutationAdolescentChromatin remodelingMESH: Intellectual DisabilityMESH: Marfan SyndromeEHMT1Young AdultMESH: Whole Exome SequencingIntellectual DisabilityExome SequencingGeneticsmedicineHumansGenetic Predisposition to Diseasemarfanoid habitusGeneMESH: Neurodevelopmental DisordersMESH: AdolescentMESH: HumansGenetic heterogeneityMESH: Chromatin Assembly and DisassemblyMESH: Histone-Lysine N-MethyltransferaseMESH: AdultHistone-Lysine N-Methyltransferasemedicine.diseaseChromatin Assembly and DisassemblyMESH: MaleNFI Transcription FactorsNeurodevelopmental DisordersMutationbiology.proteinMental Retardation X-LinkedMESH: FemaleJournal of medical genetics
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VIIPO-projekti : laitoksessa asuvan puhumattoman kehitysvammaisen aikuisen kommunikaatiokuntoutuksesta

1997

institutional staff trainingaugmentative and alternative communicationsign languagemental retardation
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"Musta tulee näin hyvä aikuinen" : siirtymävaihe nuoruudesta aikuisuuteen psyykkisesti kehitysvammaisilla

1997

kehitysvammaisuusyouthaikuisuusadulthoodnuoruustransitionsiirtymävaiheaikuistuminensiirtymävaiheen suunnitelmamental retardationkehitysvammaisettransition plan
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Aspects of quality of life for adults with mental retardation: health related fitness and adaptive behavior

1999

quality of lifehealth related fitnessmental retardationadaptive behavior
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Samhandling om tjenester til personer med utviklingshemming og samtidig psykiske lidelser/ plager: Hvilke erfaringer har deres foreldre?

2016

Masteroppgave psykisk helsearbeid - Universitetet i Agder 2016 National as well as international research shows that people with mental retardation are more prone to develop mental ailments and behavioral problems then the general population. Still, little subject material illuminates the collaboration of services provided to this group of people. The purpose of this study is to explore how the parents of people with mental retardation and simultaneous mental illnesses/ ailments perceive the collaboration of services provided to their offspring: What are their experiences on collaboration between the different service providers? How do they view collaboration between themselves/ their offsp…

utviklingshemmingkvalitativ studiequalitative studyparentsVDP::Medical disciplines: 700::Health sciences: 800psykiske plagerservice-collaborationmental retardationmental illnesssamhandlingME504foreldremental ailmentpsykiske lidelser
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