[PDF] Top 20 Promoção de um projeto de Empreendedorismo no Ensino Básico
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SETD5 gene variant associated with mild intellectual disability - a case report.
... Recent studies have identified several mutations in autosomal and X-chromosomes supporting the idea that more than 2000 genes participate in the intellectual development, but the complete genetic basis for ID is ... See full document
17
Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia
... We would like to thank the patient’s family for their written informed consent to publish this case report and photographs. We also acknowledge the DECIPHER database for checking overlapping deletions. We ... See full document
7
Validation of the lifestress inventory for people with a mild intellectual disability
... The construction and preliminary validation of a questionnaire measuring stress for HIV positive homosexual men (Nott & Vedhara, 1995) is one example of stress being measured in a relatively homogeneous group. The ... See full document
6
De novo SETD5 loss-of-function variant as a cause for intellectual disability in a 10-year old boy with an aberrant blind ending bronchus.
... A report by Kellogg and others [2013] described 4 patients with 3p25.3 deletions and ID, including 3 previously reported patients by Peltekova and others [2012], Riess and others [2012] and Gunnarsson and Foyn ... See full document
19
MLPA analysis in a cohort of patients with autism
... this case, the deletion was inherited from an apparently normal ...to intellectual disability with borderline intellectual quotient and autism (present in the patient), epilepsy, bipolar ... See full document
18
Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report
... we report the study of a patient who has ID associated with speech ...the gene [16], our hypothesis is that LINC01266 could be involved in the upregulation of ... See full document
9
Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature
... potentially associated phenotype (for a review, see ...are mild to moderate intellectual disability or developmental delay (15 out of 24 patients), epilepsy (4 out of 24 patients) and ... See full document
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Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report
... precursor protein could protect against the pathogenesis of Alzheimer ’ s disease [33]. Expression of this gene has also been reported in the thyroid and salivary gland [34]. LRP1B is a very large human ... See full document
6
Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy
... Conclusions: The identification of the KCNB1 variant c.595A.T (p.Ile199Phe) in a neurodevelop- mental disorder that included epilepsy with centrotemporal spikes expands the phenotypic spec- trum of epilepsies ... See full document
10
Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability
... We report the first case of a ...reported case of a ~ 3½ year-old boy with a pure 473 kb deletion at 1q43 comprising only CHRM3 [12] (Table ...tual disability, developmental delay, autistic ... See full document
16
A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report
... index case, a male patient was born at term as the first child to healthy, young, non-consanguineous Caucasian ...showed mild slowing of background ... See full document
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Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report
... or no speech development, seizures, and hyperactivity [4]. Further molecular analyses showed expression of the human SHROOM4 in adult and fetal brain structures, and indicated its role in the function of specific ... See full document
18
Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia
... We report 2 brothers with a novel homozygous BRAT1 variant who present with a much milder phenotype than reported in the literature to date, with mild intellectual disability, ... See full document
9
A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign
... We report a young girl, presenting with growth retard- ation, surgically resolved atrial septal defect, macrocytic anemia and mild cognitive impairment with learning dis- ability and harboring a double ... See full document
9
A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia
... SLC22A12 gene (URAT1), while type 2 is caused by defects in the SLC2A9 gene ...SLC22A12 gene have been found (compound heterozygotes and/or homozygotes), most of whom are Japanese and ... See full document
5
Self-concepts and socioemotional functioning of children with Mild Intellectual Disability (MID) and parents' attributions for their children's academic struggles
... of intellectual impairment and prevalence of socioemotional dysfunction in children with MR; while certain researchers argue that individuals with severe forms of intellectual impairment evidence higher ... See full document
8
The nature of stressors experienced by people with an intellectual disability
... only associated with high impact scores (above 3 on a 4 point scale) but also stressed almost half the ...an intellectual disability probably reflects their lifestyle which often entails living in a ... See full document
11
Identifying classes of persons with mild intellectual disability or borderline intellectual functioning: a latent class analysis
... retrospective case ana- lysis that did not require an active participation or action of the ...retrospective case ana- lysis without ethical approval: (a) the study is of general interest, (b) the study ... See full document
10
Atypical osteogenesis imperfecta caused by a 17q21.33 deletion involving COL1A1.
... Here we describe a 8-year-old female with OI, intellectual disability and behavioural problems caused by a 2.3Mb deletion of chromosome 17q21.33 containing COL1A1. This deletion was detected using array ... See full document
18
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
... Biallelic ATP8A2 gene mutations were identified in all af- fected individuals, consistent with autosomal recessive in- heritance (Table 4). Carrier parents were asymptomatic. Identified genetic variants included ... See full document
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