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Article
Open AccessThe impact of social complexity on the visual exploration of others' actions in preschoolers with autism spectrum disorder
Typical development of socio-communicative skills relies on keen observation of others. It thus follows that decreased social attention negatively impacts the subsequent development of socio-communicative abil...
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Article
Open AccessRevisiting afro-alpine Lake Garba Guracha in the Bale Mountains of Ethiopia: rationale, chronology, geochemistry, and paleoenvironmental implications
Previous paleolimnological studies demonstrated that the sediments of Garba Guracha, situated at 3950 m asl in the afro-alpine zone of the Bale Mountains of Ethiopia, provide a complete Late Glacial and Holoce...
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Article
Open AccessUnderstanding others: a pilot investigation of cognitive and affective facets of social cognition in patients with 22q11.2 deletion syndrome (22q11DS)
Although significant impairments in the affective and cognitive facets of social cognition have been highlighted in patients with 22q11.2 deletion syndrome (22q11DS) in previous studies, these domains have nev...
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Article
Impact of polymorphisms in WFS1 on prediabetic phenotypes in a population-based sample of middle-aged people with normal and abnormal glucose regulation
Recently, variants in WFS1 have been shown to be associated with type 2 diabetes. We aimed to examine metabolic risk phenotypes of WFS1 variants in glucose-tolerant people and in individuals with abnormal glucose...
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Article
Open AccessA single-nucleotide polymorphism in the RAD51 gene modifies breast cancer risk in BRCA2 carriers, but not in BRCA1 carriers or noncarriers
Variation in the penetrance estimates for BRCA1 and BRCA2 mutation carriers suggests that other genetic polymorphisms may modify the cancer risk in carriers. The RAD51 gene, which participates in homologous recom...
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Article
Open AccessCAG and GGC repeat polymorphisms in the androgen receptor gene and breast cancer susceptibility in BRCA1/2 carriers and non-carriers
Variation in the penetrance estimates for BRCA1 and BRCA2 mutations carriers suggests that other genetic polymorphisms may modify the cancer risk in carriers. A previous study has suggested that BRCA1 carriers wi...
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Article
Isolation and characterization of the human AKT1 gene, identification of 13 single nucleotide polymorphisms (SNPs), and their lack of association with Type II diabetes
Aims/hypothesis. AKT1, a serine/threonine protein kinase, is an important downstream target of the insulin-signalling pathway, with both anti-apoptotic and peripheral metabolic effects. Because i...
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Article
Map** of the human insulin receptor substrate-2 gene, identification of a linked polymorphic marker and linkage analysis in families with Type II diabetes: no evidence for a major susceptibility role
Insulin receptor substrate 2 (IRS-2) is a substrate of the insulin receptor and mediates the action of the insulin. Disruption of the IRS-2 gene in mice results in peripheral insulin resistance and relative i...
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Article
Normal proinsulin processing despite beta-cell dysfunction in persistent hyperinsulinaemic hypoglycaemia of infancy (nesidioblastosis)
Persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) is a genetic disorder which causes severe hypoglycaemia in the neonate. The beta cells fail to respond to changes in blood glucose levels in all th...
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Article
Regulation of insulin release in persistent hyperinsulinaemic hypoglycaemia of infancy studied in long-term culture of pancreatic tissue
Pancreatic tissue was obtained during therapeutic subtotal pancreatectomy from five infants with persistent hyperinsulinaemic hypoglycaemia of infancy (so-called nesidioblastosis). Collagenase digests of the s...
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14 PERSISTENT HYPERINSULINENIC HYPOGLYCEMIA OF INFANCY – LONG-TERM EXPERIENCE WITH 28 PATIENTS
We studied 28 patients with Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI). Twenty-two developed symptomatic hypoglycemia within 2 days of life (15 of these required surgery) while 5 developed firs...
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Radiation therapy and treatment results of malignant tumors of the nasal cave
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DIABETES MELLITUS AND VASCULAR DISEASE: POSSIBLE ROLE OF HYDROXYACIDS IN ITS GENESIS
Studies to date have not elucidated the cause(s) for diabetic neovascular proliferation. We report that a metabolite of arachidonic acid (AA), 15 hydroxyeicosatetraenoic acid (15HETE) is present in vessels, pl...