996 resultados para Chromosome 12


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Kirje 12.12.1974

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A total of 357 house mice (Mus domesticus) from 83 localities uniformly distributed throughout Switzerland were screened for the presence of a homogenously staining region (HSR) on chromosome 1. Altogether 47 mice from 11 localities were HSR/+ or HSR/HSR. One sample of 11 individuals all had an HSR/HSR karyotype. Almost all mice with the variant were collected from the Rhone valley (HSR frequency: 61%) and Val Bregaglia (HSR frequency: 81%). For samples from most of the area of Switzerland, the HSR was absent. There was no strong association between the geographic distribution of the HSR and the areas of occurrence of metacentrics. However, at Chiggiogna the HSR was found on Rb (1.3). Possible explanations for the HSR polymorphism are discussed.

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Kirje 26.12.1964

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Obesity has become a major worldwide challenge to public health, owing to an interaction between the Western 'obesogenic' environment and a strong genetic contribution. Recent extensive genome-wide association studies (GWASs) have identified numerous single nucleotide polymorphisms associated with obesity, but these loci together account for only a small fraction of the known heritable component. Thus, the 'common disease, common variant' hypothesis is increasingly coming under challenge. Here we report a highly penetrant form of obesity, initially observed in 31 subjects who were heterozygous for deletions of at least 593 kilobases at 16p11.2 and whose ascertainment included cognitive deficits. Nineteen similar deletions were identified from GWAS data in 16,053 individuals from eight European cohorts. These deletions were absent from healthy non-obese controls and accounted for 0.7% of our morbid obesity cases (body mass index (BMI) >or= 40 kg m(-2) or BMI standard deviation score >or= 4; P = 6.4 x 10(-8), odds ratio 43.0), demonstrating the potential importance in common disease of rare variants with strong effects. This highlights a promising strategy for identifying missing heritability in obesity and other complex traits: cohorts with extreme phenotypes are likely to be enriched for rare variants, thereby improving power for their discovery. Subsequent analysis of the loci so identified may well reveal additional rare variants that further contribute to the missing heritability, as recently reported for SIM1 (ref. 3). The most productive approach may therefore be to combine the 'power of the extreme' in small, well-phenotyped cohorts, with targeted follow-up in case-control and population cohorts.

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Kirje 22.12.1964

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Kirje 12.3.1974

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This tool of communication between the 2,500 members of the Resident Advocate Committee (RAC) Program and the State Long-Term Care Ombudsman is used to keep all volunteers informed of their roles and responsibilities as they carry out the duties of a resident advocate. The Advocate is provided to Resident Advocates Committee members and long-term care facilities on a quarterly basis.

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Kirje 12.4.1966

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Kirje

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Kirje 1.12.1970

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Describe las acciones que realizó el crucero de evaluación de peces demersales, a bordo del BIC Humboldt entre noviembre y diciembre de 1989, cuya información ha permitido determinar la situación actual del subsistema demersal en lo referente a las condiciones oceanográficas, estructura especiológica, distribuón, concentración, biomasa y estructura poblacional de las diferentes especies, poniéndose especial énfasis en las de mayor abundancia económica, entre las que destaca la merluza.