205 research outputs found
Cancellation of elective surgeries in a Brazilian public hospital: reasons and estimated reduction
Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia
<p>Abstract</p> <p>Background</p> <p>Mutations in the <it>LDLR </it>gene are the most frequent cause of Familial hypercholesterolemia, an autosomal dominant disease characterised by elevated concentrations of LDL in blood plasma. In many populations, large genomic rearrangements account for approximately 10% of mutations in the <it>LDLR </it>gene.</p> <p>Methods</p> <p>DNA diagnostics of large genomic rearrangements was based on Multiple Ligation dependent Probe Amplification (MLPA). Subsequent analyses of deletion and duplication breakpoints were performed using long-range PCR, PCR, and DNA sequencing.</p> <p>Results</p> <p>In set of 1441 unrelated FH patients, large genomic rearrangements were found in 37 probands. Eight different types of rearrangements were detected, from them 6 types were novel, not described so far. In all rearrangements, we characterized their exact extent and breakpoint sequences.</p> <p>Conclusions</p> <p>Sequence analysis of deletion and duplication breakpoints indicates that intrachromatid non-allelic homologous recombination (NAHR) between <it>Alu </it>elements is involved in 6 events, while a non-homologous end joining (NHEJ) is implicated in 2 rearrangements. Our study thus describes for the first time NHEJ as a mechanism involved in genomic rearrangements in the <it>LDLR </it>gene.</p
Análise da maturação óssea em pacientes de 13 a 20 anos de idade por meio de radiografias de punho
Asthma App Use and Interest Among Patients With Asthma: A Multicenter Study
info:eu-repo/semantics/publishedVersio
Verbal fluency in elderly with and without hypertension and diabetes from the FIBRA study in Ermelino Matarazzo
Estudo da sobrevida de pacientes submetidos a hemodiálise e estimativa de gastos no município de Ribeirão Preto-SP
Clinical and serological evolution in chronic Chagas disease patients in a 4-year pharmacotherapy follow-up: a preliminary study
Pressões respiratórias máximas de pico e sustentada na avaliação da força muscular respiratória de crianças
Acesso à informação em saúde e cuidado integral: percepção de usuários de um serviço público
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