Search Results - "Bouzas, C."
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Explaining the complex impact of the Covid-19 pandemic on children with overweight and obesity: a comparative ecological analysis of parents' perceptions in three countries
Published in BMC public health (17-05-2022)“…The Covid-19 pandemic has changed children's eating and physical activity behaviours. These changes have been positive for some households and negative for…”
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Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes
Published in The lancet oncology (01-01-2023)“…Truncating pathogenic or likely pathogenic variants of CDH1 cause hereditary diffuse gastric cancer (HDGC), a tumour risk syndrome that predisposes carrier…”
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The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome
Published in Clinical genetics (01-06-2016)“…Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also…”
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Excessive blood pressure increase with exercise and risk of all-cause mortality and cardiac events
Published in European journal of clinical investigation (01-10-2016)“…Background The association of an excessive blood pressure increase with exercise (EBPIE) on cardiovascular outcomes remains controversial. We sought to assess…”
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Research update for articles published in EJCI in 2016
Published in European journal of clinical investigation (01-10-2018)Get full text
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Association between the number of daily steps and the cardiovascular risk factors in basic education teachers
Published in Journal of sports medicine and physical fitness (01-05-2018)“…Regular physical activity is suggested as an important non-pharmacological mechanism to prevent cardiovascular diseases. Thus, the objective the present study…”
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Mitochondrial DNA haplogroup diversity in Basques: A reassessment based on HVI and HVII polymorphisms
Published in American journal of human biology (01-03-2008)“…This study provides a more complete characterization of the mitochondrial genome variability of the Basques, including data on the hypervariable segment HVII…”
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Health-related quality of life in individuals with metabolic syndrome: A cross-sectional study
Published in Semergen, medicina de familia (01-11-2020)“…Metabolic syndrome (MetS) is a combination of various cardiovascular risk factors with a major impact on morbidity and premature mortality. However, the impact…”
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Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the basque country with respect to the spanish population : implications for genetic counselling
Published in Breast cancer research and treatment (01-12-2007)“…The prevalence of unique and recurrent BRCA1 and BRCA2 pathogenic mutations and unclassified variants varies among different populations. Two hundred and…”
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Is early onset breast cancer with no family history a good criterion for testing BRCA1 and BRCA2 genes? A small population-based study
Published in Clinical genetics (01-06-2009)Get full text
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Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation
Published in Clinical genetics (01-08-2006)“…Rett syndrome (RTT) is an X‐linked progressive encephalopathy. Mutations in the MECP2 (methyl‐CpG‐binding protein) gene have been found to cause RTT. In the…”
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The Basques according to polymorphic Alu insertions
Published in Human genetics (01-08-2001)“…Polymorphic Alu insertions provide a set of DNA markers of interest in human population genetics. Approximately 1000-2000 of these insertions have not reached…”
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Exaggerated hypertensive response to exercise and myocardial ischaemia in patients with known or suspected coronary artery disease
Published in Revista clínica espanõla (English edition) (01-01-2018)“…The association between an exaggerated hypertensive response to exercise (EHRE) and the probability of ischaemia in stress tests is controversial. Our purpose…”
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A randomized controlled trial for overweight and obesity in preschoolers: the More and Less Europe study - an intervention within the STOP project
Published in BMC public health (15-07-2019)“…Childhood overweight and obesity is a serious public health issue with an increase being observed in preschool-aged children. Treating childhood obesity is…”
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Cytochrome b and HVI sequences of mitochondrial DNA to identify domestic animal hair in forensic casework
Published in International Congress series (2003)Get full text
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Genetic structure of autochthonous Basques through analysis of the HVI and HVII regions of mitochondrial DNA
Published in International Congress series (2003)Get full text
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An exaggerated increase in blood pressure with exercise does not predict mortality or severe cardiovascular events in women referred for exercise echocardiography for clinical reasons
Published in Revista clínica espanõla (English edition) (01-05-2020)“…BACKGROUND AND OBJECTIVESThe association between an exaggerated systolic blood pressure increase with exercise (EBPIE) and the probability of cardiovascular…”
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The MECP2 variant c. 925C >T (p. Arg309Trp ) causes intellectual disability in both males and females without classic features of Rett syndrome
Published in Clinical genetics (01-06-2016)“…Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome ( RTT ). In females, the phenotype can…”
Get full text
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1ISG-030 Economic impact of biological medicines on a third level hospital
Published in European journal of hospital pharmacy. Science and practice (01-03-2021)“…Background and importanceHigh costs of biological medicines (BM) are a financial issue for hospitals. The arrival of biosimilar drugs (BS) improved their…”
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