Search Results - "Arriaza, Marta"
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Learning approaches and high-impact educational practices at university: A proposal for a reduced scale of the student process questionnaire
Published in Innovations in education and teaching international (01-11-2024)“…Research on the relationship between learning approaches and variables such as the perceived impact of some university activities is limited. The present study…”
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A Single-Point Insulin Sensitivity Estimator (SPISE) of 5.4 is a good predictor of both metabolic syndrome and insulin resistance in adolescents with obesity
Published in Frontiers in endocrinology (Lausanne) (08-02-2023)“…The Single-Point Insulin Sensitivity Estimator (SPISE) is a biomarker of insulin sensitivity estimated using BMI and triglycerides and high-density lipoprotein…”
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Lessons from a 30 year follow‐up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them
Published in American journal of medical genetics. Part A (01-04-2021)“…At the 43rd annual meeting of the ASHG in 1993, the senior author reported monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaic…”
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Lessons from a 30year follow‐up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them
Published in American journal of medical genetics. Part A (01-04-2021)“…At the 43rd annual meeting of the ASHG in 1993, the senior author reported monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaic…”
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VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study
Published in Biological research (2009)“…Microdeletion 22q11 in humans causes velocardiofacial and DiGeorge syndromes. Most patients share a common 3Mb deletion, but the clinical manifestations are…”
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A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects
Published in Hormone research in paediatrics (01-01-2015)“…Deletions in the SHOX gene are the most frequent genetic cause of Leri-Weill syndrome and Langer mesomelic dysplasia, which are also present in idiopathic…”
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Alta prevalencia de hernias abdominales en pacientes con síndrome velocardiofacial
Published in Revista Chilena de pediatría (01-02-2012)“…El síndrome velocardiofacial (SVCF) se debe a una microdeleción en la región cromosómica 22q11.2. Clínicamente, se caracteriza por anomalías congénitas y…”
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Opitz GBBB syndrome and the 22q11.2 deletion
Published in American journal of medical genetics (29-03-1996)Get full text
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Ring 2 chromosome: Ten-year follow-up report
Published in American journal of medical genetics (16-07-1999)“…Côté et al. [1981: Ann Genet 24:231–235] suggested that ring chromosomes without a preceding deletion share a common pattern of phenotypic anomalies,…”
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Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome?
Published in American journal of medical genetics (21-05-1999)“…We report on concordantly affected female identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E. The…”
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Alta prevalencia de hernias abdominales en pacientes con síndrome velocardiofacial
Published in Revista Chilena de pediatría (01-02-2012)Get full text
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Angioedema y urticaria inducidos por ejercicio
Published in Revista Chilena de pediatría (01-05-1998)Get full text
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Angioedema y urticaria inducidos por ejercicio
Published in Revista Chilena de pediatría (01-05-1998)“…Dos niñas (13 y 14 años respectivamente) consultaron por síncope asociado a esfuerzos, una de ellas sufría urticaria provocada por el ejercicio y el agua fría…”
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