Search Results - "Orera Clemente, María"
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INSIG2 rs7566605 single nucleotide variant and global DNA methylation index levels are associated with weight loss in a personalized weight reduction program
Published in Molecular medicine reports (01-01-2018)“…Single nucleotide polymorphisms associated with lipid metabolism and energy balance are implicated in the weight loss response caused by nutritional…”
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Clinical report of Bosma arhinia microphthalmia syndrome with a new variant on SMCHD1 gene. A case report
Published in Endocrinología, diabetes y nutrición. (01-03-2024)“…The Bosma syndrome (BAMS: Bosma arhinia microphthalmia syndrome) is a condition first described in 1972. Since then, several reviews have published the cases…”
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Prenatal diagnosis of Bardet–Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing
Published in Clinical case reports (01-04-2017)“…Key Clinical Message Bardet–Biedl syndrome (BBS) is a ciliopathy that is responsible for multiple visceral abnormalities. This disorder is defined by a…”
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Family history record and hereditary cancer risk perception according to National Cancer Institute criteria in a Spanish medical oncology service: a retrospective study
Published in Oncology (01-02-2012)“…Identification of patients at risk of hereditary cancer is an essential component of oncology practice, since it enables clinicians to offer early detection…”
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Recommendations regarding the genetic and immunological study of reproductive dysfunction
Published in Medicina clínica (English ed.) (22-08-2018)“…In this paper, several members of diverse scientific associations and reproduction experts from Spain have updated different genetic and immunological…”
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Oncología personalizada: principales biomarcadores en el pronóstico y tratamiento de tumores sólidos
Published in Revista del laboratorio clínico (01-07-2019)“…ResumenEn las últimas décadas ha habido grandes avances en los tratamientos personalizados en pacientes oncológicos gracias a un importante desarrollo…”
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El papel del laboratorio clínico en la medicina personalizada: situación actual y retos futuros
Published in Revista del laboratorio clínico (01-10-2018)“…Resumen La medicina personalizada, medicina de precisión o medicina individualizada ha sido definida como una manera de abordar el tratamiento y la prevención…”
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Recomendaciones para el estudio genético e inmunológico en la disfunción reproductiva
Published in Revista del laboratorio clínico (01-07-2019)“…ResumenVarios miembros de diferentes asociaciones científicas y expertos de la reproducción han actualizado las recomendaciones de estudio genético e…”
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Family history record and hereditary cancer risk perception after the creation of a heredofamilial cancer unit in a Spanish hospital
Published in Journal of clinical oncology (20-05-2012)“…Abstract only e12003 Background: A comprehensive family history and consideration of the criteria for hereditary cancer risk are essential for oncology…”
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Recomendaciones para el estudio genético de la pareja con alteraciones en la reproducción
Published in Revista del laboratorio clínico (2009)“…Resumen Con el fin de mejorar la atención y el seguimiento de la pareja con alteraciones en la reproducción, varias asociaciones científicas y expertos han…”
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Síndrome de Pitt-Rogers-Danks familiar: dos nuevos casos
Published in Revista de neurologiá (01-09-2001)Get full text
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