Irene Valenzuela

Irene Valenzuela

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Irene Valenzuela

Irene Valenzuela

Publications by authors named "Irene Valenzuela"

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14Publications

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Further delineation of the phenotype caused by loss of function mutations in PRMT7.

Eur J Med Genet 2019 Mar 10;62(3):182-185. Epub 2018 Jul 10.

Department of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d´Hebron, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.07.007DOI Listing
March 2019

Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS).

Eur J Med Genet 2018 May 4;61(5):269-272. Epub 2018 Jan 4.

Department of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d´Hebron, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.ejmg.2018.01.001DOI Listing
May 2018

Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature.

Eur J Med Genet 2017 Oct 12;60(10):517-520. Epub 2017 Jul 12.

Paediatric Neurology Research Group, Vall d'Hebron University Hospital, Passeig Vall d'Hebrón 119-129, 08035 Barcelona, Spain; Autonomous University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.ejmg.2017.07.007DOI Listing
October 2017

Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

Eur J Med Genet 2017 Jun 24;60(6):303-307. Epub 2017 Mar 24.

Department of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d'Hebron, CIBERER, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.03.010DOI Listing
June 2017

Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer.

J Natl Cancer Inst 2016 Feb 18;108(2). Epub 2015 Nov 18.

Herbert Irving C omprehensive Cancer Center and Division of Digestive and Liver Diseases, Columbia University, Medical Center, New York, NY (FK); Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN (RPO); Department of Gastroenterology and Hepatology, Erasmus MC, Rotterdam, the Netherlands (CL); Statistical and Data Analysis Center, Harvard School Public Health, Boston, MA (CA); Population Sciences Division, Dana-Farber Cancer Institute, Boston, MA (RCM); Department of Oncology (JB) and Genetics Department (IV), University Hospital Vall d'Hebrón, Barcelona, Spain; Department of Gastroenterology, Hospital Clinic of Barcelona, IDIBAPS, CIBERehd, Barcelona, Spain (FB); Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St John's, NL, Canada (RG); Department of Health Sciences Research, Mayo Clinic, Scottsdale, AZ (NML); Division of Molecular Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN (SNT); Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA (PN); Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Parkville, Victoria, Australia (AKW, MJ, DDB); Unit of Hereditary Digestive Tract Tumors, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy (LB, PS); Clinical Cancer Genetics Program, Ohio State University Comprehensive Cancer Center, Columbus, OH (HH); Division of Gastroenterology, Brigham and Women's Hospital, Boston, MA (SS); Harvard Medical School, Boston, MA (SS); Department of Public Health, Erasmus Medical Center, Rotterdam, the Netherlands (EWS); Oncogenomics Group, Genetic Epidemiology Laboratory, The University of Melbourne, Parkville, Victoria, Australia (DDB).

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http://dx.doi.org/10.1093/jnci/djv308DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862416PMC
February 2016

Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.

Clin Chim Acta 2014 Nov 19;437:88-92. Epub 2014 Jul 19.

Xenética de enfermidades cardiovasculares e oftalmolóxicas, Instituto de Investigación Sanitaria de Santiago de Compostela, Complexo Hospitalario Universitario de Santiago de Compostela, 15706 Santiago de Compostela, A Coruña, Spain; Grupo de Medicina Xenómica IDIS-USC, Fundación Pública Galega de Medicina Xenómica, 15706 Santiago de Compostela, A Coruña, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2014.07.016DOI Listing
November 2014

Nonsyndromic familial aortic disease: an underdiagnosed entity.

Rev Esp Cardiol (Engl Ed) 2014 Oct 8;67(10):861-3. Epub 2014 Sep 8.

Servicio de Cardiología, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.rec.2014.06.003DOI Listing
October 2014

Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer.

Breast Cancer Res Treat 2013 Jun 27;139(2):597-602. Epub 2013 Apr 27.

Center for Molecular Genetic Diagnosis (CDGM)-IDIBELL, Gran Via de l'Hospitalet, 199, 08908, L'Hospitalet de Llobregat, Spain.

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http://link.springer.com/10.1007/s10549-013-2538-6
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http://dx.doi.org/10.1007/s10549-013-2538-6DOI Listing
June 2013