Laura Riba

Laura Riba

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Laura Riba

Laura Riba

Publications by authors named "Laura Riba"

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24Publications

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A Loss-of-Function Splice Acceptor Variant in Is Protective for Type 2 Diabetes.

Diabetes 2017 11 24;66(11):2903-2914. Epub 2017 Aug 24.

Broad Metabolism Program and Program in Medical and Population Genetics, Broad Institute, Cambridge, MA

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http://dx.doi.org/10.2337/db17-0187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5652606PMC
November 2017

The non-synonymous Arg230Cys variant (R230C) of the ATP-binding cassette transporter A1 is associated with low HDL cholesterol concentrations in Mexican adults: a population based nation wide study.

Atherosclerosis 2011 May 22;216(1):146-50. Epub 2011 Jan 22.

Departamento de Endocrinología y Metabolismo del Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Vasco de Quiroga 15, Mexico14000 DF, Mexico.

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http://dx.doi.org/10.1016/j.atherosclerosis.2010.10.049DOI Listing
May 2011

Evidence of how rs7575840 influences apolipoprotein B-containing lipid particles.

Arterioscler Thromb Vasc Biol 2011 May 10;31(5):1201-7. Epub 2011 Mar 10.

Department of Human Genetics, David Geffen School of Medicine at the University of California, Los Angeles, Gonda Center, Rm 6335B, 695 Charles E. Young Dr S, Los Angeles, CA 90095-7088, USA.

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http://dx.doi.org/10.1161/ATVBAHA.111.224139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3081410PMC
May 2011

Hypoalphalipoproteinemia in populations of Native American ancestry: an opportunity to assess the interaction of genes and the environment.

Curr Opin Lipidol 2009 Apr;20(2):92-7

Departamento de Endocrinología y Metabolismo del Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México DF, Mexico.

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April 2009

GENEHUNTER versus SimWalk2 in the context of an extended kindred and a qualitative trait locus.

Genetica 2005 Mar;123(3):235-44

Unidad de Biología Molecular y Medicina Genómica, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de Mexico, Mexico City, Mexico.

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http://dx.doi.org/10.1007/s10709-004-3215-9DOI Listing
March 2005

A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia.

Hum Genet 2005 Jan 17;116(1-2):114-20. Epub 2004 Nov 17.

Instituto de Investigaciones Biomédicas de la Universidad Nacional Autónoma de México e Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán", Vasco de Quiroga #15 Colonia Sección 16, Mexico City, 14000 Tlalpan, Mexico.

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http://dx.doi.org/10.1007/s00439-004-1192-9DOI Listing
January 2005

Steroid 21-hydroxylase (P450c21) naturally occurring mutants I172N, V281L and I236n/V237E/M239K exert a dominant negative effect on enzymatic activity when co-expressed with the wild-type protein.

J Pediatr Endocrinol Metab 2003 Sep;16(7):1017-24

Unidad de Biología Molecular y Medicina Genómica del Instituto de Investigaciones Biomédicas de la Universidad Nacional Autónoma de México y del Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.

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http://dx.doi.org/10.1515/jpem.2003.16.7.1017DOI Listing
September 2003