Irma Lopez

Irma Lopez

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Irma Lopez

Irma Lopez

Publications by authors named "Irma Lopez"

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Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.

Hum Mol Genet 2016 Apr 28;25(8):1479-88. Epub 2016 Jan 28.

Department of Molecular and Human Genetics, Human Genome Sequencing Center, Structural and Computational Biology and Molecular Biophysics Graduate Program, The Verna and Marrs Mclean Department of Biochemistry and Molecular Biology and Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA,

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http://dx.doi.org/10.1093/hmg/ddw022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805308PMC
April 2016

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.

Invest Ophthalmol Vis Sci 2015 Dec;56(13):8297-305

The McGill Ocular Genetics Laboratory Paediatric Ophthalmology Division, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1167/iovs.15-17104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4699406PMC
December 2015

Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions.

Genet Med 2015 Apr 4;17(4):262-70. Epub 2014 Dec 4.

1] Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA [2] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA [3] Structural and Computational Biology and Molecular Biophysics Graduate Program, Baylor College of Medicine, Houston, Texas, USA [4] Program in Developmental Biology, Baylor College of Medicine, Houston, Texas, USA.

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http://www.nature.com/articles/gim2014174
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http://dx.doi.org/10.1038/gim.2014.174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385427PMC
April 2015

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.

Mol Genet Genomic Med 2015 Jan 15;3(1):14-29. Epub 2014 Sep 15.

McGill Ocular Genetics Laboratory, Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Centre Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/mgg3.109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299712PMC
January 2015

A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.

Invest Ophthalmol Vis Sci 2014 Sep 4;55(11):7147-58. Epub 2014 Sep 4.

Human Genetics Center, University of Texas Health Science Center, Houston, Texas, United States Department of Ophthalmology and Visual Sciences, University of Texas Health Science Center, Houston, Texas, United States.

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http://dx.doi.org/10.1167/iovs.14-15419DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4224580PMC
September 2014

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

Cell 2012 Aug;150(3):533-48

Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1016/j.cell.2012.06.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3433835PMC
August 2012

Evolution of dengue virus in Mexico is characterized by frequent lineage replacement.

Arch Virol 2010 Sep 15;155(9):1401-12. Epub 2010 Jun 15.

Centro de Investigaciones Sobre Enfermedades Infecciosas, Instituto Nacional de Salud Pública, Av. Universidad 655, Santa María Ahuacatitlan, Cuernavaca, Morelos, México.

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http://dx.doi.org/10.1007/s00705-010-0721-1DOI Listing
September 2010

Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice.

Proc Natl Acad Sci U S A 2010 Aug 16;107(35):15523-8. Epub 2010 Aug 16.

Neurobiology-Neurodegeneration and Repair Laboratory, Biological Imaging Core, and Mechanisms of Retinal Diseases Section, Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1073/pnas.1002897107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2932565PMC
August 2010

Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.

Invest Ophthalmol Vis Sci 2010 May 3;51(5):2608-14. Epub 2009 Dec 3.

Department of Ophthalmology and Visual Sciences, University of Illinois Medical Center, Chicago, Illinois, USA.

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http://dx.doi.org/10.1167/iovs.09-3734DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2868490PMC
May 2010

Ultrastructural alterations during embryonic rats' lung development caused by ozone.

J Electron Microsc (Tokyo) 2008 Jan 14;57(1):19-23. Epub 2007 Dec 14.

Departamento de Biologia Celular y Tisular, Facultad de Medicina UNAM, Edificio A tercer piso, CP 04510, México City, Mexico.

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http://dx.doi.org/10.1093/jmicro/dfm033DOI Listing
January 2008

Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.

Clin Exp Ophthalmol 2007 Jul;35(5):473-85

McGill Ocular Genetics Center, McGill University Health Center, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1111/j.1442-9071.2007.01534.xDOI Listing
July 2007

Influenza vaccination in patients with breast cancer: a case-series analysis.

Med Sci Monit 2006 Aug 12;12(8):CR332-6. Epub 2006 Jul 12.

Department of Infectious Diseases, Instituto Nacional de Cancerología, Mexico City, Mexico.

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August 2006

[Immunogenicity and safety of the influenza vaccine, in a population older than 55-years in Mexico].

Salud Publica Mex 2005 Mar-Apr;47(2):155-62

Hospital Central Sur, Petróleos Mexicanos (Pemex), México, DF, México.

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June 2005

Single-cell gel electrophoresis assay of nasal epithelium and leukocytes from asthmatic and nonasthmatic subjects in Mexico City.

Arch Environ Health 2003 Jun;58(6):348-52

Department of Cell and Tissue Biology, Faculty of Medicine, Autonomous National University of Mexico, Mexico City, Mexico.

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June 2003