Marta Corton

Marta Corton

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Marta Corton

Marta Corton

Publications by authors named "Marta Corton"

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NHEJ-Mediated Repair of CRISPR-Cas9-Induced DNA Breaks Efficiently Corrects Mutations in HSPCs from Patients with Fanconi Anemia.

Cell Stem Cell 2019 Sep 17. Epub 2019 Sep 17.

Division of Hematopoietic Innovative Therapies, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT), Madrid 28040, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER-ISCIII), Madrid 28040, Spain; Advanced Therapies Unit, Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD/UAM), Madrid 28040, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.stem.2019.08.016DOI Listing
September 2019

Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.

Ophthalmology 2019 Aug 20;126(8):1181-1188. Epub 2019 Mar 20.

Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2019.03.018DOI Listing
August 2019

Expanded phenotypic spectrum of retinopathies associated with autosomal recessive and dominant mutations in PROM1.

Am J Ophthalmol 2019 May 23. Epub 2019 May 23.

Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2019.05.014DOI Listing
May 2019

Generation of gene-corrected human induced pluripotent stem cell lines derived from retinitis pigmentosa patient with Ser331Cysfs*5 mutation in MERTK.

Stem Cell Res 2019 01 16;34:101341. Epub 2018 Nov 16.

Stem Cells Therapies in Neurodegenerative Diseases Lab, Centro de Investigacion Principe Felipe (CIPF), Valencia, Spain; National Stem Cell Bank-Valencia Node, Proteomics, Genotyping and Cell Line Platform, PRB3, ISCIII, Research Centre Principe Felipe, c/Eduardo Primo Yúfera 3, 46012, Valencia, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.11.003DOI Listing
January 2019

Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1.

Stem Cell Res 2018 12 5;33:151-155. Epub 2018 Oct 5.

National Stem Cell Bank-Valencia Node, Proteomics, Genotyping and Cell Line Platform, PRB3, ISCIII, Research Centre Principe Felipe, c/ Eduardo Primo Yúfera 3, Valencia 46012, Spain; Stem Cells Therapies in Neurodegenerative Diseases Lab, Research Center Principe Felipe, c/Eduardo Primo Yúfera 3, Valencia 46012, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.10.012DOI Listing
December 2018

Identification of PITX3 mutations in individuals with various ocular developmental defects.

Ophthalmic Genet 2018 06 6;39(3):314-320. Epub 2018 Feb 6.

a UDEAR , Université de Toulouse, UMRS 1056 INSERM-Université Paul Sabatier , Toulouse , France.

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http://dx.doi.org/10.1080/13816810.2018.1430243DOI Listing
June 2018

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.

Invest Ophthalmol Vis Sci 2018 05;59(6):2345-2354

Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.

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http://dx.doi.org/10.1167/iovs.18-23854DOI Listing
May 2018

Generation of a human iPSC line from a patient with congenital glaucoma caused by mutation in CYP1B1 gene.

Stem Cell Res 2018 04 4;28:96-99. Epub 2018 Jan 4.

National Stem Cell Bank-Valencia Node, Biomolecular and Bioinformatics Resources Platform PRB2, ISCIII, Research Centre Principe Felipe, c/Eduardo Primo Yúfera 3, Valencia 46012, Spain; Department of Tissue Cultures and Stem Cells, Institute of Experimental Medicine, Academy of Science of the Czech Republic, Prague, Czech Republic; Stem Cells Therapies in Neurodegenerative Diseases Lab, Research Center Principe Felipe, c/Eduardo Primo Yufera 3, Valencia 46012, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.01.004DOI Listing
April 2018

Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg.

Stem Cell Res 2017 10 19;24:81-84. Epub 2017 Aug 19.

Departamento de Bioquímica, Facultad de Medicina, Universidad Autónoma de Madrid, Spain; Instituto de Investigaciones Biomédicas "Alberto Sols", UAM-CSIC, Madrid, Spain; Centro de Investigación Biomédica en Red (CIBERER), Madrid, Spain; Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2017.08.017DOI Listing
October 2017

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

PLoS One 2017 23;12(2):e0172363. Epub 2017 Feb 23.

Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital- Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0172363PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5322952PMC
August 2017

Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.

Invest Ophthalmol Vis Sci 2017 02;58(2):1045-1053

Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.

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http://dx.doi.org/10.1167/iovs.16-20515DOI Listing
February 2017

New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.

BMC Med Genet 2017 Jan 7;18(1). Epub 2017 Jan 7.

Department of Medical Genetics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz, (IIS-FJD, UAM), Madrid, Spain.

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http://dx.doi.org/10.1186/s12881-016-0364-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5219735PMC
January 2017

Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.

Br J Ophthalmol 2015 Oct 16;99(10):1360-5. Epub 2015 Apr 16.

Maladies Sensorielles Génétiques, CHRU, Montpellier, France INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France Université Montpellier 1, Montpellier, France Université Montpellier 2, Montpellier, France.

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http://dx.doi.org/10.1136/bjophthalmol-2014-306224DOI Listing
October 2015

Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families.

J Med Genet 2015 Aug 16;52(8):503-13. Epub 2015 Jun 16.

Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain Instituto de Investigación Biomédica Ourense-Pontevedra-Vigo (IBI), Vigo, Spain.

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http://dx.doi.org/10.1136/jmedgenet-2015-103099DOI Listing
August 2015

Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.

Invest Ophthalmol Vis Sci 2015 Apr;56(4):2173-82

Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain 2Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.

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http://dx.doi.org/10.1167/iovs.14-16178DOI Listing
April 2015

Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families.

Acta Ophthalmol 2015 Feb 18;93(1):e38-44. Epub 2014 Nov 18.

Department of Genetics, Health Research Institute Fundacion Jimenez Diaz, University Hospital (IIS-FJD, UAM), Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases CIBERER, ISCIII, Madrid, Spain.

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http://dx.doi.org/10.1111/aos.12486DOI Listing
February 2015

Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.

Invest Ophthalmol Vis Sci 2014 Oct 23;55(11):7562-71. Epub 2014 Oct 23.

Department of Genetics, Fundacion Jimenez Diaz University Hospital (IIS - FJD, UAM), Madrid, Spain Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain.

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http://dx.doi.org/10.1167/iovs.14-14938DOI Listing
October 2014

Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.

Biomed Res Int 2013 14;2013:517570. Epub 2013 Aug 14.

Department of Cellular Therapy and Regenerative Medicine, Andalusian Centre for Molecular Biology and Regenerative Medicine (CABIMER), 'Isla Cartuja', 41092 Seville, Spain.

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http://dx.doi.org/10.1155/2013/517570DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3759255PMC
April 2014

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

Ophthalmology 2014 Jan 18;121(1):399-407. Epub 2013 Oct 18.

Department of Genetics, IIS - Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2013.08.028DOI Listing
January 2014

Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.

Mol Vis 2012 3;18:1794-802. Epub 2012 Jul 3.

Departmento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain.

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http://www.molvis.org/molvis/v18/a185/mv-v18-a185-pineiro-ga
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413414PMC
December 2012

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.

Proc Natl Acad Sci U S A 2010 Apr 12;107(16):7401-6. Epub 2010 Apr 12.

Center for Statistical Genetics, Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1073/pnas.0912702107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2867722PMC
April 2010

Proteomic analysis of human omental adipose tissue in the polycystic ovary syndrome using two-dimensional difference gel electrophoresis and mass spectrometry.

Hum Reprod 2008 Mar 22;23(3):651-61. Epub 2007 Dec 22.

Instituto de Investigaciones Biomédicas, Consejo Superior de Investigaciones Científicas and Universidad Autónoma de Madrid, E-28029 Madrid, Spain.

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http://dx.doi.org/10.1093/humrep/dem380DOI Listing
March 2008

Proteomics and genomics: A hypothesis-free approach to the study of the role of visceral adiposity in the pathogenesis of the polycystic ovary syndrome.

Proteomics Clin Appl 2008 Mar;2(3):444-55

Department of Endocrinology, Hospital Ramón y Cajal and University of Alcalá, Madrid, Spain.

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http://dx.doi.org/10.1002/prca.200780031DOI Listing
March 2008

Searching urinary tumor markers for bladder cancer using a two-dimensional differential gel electrophoresis (2D-DIGE) approach.

J Proteome Res 2007 Nov 29;6(11):4440-8. Epub 2007 Sep 29.

Tumor Markers Group, Molecular Pathology Program, Spanish National Cancer Research Center, Madrid, Spain.

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http://dx.doi.org/10.1021/pr070368wDOI Listing
November 2007

Differential gene expression profile in omental adipose tissue in women with polycystic ovary syndrome.

J Clin Endocrinol Metab 2007 Jan 24;92(1):328-37. Epub 2006 Oct 24.

Instituto de Investigaciones Biomédicas, Consejo Superior de Investigaciones Científicas and Universidad Autónoma de Madrid, E-28029 Madrid, Spain.

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http://dx.doi.org/10.1210/jc.2006-1665DOI Listing
January 2007