Carmen Ayuso

Carmen Ayuso

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Carmen Ayuso

Publications by authors named "Carmen Ayuso"

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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

Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.

Hum Mutat 2019 Aug 9. Epub 2019 Aug 9.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/humu.23890DOI Listing
August 2019

Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys.

Stem Cell Res 2019 Aug 29;40:101566. Epub 2019 Aug 29.

Grupo de investigación traslacional con células iPS, Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), Madrid, Spain; Centro de Investigación Biomédica en Red (CIBERER), Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101566DOI Listing
August 2019

Prospective evaluation of gadoxetic acid magnetic resonance for the diagnosis of hepatocellular carcinoma in newly detected nodules ≤2 cm in cirrhosis.

Liver Int 2019 Jul 28;39(7):1281-1291. Epub 2019 May 28.

Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Madrid, Spain.

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http://dx.doi.org/10.1111/liv.14133DOI Listing
July 2019

Reasons for and time to retraction of genetics articles published between 1970 and 2018.

J Med Genet 2019 Jul 12. Epub 2019 Jul 12.

Genetics and Genomics Department, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, (IIS-FJD, UAM), Madrid, Spain.

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http://dx.doi.org/10.1136/jmedgenet-2019-106137DOI Listing
July 2019

Time association between hepatitis C therapy and hepatocellular carcinoma emergence in cirrhosis: Relevance of non-characterized nodules.

J Hepatol 2019 May 24;70(5):874-884. Epub 2019 Jan 24.

Barcelona Clinic Liver Cancer (BCLC) Group, Liver Unit, Hospital Clinic Barcelona, IDIBAPS, University of Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jhep.2019.01.005DOI Listing
May 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

Corrigendum to "Diagnosis and staging of hepatocellular carcinoma (HCC): Current guidelines" [Eur. J. Radiol. 101 (2018) 72-81].

Eur J Radiol 2019 03 30;112:229. Epub 2019 Jan 30.

Barcelona Clinic Liver Cancer (BCLC) Group: Radiology Department, Hospital Clínic, University of Barcelona, CIBER ehd, Spain.

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http://dx.doi.org/10.1016/j.ejrad.2019.01.018DOI Listing
March 2019

Diagnosis of Hepatic Nodules in Patients at Risk for Hepatocellular Carcinoma: LI-RADS Probability Versus Certainty.

Gastroenterology 2019 03 15;156(4):860-862. Epub 2019 Feb 15.

BCLC Group, Radiology Department, Hospital Clínic, IDIBAPS, CIBEREHD, University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1053/j.gastro.2019.02.008DOI Listing
March 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

Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene.

Stem Cell Res 2018 08 2;31:152-156. Epub 2018 Aug 2.

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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https://linkinghub.elsevier.com/retrieve/pii/S18735061183019
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http://dx.doi.org/10.1016/j.scr.2018.08.002DOI Listing
August 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

Diagnosis and staging of hepatocellular carcinoma (HCC): current guidelines.

Eur J Radiol 2018 Apr 31;101:72-81. Epub 2018 Jan 31.

Barcelona Clinic Liver Cancer (BCLC) Group: Radiology Department. Hospital Clínic, University of Barcelona. CIBER ehd. Spain.

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http://dx.doi.org/10.1016/j.ejrad.2018.01.025DOI 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

Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects.

Sci Rep 2017 09 4;7(1):10391. Epub 2017 Sep 4.

Department of Genetics, IIS - Fundación Jiménez Díaz University Hospital (IIS-FJD, UAM). Avda. Reyes Católicos, 2, Madrid, 28040, Spain.

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http://dx.doi.org/10.1038/s41598-017-10912-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5583388PMC
September 2017

USH2A Gene Editing Using the CRISPR System.

Mol Ther Nucleic Acids 2017 Sep 12;8:529-541. Epub 2017 Aug 12.

Grupo de Investigación en Biomedicina Molecular, Celular y Genómica, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain; CIBER de Enfermedades Raras (CIBERER), Madrid, Spain; Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

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http://dx.doi.org/10.1016/j.omtn.2017.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5573797PMC
September 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

Comparison of three magnetic resonance enterography indices for grading activity in Crohn's disease.

J Gastroenterol 2017 May 6;52(5):585-593. Epub 2016 Sep 6.

Gastroenterology Department, Hospital Clínic de Barcelona, IDIBAPS, University of Barcelona, C/Villarroel 170 Escala 7 Planta 4, 08036, Barcelona, Spain.

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http://dx.doi.org/10.1007/s00535-016-1253-6DOI Listing
May 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

Conclusive HCC diagnosis with hepatocyte-specific contrast-enhanced magnetic resonance imaging? Not yet.

J Hepatol 2016 09 14;65(3):648-9. Epub 2016 Jun 14.

Barcelona Clinic Liver Cancer (BCLC) Group, Radiology Department, Hospital Clinic Barcelona, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, Barcelona, Spain; Network for Biomedical Research in Hepatic and Digestive Diseases (CIBERehd), Spain.

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https://linkinghub.elsevier.com/retrieve/pii/S01688278163026
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http://dx.doi.org/10.1016/j.jhep.2016.05.047DOI Listing
September 2016

Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity.

PLoS One 2016 19;11(1):e0146816. Epub 2016 Jan 19.

Departamento de Bioquímica, Instituto de Investigaciones Biomédicas "Alberto Sols" UAM-CSIC and Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0146816PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4718627PMC
July 2016

[Diagnosis and treatment of hepatocellular carcinoma. Update consensus document from the AEEH, SEOM, SERAM, SERVEI and SETH].

Med Clin (Barc) 2016 Jun 11;146(11):511.e1-511.e22. Epub 2016 Mar 11.

Unidad de Oncología Hepática (Barcelona Clinic Liver Cancer), Servicio de Hepatología, Hospital Clínic, Barcelona, IDIBAPS, Universidad de Barcelona, Barcelona, España; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), España. Electronic address:

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http://dx.doi.org/10.1016/j.medcli.2016.01.028DOI Listing
June 2016

Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability.

PLoS One 2015 18;10(3):e0119272. Epub 2015 Mar 18.

Área de Genética, Facultad de Medicina, Universidad de Castilla-La Mancha, Albacete, Spain; Instituto de Investigación en Discapacidades Neurológicas (IDINE), Universidad de Castilla-La Mancha, Albacete, Spain; Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality, Instituto de Salud Carlos III, Madrid, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0119272PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4364892PMC
March 2016

Attention deficit hyperactivity disorder: genetic association study in a cohort of Spanish children.

Behav Brain Funct 2016 Jan 8;12(1). Epub 2016 Jan 8.

Department of Genetics, IIS-Fundación Jiménez Díaz University Hospital (IIS-FJD, UAM), Avda. Reyes Católicos 2, 28040, Madrid, Spain.

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http://dx.doi.org/10.1186/s12993-015-0084-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706690PMC
January 2016

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

Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.

Mol Vis 2014 25;20:1398-410. Epub 2014 Sep 25.

Grupo de Investigación en Enfermedades Neurosensoriales, Instituto de Investigación Sanitaria La Fe (IIS-La Fe), Valencia, Spain ; CIBER de Enfermedades Raras (CIBERER), Madrid, Spain ; Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173666PMC
June 2015

Liver Imaging Reporting and Data System with MR Imaging: Evaluation in Nodules 20 mm or Smaller Detected in Cirrhosis at Screening US.

Radiology 2015 Jun 5;275(3):698-707. Epub 2015 Feb 5.

From the Department of Radiology, Barcelona Clinic Liver Cancer group, Hospital Clinic Barcelona, University of Barcelona, Spain (A.D., J.R., A.G.C., C.A.); Liver Unit, Barcelona Clinic Liver Cancer Group, Hospital Clinic Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer, University of Barcelona, c/Villarroel 170, Escala 7, Planta 3, 08036 Barcelona, Spain (A.F., M.R., J.B.); and Networked Biomedical Research Center in Hepatic and Liver Diseases, Barcelona, Spain (A.F., J.R., M.R., C.A., J.B.).

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http://dx.doi.org/10.1148/radiol.15141132DOI Listing
June 2015

Preserved outer retina in AIPL1 Leber's congenital amaurosis: implications for gene therapy.

Ophthalmology 2015 Apr 14;122(4):862-4. Epub 2015 Jan 14.

UCL Institute of Ophthalmology, University College London, London, UK; Moorfields Eye Hospital, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2014.11.019DOI Listing
April 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

Characterization of inflammation and fibrosis in Crohn's disease lesions by magnetic resonance imaging.

Am J Gastroenterol 2015 Mar 27;110(3):432-40. Epub 2015 Jan 27.

1] Department of Pathology-CDB, Hospital Clínic de Barcelona, IDIBAPS, University of Barcelona, Barcelona, Spain [2] Tumour Bank, Biobank Clinic, IDIBAPS, University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1038/ajg.2014.424DOI Listing
March 2015

Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients.

JAMA Ophthalmol 2015 Feb;133(2):157-64

Servicio de Genética, Instituto de Investigación-Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, Spain2Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.

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http://dx.doi.org/10.1001/jamaophthalmol.2014.4498DOI Listing
February 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

Lack of arterial hypervascularity at contrast-enhanced ultrasound should not define the priority for diagnostic work-up of nodules <2 cm.

J Hepatol 2015 Jan 27;62(1):150-5. Epub 2014 Aug 27.

Liver Unit, Barcelona Clinic Liver Cancer (BCLC) Group, Hospital Clinic Barcelona, IDIBAPS, University of Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jhep.2014.08.028DOI Listing
January 2015

Systemic therapy for hepatocellular carcinoma: the issue of treatment stage migration and registration of progression using the BCLC-refined RECIST.

Semin Liver Dis 2014 Nov 4;34(4):444-55. Epub 2014 Nov 4.

Barcelona Clinic Liver Cancer (BCLC) Group, Liver Unit, Hospital Clínic Barcelona, IDIBAPS, University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1055/s-0034-1394143DOI Listing
November 2014

Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

Orphanet J Rare Dis 2014 Nov 18;9:168. Epub 2014 Nov 18.

Grupo de Investigación en Enfermedades Neurosensoriales. Instituto de Investigación Sanitaria IIS-La Fe, Semisótano Escuela de Enfermería, Hospital Universitario La Fe, Avda. Campanar, 21, 46009, Valencia, Spain.

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http://dx.doi.org/10.1186/s13023-014-0168-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4245769PMC
November 2014

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

Early dermatologic adverse events predict better outcome in HCC patients treated with sorafenib.

J Hepatol 2014 Aug 2;61(2):318-24. Epub 2014 Apr 2.

Barcelona Clinic Liver Cancer (BCLC) Group, Liver Unit, Hospital Clínic Barcelona, IDIBAPS, University of Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01688278140021
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http://dx.doi.org/10.1016/j.jhep.2014.03.030DOI Listing
August 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

Reply to Townsend et al.

Eur J Hum Genet 2014 Jan 15;22(1). Epub 2013 May 15.

Clinical Research Program, Pasqual Maragall Foundation, Barcelona, Spain.

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http://dx.doi.org/10.1038/ejhg.2013.95DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865417PMC
January 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

The challenges of novel contrast agents for the imaging diagnosis of hepatocellular carcinoma.

Hepatol Int 2014 Jan 28;8(1):4-6. Epub 2013 Dec 28.

BCLC Group, Hepatic Oncology, Hospital Clínic, CIBEREHD, IDIBAPS, University of Barcelona, Villarroel 170, 08036, Barcelona, Spain.

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http://dx.doi.org/10.1007/s12072-013-9505-5DOI Listing
January 2014

Managing incidental genomic findings in clinical trials: fulfillment of the principle of justice.

PLoS Med 2014 Jan 14;11(1):e1001584. Epub 2014 Jan 14.

Department of Genetics, Health Research Institute-Jimenez Diaz Foundation University Hospital (IIS-FJD), Madrid, Spain ; CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Instituto de Salud Carlos III, Madrid, Spain.

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http://dx.doi.org/10.1371/journal.pmed.1001584DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3891615PMC
January 2014

Postprogression survival of patients with advanced hepatocellular carcinoma: rationale for second-line trial design.

Hepatology 2013 Dec 29;58(6):2023-31. Epub 2013 Oct 29.

Barcelona Clinic Liver Cancer (BCLC) Group, Liver Unit, Hospital Clínic Barcelona, IDIBAPS, University of Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Barcelona, Spain.

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http://dx.doi.org/10.1002/hep.26586DOI Listing
December 2013

CYP2D6 poor metabolizer status might be associated with better response to risperidone treatment.

Pharmacogenet Genomics 2013 Nov;23(11):627-30

Departments of aGenetics and Genomics bPsychiatry, IIS - Fundacion Jimenez Diaz University Hospital cCIBERER ISCIII dDepartment of Biology, Autonomous University of Madrid, CBMSO, CSIC eDepartment of Clinical Pharmacology, La Princesa University Hospital, IIS Princesa fCIBEREHD ISCIII gDepartment of Preventive Medicine, Public Health and Medical Immunology and Microbiology, School of Health Sciences, Rey Juan Carlos University hCIBERSAM ISCIII, Madrid iCICAB, Clinical Research Centre, Extremadura University Hospital and Medical School, Badajoz, Spain jDepartment of Psychiatry, Columbia University, New York, New York, USA.

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http://dx.doi.org/10.1097/FPC.0b013e3283659a94DOI Listing
November 2013

Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process.

Eur J Hum Genet 2013 Oct 16;21(10):1054-9. Epub 2013 Jan 16.

1] Department of Genetics, IIS-Jimenez Diaz Foundation (IIS-FJD), Madrid, Spain [2] Centre for Biomedical Network Research on Rare Diseases CIBERER ISCIII, Valencia, Spain.

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http://www.nature.com/articles/ejhg2012297
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http://dx.doi.org/10.1038/ejhg.2012.297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778336PMC
October 2013

Pharmacodynamic genetic variants related to antipsychotic adverse reactions in healthy volunteers.

Pharmacogenomics 2013 Jul;14(10):1203-14

Liver Unit, Gastroenterology Service, Hospital Universitario de La Princesa, Instituto de Investigación Sanitaria Princesa (IIS-IP), Diego de Leon 62, 3ª, 28006 Madrid, Spain.

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http://dx.doi.org/10.2217/pgs.13.106DOI Listing
July 2013