Zobrazeno 1 - 10 of 17 pro vyhledávání: '"López-Molina Mi"'
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Clinical Aspects of Usher Syndrome and the USH2A Gene in a Cohort of 433 Patients
Autor: Blanco-Kelly F, Jaijo T, Aller E, Avila-Fernandez A, López-Molina MI, Giménez A, García-Sandoval B, Millán JM, Ayuso C
Publikováno v: JAMA OPHTHALMOLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
IMPORTANCE A new statistical approach is needed to describe the clinical differences between type I and type II Usher syndrome and between the 2 most frequent mutations in the USH2A gene. OBJECTIVES To describe the primary phenotypic characteristics
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::6636172da1a032f0e00f4b191265ea8d
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=2300
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3
Estudio de prevalencia de retinopatía diabética en pacientes diabéticos mediante retinógrafo no midriático
Autor: López-Molina Mi, Teus Ma, Vleming En, Castro M
Publikováno v: Archivos de la Sociedad Española de Oftalmología. 84
espanolObjetivo: Conocer la prevalencia y gravedad de la retinopatia diabetica (RD) en una muestra poblacional de pacientes diabeticos del area sanitaria 3 mediante el empleo de camaras no midriaticas (CNM) y telemedicina. Metodos: Se incluyeron todo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1b8b47524718847aee33a702809be5e2
https://doi.org/10.4321/s0365-66912009000500003
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4
Akademický článek
Factors Associated With Fatigue in People With Spinal Cord Injury: A Systematic Review and Meta-analysis.
Autor: Onate-Figuérez A; FENNSI Group, National Hospital for Paraplegics, SESCAM, Spain; GIFTO Group, Faculty of Physiotherapy and Nursing, Universidad de Castilla La Mancha (UCLM), Toledo; National Hospital for Paraplegics, SESCAM, Toledo, Spain., Avendaño-Coy J; GIFTO Group, Faculty of Physiotherapy and Nursing, Universidad de Castilla La Mancha (UCLM), Toledo. Electronic address: juan.avendano@uclm.es., Fernández-Canosa S; FENNSI Group, National Hospital for Paraplegics, SESCAM, Spain., Soto-León V; FENNSI Group, National Hospital for Paraplegics, SESCAM, Spain., López-Molina MI; National Hospital for Paraplegics, SESCAM, Toledo, Spain., Oliviero A; FENNSI Group, National Hospital for Paraplegics, SESCAM, Spain.
Publikováno v: Archives of physical medicine and rehabilitation [Arch Phys Med Rehabil] 2023 Jan; Vol. 104 (1), pp. 132-142. Date of Electronic Publication: 2022 Aug 12.
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5
Akademický článek
Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa.
Autor: Corton M; Department of Genetics &Genomics, Health Research Institute-Jiménez Díaz Foundation University Hospital (IIS-FJD), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Avila-Fernández A; Department of Genetics &Genomics, Health Research Institute-Jiménez Díaz Foundation University Hospital (IIS-FJD), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Campello L; Department of Physiology, Genetics and Microbiology, University of Alicante, Alicante, Spain., Sánchez M; Department of Genetics &Genomics, Health Research Institute-Jiménez Díaz Foundation University Hospital (IIS-FJD), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Benavides B; Department of Genetics &Genomics, Health Research Institute-Jiménez Díaz Foundation University Hospital (IIS-FJD), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., López-Molina MI; Department of Ophthalmology, Health Research Institute- Jiménez Díaz Foundation University Hospital (IIS-FJD), Madrid, Spain., Fernández-Sánchez L; Department of Physiology, Genetics and Microbiology, University of Alicante, Alicante, Spain., Sánchez-Alcudia R; Department of Genetics &Genomics, Health Research Institute-Jiménez Díaz Foundation University Hospital (IIS-FJD), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., da Silva LRJ; Department of Genetics &Genomics, Health Research Institute-Jiménez Díaz Foundation University Hospital (IIS-FJD), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Universidade de Mogi das Cruzes, São Paulo, Brazil., Reyes N; Department of Genetics &Genomics, Health Research Institute-Jiménez Díaz Foundation University Hospital (IIS-FJD), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Martín-Garrido E; Department of Genetics &Genomics, Health Research Institute-Jiménez Díaz Foundation University Hospital (IIS-FJD), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Zurita O; Department of Genetics &Genomics, Health Research Institute-Jiménez Díaz Foundation University Hospital (IIS-FJD), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Fernández-San José P; Department of Genetics &Genomics, Health Research Institute-Jiménez Díaz Foundation University Hospital (IIS-FJD), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Pérez-Carro R; Department of Genetics &Genomics, Health Research Institute-Jiménez Díaz Foundation University Hospital (IIS-FJD), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., García-García F; Computational Genomics Department, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.; Bioinformatics in Rare Diseases (BIER), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Valencia, Spain., Dopazo J; Computational Genomics Department, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.; Bioinformatics in Rare Diseases (BIER), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Valencia, Spain.; Functional Genomics Node (INB), Valencia, Spain., García-Sandoval B; Department of Ophthalmology, Health Research Institute- Jiménez Díaz Foundation University Hospital (IIS-FJD), Madrid, Spain., Cuenca N; Department of Physiology, Genetics and Microbiology, University of Alicante, Alicante, Spain., Ayuso C; Department of Genetics &Genomics, Health Research Institute-Jiménez Díaz Foundation University Hospital (IIS-FJD), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
Publikováno v: Scientific reports [Sci Rep] 2016 Oct 13; Vol. 6, pp. 35370. Date of Electronic Publication: 2016 Oct 13.
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7
Akademický článek
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.
Autor: Perez-Carro R; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Corton M; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Sánchez-Navarro I; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Zurita O; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Sanchez-Bolivar N; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Sánchez-Alcudia R; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Lelieveld SH; Department of Human Genetics, Radboud university medical center, 6525 GA Nijmegen, The Netherlands., Aller E; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Grupo de Investigación en Enfermedades Neurosensoriales. Instituto de Investigación Sanitaria IIS-La Fe, Hospital Universitario La Fe, Valencia, Spain., Lopez-Martinez MA; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., López-Molina MI; Department of Ophthalmology, IIS-Fundacion Jimenez Diaz University Hospital, Madrid, Spain., Fernandez-San Jose P; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Blanco-Kelly F; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Riveiro-Alvarez R; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Gilissen C; Department of Human Genetics, Radboud university medical center, 6525 GA Nijmegen, The Netherlands., Millan JM; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Grupo de Investigación en Enfermedades Neurosensoriales. Instituto de Investigación Sanitaria IIS-La Fe, Hospital Universitario La Fe, Valencia, Spain., Avila-Fernandez A; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Ayuso C; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
Publikováno v: Scientific reports [Sci Rep] 2016 Jan 25; Vol. 6, pp. 19531. Date of Electronic Publication: 2016 Jan 25.
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8
Akademický článek
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
Autor: Almoguera B; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America., Li J; BGI-Shenzhen, Shenzhen 518083, China., Fernandez-San Jose P; Department of Genetics and Genomics, IIS-Fundacion Jimenez Diaz, 28040, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Liu Y; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America., March M; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America., Pellegrino R; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America., Golhar R; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America., Corton M; Department of Genetics and Genomics, IIS-Fundacion Jimenez Diaz, 28040, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Blanco-Kelly F; Department of Genetics and Genomics, IIS-Fundacion Jimenez Diaz, 28040, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., López-Molina MI; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain; Department of Ophthalmology, Fundacion Jimenez Diaz, 28040, Madrid, Spain., García-Sandoval B; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain; Department of Ophthalmology, Fundacion Jimenez Diaz, 28040, Madrid, Spain., Guo Y; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America., Tian L; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America., Liu X; BGI-Shenzhen, Shenzhen 518083, China., Guan L; BGI-Shenzhen, Shenzhen 518083, China., Zhang J; BGI-Shenzhen, Shenzhen 518083, China., Keating B; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America., Xu X; BGI-Shenzhen, Shenzhen 518083, China., Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America., Ayuso C; Department of Genetics and Genomics, IIS-Fundacion Jimenez Diaz, 28040, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
Publikováno v: PloS one [PLoS One] 2015 Jul 21; Vol. 10 (7), pp. e0133624. Date of Electronic Publication: 2015 Jul 21 (Print Publication: 2015).
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9
Akademický článek
New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.
Autor: Riveiro-Álvarez R; Department of Genetics, Instituto de Investigacion Sanitaria-University Hospital Fundacion Jimenez Diaz, Madrid, Spain2Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Xie YA; Department of Ophthalmology, Columbia University, New York, New York., López-Martínez MÁ; Department of Genetics, Instituto de Investigacion Sanitaria-University Hospital Fundacion Jimenez Diaz, Madrid, Spain2Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Pérez-Carro R; Department of Genetics, Instituto de Investigacion Sanitaria-University Hospital Fundacion Jimenez Diaz, Madrid, Spain2Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Ávila-Fernández A; Department of Genetics, Instituto de Investigacion Sanitaria-University Hospital Fundacion Jimenez Diaz, Madrid, Spain2Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., López-Molina MI; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain5Department of Ophthalmology, University Hospital Fundacion Jimenez Diaz, Madrid, Spain., Zernant J; Department of Ophthalmology, Columbia University, New York, New York., Jhangiani S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas., Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas., Gibbs R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas6Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas6Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas., Ayuso C; Department of Genetics, Instituto de Investigacion Sanitaria-University Hospital Fundacion Jimenez Diaz, Madrid, Spain2Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Allikmets R; Department of Ophthalmology, Columbia University, New York, New York7Department of Pathology and Cell Biology, Columbia University, New York, New York.
Publikováno v: JAMA ophthalmology [JAMA Ophthalmol] 2015 Feb; Vol. 133 (2), pp. 133-9.
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10
Akademický článek
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
Autor: Almoguera B; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. castillob@email.chop.edu., He S; College of Life Sciences, University of Chinese Academy of Sciences, Beijing, 100049, China. hesijie@genomics.cn.; BGI-Shenzhen, Shenzhen, 518083, China. hesijie@genomics.cn., Corton M; Department of Genetics and Genomics, IIS-Fundación Jiménez Díaz University Hospital (IISFJD, UAM), 28040, Madrid, Spain. mcorton@fjd.es.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. mcorton@fjd.es., Fernandez-San Jose P; Department of Genetics and Genomics, IIS-Fundación Jiménez Díaz University Hospital (IISFJD, UAM), 28040, Madrid, Spain. patricia.fernandez@fjd.es.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. patricia.fernandez@fjd.es., Blanco-Kelly F; Department of Genetics and Genomics, IIS-Fundación Jiménez Díaz University Hospital (IISFJD, UAM), 28040, Madrid, Spain. fblancok@fjd.es.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. fblancok@fjd.es., López-Molina MI; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. milopez@fjd.es.; Department of Ophthalmology, Fundación Jiménez Díaz, 28040, Madrid, Spain. milopez@fjd.es., García-Sandoval B; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. bgarcia@fjd.es.; Department of Ophthalmology, Fundación Jiménez Díaz, 28040, Madrid, Spain. bgarcia@fjd.es., Del Val J; Department of Neurology, Fundación Jiménez Díaz, 28040, Madrid, Spain. JdelVal@fjd.es., Guo Y; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. guoy@email.chop.edu., Tian L; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. tianl@email.chop.edu., Liu X; BGI-Shenzhen, Shenzhen, 518083, China. liuxuanzhu@genomics.cn., Guan L; BGI-Shenzhen, Shenzhen, 518083, China. guanliping@genomics.cn., Torres RJ; Department of Biochemistry, La Paz University Hospital IdiPaz, Madrid, 28046, Spain. rosa.torres@salud.madrid.org., Puig JG; Department of Internal Medicine, Metabolic-Vascular Unit, La Paz University Hospital IdiPaz, Madrid, 28046, Spain. juangarciapuig@gmail.com., Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. hakonarson@email.chop.edu., Xu X; BGI-Shenzhen, Shenzhen, 518083, China. xuxun@genomics.cn.; The Guangdong Enterprise Key Laboratory of Human Disease Genomics, Shenzhen, China. xuxun@genomics.cn., Keating B; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. bkeating@mail.med.upenn.edu., Ayuso C; Department of Genetics and Genomics, IIS-Fundación Jiménez Díaz University Hospital (IISFJD, UAM), 28040, Madrid, Spain. cayuso@fjd.es.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. cayuso@fjd.es.
Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2014 Dec 10; Vol. 9, pp. 190. Date of Electronic Publication: 2014 Dec 10.
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