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Tytuł :
Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8-year long observational study from a tertiary care university hospital.
Autorzy :
Santirocco M; Maternal-Fetal Medicine Department, Obstetrics Department, Vall d'Hebron Hospital Universitari, Barcelona, Spain.; Universitat Autònoma de Barcelona, Bellaterra, Spain.
Plaja A; Universitat Autònoma de Barcelona, Bellaterra, Spain.; Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, Vall d'Hebron Hospital Universitari, Barcelona, Spain.
Rodó C; Maternal-Fetal Medicine Department, Obstetrics Department, Vall d'Hebron Hospital Universitari, Barcelona, Spain.; Universitat Autònoma de Barcelona, Bellaterra, Spain.
Valenzuela I; Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, Vall d'Hebron Hospital Universitari, Barcelona, Spain.
Arévalo S; Maternal-Fetal Medicine Department, Obstetrics Department, Vall d'Hebron Hospital Universitari, Barcelona, Spain.; Universitat Autònoma de Barcelona, Bellaterra, Spain.
Castells N; Universitat Autònoma de Barcelona, Bellaterra, Spain.; Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, Vall d'Hebron Hospital Universitari, Barcelona, Spain.
Abuli A; Universitat Autònoma de Barcelona, Bellaterra, Spain.; Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, Vall d'Hebron Hospital Universitari, Barcelona, Spain.
Tizzano E; Universitat Autònoma de Barcelona, Bellaterra, Spain.; Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, Vall d'Hebron Hospital Universitari, Barcelona, Spain.
Maiz N; Maternal-Fetal Medicine Department, Obstetrics Department, Vall d'Hebron Hospital Universitari, Barcelona, Spain.; Universitat Autònoma de Barcelona, Bellaterra, Spain.
Carreras E; Maternal-Fetal Medicine Department, Obstetrics Department, Vall d'Hebron Hospital Universitari, Barcelona, Spain.; Universitat Autònoma de Barcelona, Bellaterra, Spain.
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Źródło :
Prenatal diagnosis [Prenat Diagn] 2020 Sep 14. Date of Electronic Publication: 2020 Sep 14.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
The Economic Impact and Health-Related Quality of Life of Spinal Muscular Atrophy. An Analysis across Europe.
Autorzy :
Peña-Longobardo LM; Department of Economic Analysis and Finance, University of Castilla-La Mancha, Cobertizo San Pedro Martir S/N, 45071 Toledo, Spain.
Aranda-Reneo I; Department of Economic Analysis and Finance, University of Castilla-La Mancha, 45600 Talavera de la Reina, Spain.
Oliva-Moreno J; Department of Economic Analysis and Finance, University of Castilla-La Mancha, Cobertizo San Pedro Martir S/N, 45071 Toledo, Spain.
Litzkendorf S; Centrer for Health Economics Research Hannover, Leibniz University Hannover, 30159 Hannover, Germany.
Durand-Zaleski I; Department of Research in Clinic of Health Economics, Université de Paris, CRESS, INSERM, INRA, 75000 Paris, France.
Tizzano E; Department of Clinical and Molecular Genetics and Medicine Genetics Group, Vall d'Hebron University Hospital, 08001 Barcelona, Spain.
López-Bastida J; Faculty of Health Science, Talavera de la Reina, University Castilla-La Mancha, 45600 Talavera de la Reina, Spain.
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Źródło :
International journal of environmental research and public health [Int J Environ Res Public Health] 2020 Aug 05; Vol. 17 (16). Date of Electronic Publication: 2020 Aug 05.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.
Autorzy :
Baz-Redón N; Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, España; Departamento de Pediatría, Obstetricia, Ginecología, Medicina Preventiva y Salud Pública, Universitat Autònoma de Barcelona, Barcelona, España.
Rovira-Amigo S; Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, España; Departamento de Pediatría, Obstetricia, Ginecología, Medicina Preventiva y Salud Pública, Universitat Autònoma de Barcelona, Barcelona, España; Sección de Alergología Pediátrica, Neumología Pediátrica y Fibrosis Quística, Hospital Universitari Vall d'Hebron, Barcelona, España.
Paramonov I; Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, España; Área de Genética Clínica y Molecular, Hospital Universitari Vall d'Hebron, Barcelona, España.
Castillo-Corullón S; Unidad de Neumología Pediátrica, Hospital Clínico Universitario de Valencia, Universidad de Valencia, Valencia, España.
Cols Roig M; Sección de Neumología Infantil y Unidad de Fibrosis Quística, Hospital Sant Joan de Déu, Barcelona, España.
Antolín M; Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, España; Área de Genética Clínica y Molecular, Hospital Universitari Vall d'Hebron, Barcelona, España.
García Arumí E; Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, España; Área de Genética Clínica y Molecular, Hospital Universitari Vall d'Hebron, Barcelona, España; CIBER de Enfermedades raras, CIBERER, Instituto de Salud Carlos III (ISCIII), Madrid, España.
Torrent-Vernetta A; Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, España; Departamento de Pediatría, Obstetricia, Ginecología, Medicina Preventiva y Salud Pública, Universitat Autònoma de Barcelona, Barcelona, España; Sección de Alergología Pediátrica, Neumología Pediátrica y Fibrosis Quística, Hospital Universitari Vall d'Hebron, Barcelona, España.
de Mir Messa I; Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, España; Sección de Alergología Pediátrica, Neumología Pediátrica y Fibrosis Quística, Hospital Universitari Vall d'Hebron, Barcelona, España.
Gartner S; Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, España; Sección de Alergología Pediátrica, Neumología Pediátrica y Fibrosis Quística, Hospital Universitari Vall d'Hebron, Barcelona, España.
Iglesias Serrano I; Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, España; Sección de Alergología Pediátrica, Neumología Pediátrica y Fibrosis Quística, Hospital Universitari Vall d'Hebron, Barcelona, España.
Caballero-Rabasco MA; Unidad de Neumología Pediátrica, Hospital del Mar, Barcelona, España.
Asensio de la Cruz Ó; Unidad de Neumología Pediátrica, Hospital Parc Taulí, Sabadell, Barcelona, España.
Vizmanos-Lamotte G; Servicio de Pediatría, Pôle Pédiatrique de Cerdagne - ALEFPA, Osséja, Francia.
Martín de Vicente C; Unidad de Neumología Pediátrica, Hospital Miguel Servet, Zaragoza, España.
Martínez-Colls MDM; Unidad de Neumología Pediátrica, Hospital Germans Trias i Pujol, Badalona, Barcelona, España.
Reula A; Grupo de Biomedicina Molecular, Celular y Genómica, IIS La Fe, Universidad de Valencia, Valencia, España.
Escribano A; Unidad de Neumología Pediátrica, Hospital Clínico Universitario de Valencia, Universidad de Valencia, Valencia, España; Departamento de Fisiología, Universidad de Valencia, Valencia, España.
Dasí F; Departamento de Fisiología, Universidad de Valencia, Valencia, España; UCIM, Instituto de Investigación Sanitaria INCLIVA, Valencia, España.
Armengot-Carceller M; Grupo de Biomedicina Molecular, Celular y Genómica, IIS La Fe, Universidad de Valencia, Valencia, España; Servicio de Otorrinolaringología, Hospital Universitario y Politécnico La Fe, Valencia, España; CIBER de Enfermedades Respiratorias, CIBERES, Instituto de Salud Carlos III (ISCIII), Madrid, España.
Polverino E; Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, España; Servicio de Neumología, Hospital Universitario Vall d'Hebron, Barcelona, España.
Amengual Pieras E; Hospital de Son Llàtzer, Palma de Mallorca, Baleares, España.
Amaro-Rodríguez R; Servicio de Neumología, Hospital Clínic, Barcelona, España.
Garrido-Pontnou M; Servicio de Anatomía Patológica, Hospital Universitari Vall d'Hebron, Barcelona, España.
Tizzano E; Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, España; Área de Genética Clínica y Molecular, Hospital Universitari Vall d'Hebron, Barcelona, España.
Camats-Tarruella N; Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, España; CIBER de Enfermedades raras, CIBERER, Instituto de Salud Carlos III (ISCIII), Madrid, España.
Fernández-Cancio M; Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, España; CIBER de Enfermedades raras, CIBERER, Instituto de Salud Carlos III (ISCIII), Madrid, España.
Moreno-Galdó A; Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Barcelona, España; Departamento de Pediatría, Obstetricia, Ginecología, Medicina Preventiva y Salud Pública, Universitat Autònoma de Barcelona, Barcelona, España; Sección de Alergología Pediátrica, Neumología Pediátrica y Fibrosis Quística, Hospital Universitari Vall d'Hebron, Barcelona, España; CIBER de Enfermedades raras, CIBERER, Instituto de Salud Carlos III (ISCIII), Madrid, España. Electronic address: .
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Transliterated Title :
Implementación de un panel de genes para el diagnóstico genético de la discinesia ciliar primaria.
Źródło :
Archivos de bronconeumologia [Arch Bronconeumol] 2020 Apr 03. Date of Electronic Publication: 2020 Apr 03.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Autorzy :
Pascual-Alonso A; Fundación San Juan de Dios, Servicio de Medicina Genética y Molecular, Barcelona, Spain.
Blasco L; Fundación San Juan de Dios, Servicio de Medicina Genética y Molecular, Barcelona, Spain.
Vidal S; Fundación San Juan de Dios, Servicio de Medicina Genética y Molecular, Barcelona, Spain.
Gean E; Departamento de Medicina Genética y Molecular, Hospital Universitario San Juan de Dios, Barcelona, Spain.
Rubio P; Departamento de Medicina Genética y Molecular, Hospital Universitario San Juan de Dios, Barcelona, Spain.
O'Callaghan M; Departamento de Neurología Pediátrica, Hospital Universitario San Juan de Dios, Barcelona, Spain.
Martínez-Monseny AF; Departamento de Medicina Genética y Molecular, Hospital Universitario San Juan de Dios, Barcelona, Spain.
Castells AA; Fundación San Juan de Dios, Servicio de Medicina Genética y Molecular, Barcelona, Spain.; Neural Development Lab, Departament de Patologia i Terapèutica Experimental, Institut de Neurociències, Universitat de Barcelona, IDIBELL, l'Hospitalet de Llobregat, Barcelona, Spain.
Xiol C; Fundación San Juan de Dios, Servicio de Medicina Genética y Molecular, Barcelona, Spain.
Català V; Unitad de Biología Celular y Genética Médica, Departament of BCFyI, Universidad Autónoma de Barcelona, Barcelona, Spain.
Brandi N; Servicio de Medicina Genètica i Molecular, Hospital Universitario San Juan de Dios, Barcelona, Spain.
Pacheco P; Servicio de Medicina Genètica i Molecular, Hospital Universitario San Juan de Dios, Barcelona, Spain.
Ros C; Servicio de Medicina Genètica i Molecular, Hospital Universitario San Juan de Dios, Barcelona, Spain.
Del Campo M; Pediatrics, Genetic Epidemiology, Hospital Valle Hebrón, Barcelona, Spain.
Guillén E; Unidad de Genética, Hospital Virgen de la Arrixaca, Murcia, Spain.
Ibañez S; Unidad de Genética, Hospital Virgen de la Arrixaca, Murcia, Spain.
Sánchez MJ; Unidad de Genética, Hospital Virgen de la Arrixaca, Murcia, Spain.
Lapunzina P; Instituto de Genética Médica y Molecular, Hospital Universitario La Paz, Madrid, Spain.; CIBERER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain.
Nevado J; Instituto de Genética Médica y Molecular, Hospital Universitario La Paz, Madrid, Spain.; CIBERER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain.
Santos F; Instituto de Genética Médica y Molecular, Hospital Universitario La Paz, Madrid, Spain.
Lloveras E; Departamento de Genètica, LABCO-Iberia, Barcelona, Spain.
Ortigoza-Escobar JD; Departamento de Neurología Pediátrica, Hospital Universitario San Juan de Dios, Barcelona, Spain.
Tejada MI; CIBERER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain.; Laboratorio de Genética Molecular, Servicio de Genética, Instituto de Investigación Sanitaria Biocruces, Hospital Universitario de Cruces, Barakaldo, Spain.
Maortua H; CIBERER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain.; Laboratorio de Genética Molecular, Servicio de Genética, Instituto de Investigación Sanitaria Biocruces, Hospital Universitario de Cruces, Barakaldo, Spain.
Martínez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Orellana C; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Roselló M; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Mesas MA; Gastroenterologia, Hospital Xanit, Málaga, Spain.
Obón M; Area de Genètica Clínica i Consell Genètic, Laboratoris ICS, Girona, Spain.
Plaja A; Institut de Recerca (VHIR), Universitat Autònoma de Barcelona, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Fernández-Ramos JA; Unidad de Neuropediatría, Hospital Universitario Reina Sofía, Córdoba, Spain.
Tizzano E; Area Genética Clínica y Molecular, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Marín R; Hospital Universitario Puerta del Mar Unidad de Genética, Cádiz, Spain.
Peña-Segura JL; Unidad de Neuropediatría, Hospital Universitario Miguel Servet, Zaragoza, Spain.
Alcántara S; Neural Development Lab, Departament de Patologia i Terapèutica Experimental, Institut de Neurociències, Universitat de Barcelona, IDIBELL, l'Hospitalet de Llobregat, Barcelona, Spain.
Armstrong J; Servicio de Medicina Genètica i Molecular, Hospital Universitario San Juan de Dios, Barcelona, Spain.; CIBERER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain.; Institut de Recerca Pediàtrica, Hospital Sant Joan de Déu, Barcelona, Spain.
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Źródło :
Clinical genetics [Clin Genet] 2020 Apr; Vol. 97 (4), pp. 610-620. Date of Electronic Publication: 2020 Feb 23.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Czasopismo naukowe
Tytuł :
RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design.
Autorzy :
Finkel RS; Department of Pediatrics, Division of Neurology, Nemours Children's Hospital, Orlando, FL, United States.
Day JW; Department of Neurology, Stanford University Medical Center, Stanford, CA, United States.
De Vivo DC; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, NY, United States.
Kirschner J; Clinic for Neuropediatrics and Muscle Disease, University Medical Center Freiburg, Freiburg, Germany.
Mercuri E; Department of Paediatric Neurology and Nemo Clinical Centre, Catholic University, Rome, Italy.
Muntoni F; Department of Developmental Neuroscience, University College London, London, UK.
Shieh PB; Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States.
Tizzano E; Department of Clinical and Molecular Genetics, Hospital Valle Hebron, Barcelona, Spain.
Desguerre I; Hôpital Necker Enfants Malades, APHP, Paris.
Quijano-Roy S; Garches Neuromuscular Reference Center (GNMH), APHP Raymond Poincare University Hospital (UVSQ), Garches, France.
Saito K; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
Droege M; AveXis, Inc., Bannockburn, IL, United States.
Dabbous O; AveXis, Inc., Bannockburn, IL, United States.
Khan F; AveXis, Inc., Bannockburn, IL, United States.
Renault L; AveXis, Switzerland GmbH, Zurich, Switzerland.
Anderson FA; Center for Outcomes Research, University of Massachusetts Medical School, Worcester, MA, United States.
Servais L; Oxford Neuromuscular Center, Oxford University, UK.
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Źródło :
Journal of neuromuscular diseases [J Neuromuscul Dis] 2020; Vol. 7 (2), pp. 145-152.
Typ publikacji :
Journal Article; Multicenter Study; Observational Study
MeSH Terms :
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/physiopathology
Muscular Atrophy, Spinal*/therapy
Registries*
Research Design*
Humans ; Prospective Studies ; Rare Diseases
Czasopismo naukowe
Tytuł :
Further delineation of the phenotype caused by loss of function mutations in PRMT7.
Autorzy :
Valenzuela I; Department of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d´Hebron, Barcelona, Spain. Electronic address: .
Segura-Puimedon M; Quantitative Genomic Medicine Laboratories, Ltd (qGenomics), Esplugues del Llobregat, Catalonia, Spain.
Rodríguez-Santiago B; Quantitative Genomic Medicine Laboratories, Ltd (qGenomics), Esplugues del Llobregat, Catalonia, Spain.
Fernández-Alvarez P; Department of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d´Hebron, Barcelona, Spain.
Vendrell T; Department of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d´Hebron, Barcelona, Spain.
Armengol L; Quantitative Genomic Medicine Laboratories, Ltd (qGenomics), Esplugues del Llobregat, Catalonia, Spain.
Tizzano E; Department of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d´Hebron, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2019 Mar; Vol. 62 (3), pp. 182-185. Date of Electronic Publication: 2018 Jul 10.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Loss of Function Mutation*
Phenotype*
Brachydactyly/*genetics
Dwarfism/*genetics
Intellectual Disability/*genetics
Protein-Arginine N-Methyltransferases/*genetics
Brachydactyly/pathology ; Dwarfism/pathology ; Humans ; Infant ; Intellectual Disability/pathology ; Male ; Syndrome
Czasopismo naukowe
Tytuł :
[Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis].
Autorzy :
Castells-Sarret N; Àrea de Genètica Clínica i Molecular, Hospital Vall d'Hebron, Barcelona, España; Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, España. Electronic address: .
Cueto-González AM; Àrea de Genètica Clínica i Molecular, Hospital Vall d'Hebron, Barcelona, España; Facultat de Medicina, Departament de Ciències Morfològiques, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, España.
Borregan M; Facultat de Medicina, Departament de Ciències Morfològiques, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, España.
López-Grondona F; Àrea de Genètica Clínica i Molecular, Hospital Vall d'Hebron, Barcelona, España.
Miró R; Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, España.
Tizzano E; Àrea de Genètica Clínica i Molecular, Hospital Vall d'Hebron, Barcelona, España; CIBERER, Barcelona, España.
Plaja A; Àrea de Genètica Clínica i Molecular, Hospital Vall d'Hebron, Barcelona, España; Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, España.
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Transliterated Title :
Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio.
Źródło :
Anales de pediatria (Barcelona, Spain : 2003) [An Pediatr (Barc)] 2018 Jul; Vol. 89 (1), pp. 3-11. Date of Electronic Publication: 2017 Sep 27.
Typ publikacji :
Journal Article
MeSH Terms :
Comparative Genomic Hybridization/*economics
Developmental Disabilities/*diagnosis
Developmental Disabilities/*economics
Intellectual Disability/*diagnosis
Intellectual Disability/*economics
Child ; Cost-Benefit Analysis ; Developmental Disabilities/genetics ; Humans ; Intellectual Disability/genetics
Czasopismo naukowe
Tytuł :
Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.
Autorzy :
Mates J; Cardiovascular Genetics Center, University of Girona-IdIBGi, Girona, Spain.
Mademont-Soler I; Cardiovascular Genetics Center, University of Girona-IdIBGi, Girona, Spain.; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.
Del Olmo B; Cardiovascular Genetics Center, University of Girona-IdIBGi, Girona, Spain.
Ferrer-Costa C; Gendiag.exe SL, Barcelona, Spain.
Coll M; Cardiovascular Genetics Center, University of Girona-IdIBGi, Girona, Spain.; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.
Pérez-Serra A; Cardiovascular Genetics Center, University of Girona-IdIBGi, Girona, Spain.; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.
Picó F; Cardiovascular Genetics Center, University of Girona-IdIBGi, Girona, Spain.
Allegue C; Cardiovascular Genetics Center, University of Girona-IdIBGi, Girona, Spain.
Fernandez-Falgueras A; Cardiovascular Genetics Center, University of Girona-IdIBGi, Girona, Spain.
Álvarez P; Gendiag.exe SL, Barcelona, Spain.
Yotti R; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.; Department of Cardiology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
Espinosa MA; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.; Department of Cardiology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
Sarquella-Brugada G; Arrhythmia Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
Cesar S; Arrhythmia Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
Carro E; Arrhythmia Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
Brugada J; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.; Arrhythmia Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.; Arrhythmia Unit, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain.
Arbelo E; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.; Arrhythmia Unit, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain.
Garcia-Pavia P; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.; Inherited Cardiac Diseases Unit. Department of Cardiology, Hospital Universitario Puerta de Hierro, Francisco de Vitoria University, Madrid, Spain.
Borregan M; Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Tizzano E; Hospital Universitari Vall d'Hebron, Barcelona, Spain.
López-Granados A; Hospital Universitario Reina Sofía, Córdoba, Spain.
Mazuelos F; Hospital Universitario Reina Sofía, Córdoba, Spain.
Díaz de Bustamante A; Genetics Unit, Hospital Universitario de Móstoles, Madrid, Spain.
Darnaude MT; Genetics Unit, Hospital Universitario de Móstoles, Madrid, Spain.
González-Hevia JI; Hospital Miguel Servet, Zaragoza, Spain.
Díaz-Flores F; Molecular DX Unit, Hospital Universitario de Canarias, Santa Cruz de Tenerife, Spain.
Trujillo F; Hospital Vírgen del Rocío, Sevilla, Spain.
Iglesias A; Cardiovascular Genetics Center, University of Girona-IdIBGi, Girona, Spain.; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.
Fernandez-Aviles F; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.; Department of Cardiology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
Campuzano O; Cardiovascular Genetics Center, University of Girona-IdIBGi, Girona, Spain.; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.; Medical Sciences Department, School of Medicine, University of Girona, Girona, Spain.
Brugada R; Cardiovascular Genetics Center, University of Girona-IdIBGi, Girona, Spain. .; Centro de Investigación Biomédica en Red. Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain. .; Medical Sciences Department, School of Medicine, University of Girona, Girona, Spain. .; Cardiovascular Genetics Unit, Hospital Universitari Dr. Josep Trueta, Girona, Spain. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2018 Jul; Vol. 26 (7), pp. 1014-1025. Date of Electronic Publication: 2018 Mar 06.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Arrhythmias, Cardiac/*genetics
Cardiomyopathies/*genetics
DNA Copy Number Variations/*genetics
Death, Sudden, Cardiac/*pathology
Adult ; Arrhythmias, Cardiac/epidemiology ; Arrhythmias, Cardiac/pathology ; Autopsy ; Cardiomyopathies/epidemiology ; Cardiomyopathies/pathology ; Death, Sudden, Cardiac/epidemiology ; Female ; Genetic Testing ; Heart/physiopathology ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Middle Aged ; Phenotype
Czasopismo naukowe
Tytuł :
Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS).
Autorzy :
Valenzuela I; Department of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d´Hebron, Barcelona, Spain. Electronic address: .
Fernández-Alvarez P; Department of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d´Hebron, Barcelona, Spain.
Plaja A; Department of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d´Hebron, Barcelona, Spain.
Ariceta G; Paediatric Nephrology Service, University Hospital Vall d´Hebron, Barcelona, Spain.
Sabaté-Rotés A; Paediatric Cardiology Service, University Hospital Vall d´Hebron, Barcelona, Spain.
García-Arumí E; Department of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d´Hebron, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain; Departament de Patologia Mitocondrial i Neuromuscular, Hospital Universitari Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.
Vendrell T; Department of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d´Hebron, Barcelona, Spain.
Tizzano E; Department of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d´Hebron, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain.
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2018 May; Vol. 61 (5), pp. 269-272. Date of Electronic Publication: 2018 Jan 04.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Hypotrichosis/*genetics
Lymphedema/*genetics
SOXF Transcription Factors/*genetics
Telangiectasis/*genetics
Child, Preschool ; Humans ; Hypotrichosis/pathology ; Lymphedema/pathology ; Male ; Mutation ; Syndrome ; Telangiectasis/pathology
Czasopismo naukowe
Tytuł :
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.
Autorzy :
Finkel RS; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Mercuri E; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Darras BT; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Connolly AM; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Kuntz NL; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Kirschner J; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Chiriboga CA; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Saito K; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Servais L; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Tizzano E; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Topaloglu H; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Tulinius M; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Montes J; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Glanzman AM; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Bishop K; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Zhong ZJ; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Gheuens S; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Bennett CF; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Schneider E; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
Farwell W; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
De Vivo DC; From the Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL (R.S.F.); the Department of Pediatric Neurology, Catholic University, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Boston (B.T.D.), and Biogen, Cambridge (Z.J.Z., S.G., W.F.) - both in Massachusetts; the Department of Neurology, St. Louis Children's Hospital, St. Louis (A.M.C.); the Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago (N.L.K.); the Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany (J.K.); the Departments of Neurology (C.A.C., J.M.) and Rehabilitation and Regenerative Medicine (J.M.), Columbia University, and the Departments of Neurology and Pediatrics, Columbia University Medical Center (D.C.D.V.), New York; the Institute of Medical Genetics and Department of Pediatrics, Tokyo Women's Medical University, Tokyo (K.S.); the Institute of Motion, Paris (L.S.); the Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER), Barcelona (E.T.); the Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey (H.T.); the Department of Pediatrics, Gothenburg University, Queen Silvia Children's Hospital, Gothenburg, Sweden (M.T.); the Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia (A.M.G.); and Ionis Pharmaceuticals, Carlsbad, CA (K.B., C.F.B., E.S.).
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Corporate Authors :
ENDEAR Study Group
Źródło :
The New England journal of medicine [N Engl J Med] 2017 Nov 02; Vol. 377 (18), pp. 1723-1732.
Typ publikacji :
Clinical Trial, Phase III; Journal Article; Multicenter Study; Randomized Controlled Trial
MeSH Terms :
Oligonucleotides/*therapeutic use
Oligonucleotides, Antisense/*therapeutic use
Spinal Muscular Atrophies of Childhood/*drug therapy
Age of Onset ; Disease-Free Survival ; Double-Blind Method ; Female ; Humans ; Infant ; Injections, Spinal ; Male ; Motor Skills ; Oligonucleotides/adverse effects ; Oligonucleotides, Antisense/adverse effects ; RNA, Messenger/drug effects ; RNA, Messenger/metabolism ; Respiration, Artificial ; Spinal Muscular Atrophies of Childhood/genetics ; Spinal Muscular Atrophies of Childhood/mortality ; Spinal Muscular Atrophies of Childhood/physiopathology ; Survival Analysis ; Survival of Motor Neuron 2 Protein/genetics ; Survival of Motor Neuron 2 Protein/metabolism
Czasopismo naukowe
Tytuł :
The clinical landscape for SMA in a new therapeutic era.
Autorzy :
Talbot K; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK.
Tizzano EF; Department of Clinical and Molecular Genetics, Rare Diseases Unit, Hospital Valle Hebron, Barcelona, Spain.; CIBERER, Barcelona, Spain.
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Źródło :
Gene therapy [Gene Ther] 2017 Sep; Vol. 24 (9), pp. 529-533. Date of Electronic Publication: 2017 Jul 23.
Typ publikacji :
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Therapy/*methods
Muscular Atrophy, Spinal/*therapy
Animals ; Genetic Testing/methods ; Genetic Therapy/trends ; Humans ; Muscular Atrophy, Spinal/diagnosis ; Muscular Atrophy, Spinal/genetics ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 1 Protein/metabolism ; Survival of Motor Neuron 2 Protein/genetics ; Survival of Motor Neuron 2 Protein/metabolism
Czasopismo naukowe
Tytuł :
Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain.
Autorzy :
López-Bastida J; Faculty of Occupational Therapy, Speech Therapy and Nursing, University of Castilla-La Mancha, Talavera de la Reina. Toledo, Spain.
Peña-Longobardo LM; Faculty of Law and Social Sciences, University of Castilla-La Mancha, Toledo, Spain. .
Aranda-Reneo I; Faculty of Law and Social Sciences, University of Castilla-La Mancha, Toledo, Spain.
Tizzano E; Department of Clinical and Molecular Genetics and CIBERER, Hospital Vall d'Hebron, Barcelona, Spain.
Sefton M; BiomedRed, Madrid, Spain.
Oliva-Moreno J; Faculty of Law and Social Sciences, University of Castilla-La Mancha, Toledo, Spain.
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2017 Aug 18; Vol. 12 (1), pp. 141. Date of Electronic Publication: 2017 Aug 18.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Muscular Atrophy, Spinal/*physiopathology
Child ; Child, Preschool ; Cost of Illness ; Cross-Sectional Studies ; Female ; Humans ; Male ; Muscular Atrophy, Spinal/economics ; Quality of Life ; Retrospective Studies ; Spain ; Surveys and Questionnaires
Czasopismo naukowe
Tytuł :
Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients.
Autorzy :
Fernández-Cancio M; Paediatric Endocrinology Unit, Vall d'Hebron Research Institute and Hospital, CIBERER, Autonomous University, Barcelona, Spain.
García-García E
González-Cejudo C
Martínez-Maestre MA
Mangas-Cruz MA
Guerra-Junior G
Pandi de Mello M
Arnhold IJP
Nishi MY
Bilharinho Mendonça B
García-Arumí E
Audí L
Tizzano E
Carrascosa A
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Źródło :
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation [Sex Dev] 2017; Vol. 11 (2), pp. 70-77. Date of Electronic Publication: 2017 Apr 04.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alleles*
Siblings*
Mutation/*genetics
Steroid 17-alpha-Hydroxylase/*genetics
Adolescent ; Base Sequence ; Brazil ; Female ; Genotype ; Heterozygote ; Hormones/blood ; Humans ; Male ; Phenotype ; Spain ; Testis/pathology
Czasopismo naukowe
Tytuł :
Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina.
Autorzy :
Medrano S; Laboratorio de Biología Molecular, Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
Monges S; Servicio de Neurología, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
Gravina LP; Laboratorio de Biología Molecular, Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
Alías L; Servicio de Genética, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; CIBERER U-705, Barcelona, Spain.
Mozzoni J; Servicio de Kinesiología, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
Aráoz HV; Laboratorio de Biología Molecular, Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
Bernal S; Servicio de Genética, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; CIBERER U-705, Barcelona, Spain.
Moresco A; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
Chertkoff L; Laboratorio de Biología Molecular, Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
Tizzano E; Department of Clinical and Molecular Genetics, Hospital Valle Hebron, Barcelona, Spain; CIBERER U-705, Barcelona, Spain. Electronic address: .
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Źródło :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2016 Nov; Vol. 20 (6), pp. 910-917. Date of Electronic Publication: 2016 Jul 28.
Typ publikacji :
Journal Article
MeSH Terms :
Spinal Muscular Atrophies of Childhood/*genetics
Survival of Motor Neuron 1 Protein/*genetics
Adolescent ; Age of Onset ; Argentina ; Child ; Child, Preschool ; Cohort Studies ; Disease Progression ; Female ; Gene Dosage ; Genotype ; Humans ; Male ; Nerve Tissue Proteins/genetics ; Neuronal Apoptosis-Inhibitory Protein/genetics ; Phenotype ; Retrospective Studies ; Spinal Muscular Atrophies of Childhood/epidemiology ; Survival of Motor Neuron 2 Protein/genetics ; Young Adult
Czasopismo naukowe
Tytuł :
A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.
Autorzy :
Plaja A; x00C0;rea de Genx00E8;tica Clx00ED;nica i Molecular, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Castells N
Cueto-González AM
del Campo M
Vendrell T
Lloveras E
Izquierdo L
Borregan M
Rodríguez-Santiago B
Carrió A
Miró R
Tizzano E
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Źródło :
Cytogenetic and genome research [Cytogenet Genome Res] 2015; Vol. 146 (3), pp. 181-6. Date of Electronic Publication: 2015 Sep 18.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Fragile Sites*
Williams Syndrome/*genetics
Child, Preschool ; Comparative Genomic Hybridization ; Female ; Humans ; Male
Czasopismo naukowe
Tytuł :
Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene.
Autorzy :
Alías L; Servicio de Genética, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; CIBERER (U705), Barcelona, Spain.
Barceló MJ
Bernal S
Martínez-Hernández R
Also-Rallo E
Vázquez C
Santana A
Millán JM
Baiget M
Tizzano EF
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Źródło :
Clinical genetics [Clin Genet] 2014 May; Vol. 85 (5), pp. 470-5. Date of Electronic Publication: 2013 Jul 16.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Carrier Screening*
Gene Duplication/*genetics
Muscular Atrophy, Spinal/*diagnosis
Muscular Atrophy, Spinal/*genetics
Survival of Motor Neuron 1 Protein/*genetics
Child ; Female ; Genetic Counseling ; Heterozygote ; Humans ; Male ; Muscular Atrophy, Spinal/physiopathology ; Mutation ; Prenatal Diagnosis
Czasopismo naukowe
Tytuł :
Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.
Autorzy :
Bladen CL; MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK, .
Thompson R
Jackson JM
Garland C
Wegel C
Ambrosini A
Pisano P
Walter MC
Schreiber O
Lusakowska A
Jedrzejowska M
Kostera-Pruszczyk A
van der Pol L
Wadman RI
Gredal O
Karaduman A
Topaloglu H
Yilmaz O
Matyushenko V
Rasic VM
Kosac A
Karcagi V
Garami M
Herczegfalvi A
Monges S
Moresco A
Chertkoff L
Chamova T
Guergueltcheva V
Butoianu N
Craiu D
Korngut L
Campbell C
Haberlova J
Strenkova J
Alejandro M
Jimenez A
Ortiz GG
Enriquez GV
Rodrigues M
Roxburgh R
Dawkins H
Youngs L
Lahdetie J
Angelkova N
Saugier-Veber P
Cuisset JM
Bloetzer C
Jeannet PY
Klein A
Nascimento A
Tizzano E
Salgado D
Mercuri E
Sejersen T
Kirschner J
Rafferty K
Straub V
Bushby K
Verschuuren J
Beroud C
Lochmüller H
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Źródło :
Journal of neurology [J Neurol] 2014 Jan; Vol. 261 (1), pp. 152-63. Date of Electronic Publication: 2013 Oct 27.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
International Cooperation*
Muscular Atrophy, Spinal/*epidemiology
Registries/*statistics & numerical data
Adolescent ; Adult ; Age Factors ; Aged ; Australasia/epidemiology ; Child ; Child, Preschool ; Europe/epidemiology ; Female ; Health Surveys ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Muscular Atrophy, Spinal/physiopathology ; North America/epidemiology ; Young Adult
Czasopismo naukowe
Tytuł :
F8 gene dosage defects in atypical patients with severe haemophilia A.
Autorzy :
Venceslá Á; Department of Genetics, Hospital de Sant Pau, Barcelona and CIBERER U-705, Spain.
Baena M
Garrido RP
Núñez R
Velasco F
Rosell J
Villar A
Jiménez-Yuste V
Baiget M
Tizzano EF
Pokaż więcej
Źródło :
Haemophilia : the official journal of the World Federation of Hemophilia [Haemophilia] 2012 Sep; Vol. 18 (5), pp. 708-13. Date of Electronic Publication: 2012 May 23.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Gene Dosage*
Factor VIII/*genetics
Hemophilia A/*genetics
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; DNA Mutational Analysis ; Exons ; Gene Duplication ; Hemophilia A/complications ; Humans ; Klinefelter Syndrome/complications ; Klinefelter Syndrome/genetics ; Male ; Multiplex Polymerase Chain Reaction ; Pedigree ; Sequence Deletion ; Spain
Czasopismo naukowe
Tytuł :
[Hammersmith functional rating scale for children with spinal muscular atrophy. Validation of the Spanish version].
Autorzy :
Febrer A; Servicio de Rehabilitación y Medicina Física, Hospital Universitari Sant Joan de Déu, Barcelona, España. />Vigo M
Fagoaga J
Medina-Cantillo J
Rodríguez N
Tizzano E
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Transliterated Title :
Escala de valoración funcional de Hammersmith para niños con atrofia muscular espinal. Validación de la versión española.
Źródło :
Revista de neurologia [Rev Neurol] 2011 Dec 01; Vol. 53 (11), pp. 657-63.
Typ publikacji :
English Abstract; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Neuropsychological Tests*/standards
Neuropsychological Tests*/statistics & numerical data
Severity of Illness Index*
Spinal Muscular Atrophies of Childhood/*pathology
Spinal Muscular Atrophies of Childhood/*physiopathology
Child ; Child, Preschool ; Female ; Humans ; Language ; Male ; Reproducibility of Results ; Spain
Czasopismo naukowe
Tytuł :
The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor.
Autorzy :
Bernal S
Alías L
Barceló MJ
Also-Rallo E
Martínez-Hernández R
Gámez J
Guillén-Navarro E
Rosell J
Hernando I
Rodríguez-Alvarez FJ
Borrego S
Millán JM
Hernández-Chico C
Baiget M
Fuentes-Prior P
Tizzano EF
Pokaż więcej
Źródło :
Journal of medical genetics [J Med Genet] 2010 Sep; Vol. 47 (9), pp. 640-2. Date of Electronic Publication: 2010 Jun 24.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Phylogeny*
Muscular Atrophy, Spinal/*classification
Muscular Atrophy, Spinal/*genetics
Mutation/*genetics
Survival of Motor Neuron 2 Protein/*genetics
Adolescent ; Child ; Child, Preschool ; Female ; Homozygote ; Humans ; Male ; Phenotype ; Spain ; Survival of Motor Neuron 2 Protein/classification
Raport

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