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Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RETand SLC20A2
Autor:
Arteche-López, A., Álvarez-Mora, MI., Sánchez Calvin, MT., Lezana Rosales, JM., Palma Milla, C., Gómez Rodríguez, M. J., Gomez Manjón, I., Blázquez, A., Juarez Rufián, A., Ramos Gómez, P., Sierra Tomillo, O., Hidalgo Mayoral, I., Pérez de la Fuente, R., Posada Rodríguez, IJ., González Granado, LI., Martin, Miguel A., Quesada-Espinosa, JF., Moreno-García, M.
Publikováno v:
European Journal of Human Genetics: EJHG; 20210101, Issue: Preprints p1-7, 7p
Autor:
Bada-Bosch T; Department of Nephrology, Hospital Universitario 12 de Octubre, Madrid, Spain., Sevillano AM; Department of Nephrology, Hospital Universitario 12 de Octubre, Madrid, Spain., Sánchez-Calvin MT; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain., Palma-Milla C; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain., Alba de Cáceres I; Department of Radiology, Hospital Universitario 12 de Octubre, Madrid, Spain., Díaz-Crespo F; Department of Pathology, Hospital General Universitario, Gregorio Marañón, Madrid, Spain., Trujillo H; Department of Nephrology, Hospital Universitario 12 de Octubre, Madrid, Spain., Alonso M; Department of Pathology, Hospital Universitario 12 de Octubre, Madrid, Spain., Cases-Corona C; Department of Nephrology, Hospital Fundación Alcorcón, Madrid, Spain., Shabaka A; Department of Nephrology, Hospital Universitario La Paz, Madrid, Spain., Quesada-Espinosa JF; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain., Lezana-Rosales JM; Department of Genetics, Hospital Universitario 12 de Octubre, Madrid, Spain., Gutiérrez E; Department of Nephrology, Hospital Universitario 12 de Octubre, Madrid, Spain., Fernández-Juárez G; Department of Nephrology, Hospital Universitario La Paz, Madrid, Spain., Caravaca-Fontán F; Instituto de Investigación, Hospital Universitario 12 de Octubre, Madrid, Spain., Praga M; Department of Medicine, Complutense University, Madrid, Spain.; Nephrology Division, Hospital Universitario Quironsalud, Madrid, Spain.
Publikováno v:
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association [Nephrol Dial Transplant] 2024 Jul 31; Vol. 39 (8), pp. 1288-1298.
Autor:
Bellido-Cuéllar S; Epilepsy Unit, Neurology Department, 12 de Octubre University Hospital, Madrid, Spain. Electronic address: sara.bellidi@salu.madrid.org., Pérez de la Fuente R; Department of Genetics. UDISGEN-Unidad de Dismorfología y Genética, 12 de Octubre University Hospital, Madrid, Spain., Lezana-Rosales JM; Department of Genetics. UDISGEN-Unidad de Dismorfología y Genética, 12 de Octubre University Hospital, Madrid, Spain., Sánchez-Calvín MT; Department of Genetics. UDISGEN-Unidad de Dismorfología y Genética, 12 de Octubre University Hospital, Madrid, Spain., Saiz-Díaz RA; Epilepsy Unit, Neurology Department, 12 de Octubre University Hospital, Madrid, Spain., González de la Aleja J; Epilepsy Unit, Neurology Department, 12 de Octubre University Hospital, Madrid, Spain.
Publikováno v:
Seizure [Seizure] 2023 Aug; Vol. 110, pp. 117-118. Date of Electronic Publication: 2023 Jun 10.
Autor:
González-Quintana A; Servicio Bioquímica Clínica/Análisis Clínicos, Hospital 12 de Octubre, 28041 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.; Grupo de Enfermedades Mitocondriales y Neurometabólicas, Instituto de Investigación Hospital 12 de Octubre (imas12), 28041 Madrid, Spain., Garrido-Moraga R; Grupo de Enfermedades Mitocondriales y Neurometabólicas, Instituto de Investigación Hospital 12 de Octubre (imas12), 28041 Madrid, Spain., Palencia-Pérez SI; Departamento de Dermatología, Hospital Universitario 12 de Octubre y Universidad Complutense de Madrid, 28041 Madrid, Spain., Hernández-Martín Á; Departamento de Dermatología, Hospital Infantil Universitario Niño Jesús, 28009 Madrid, Spain., Sánchez-Munárriz J; Servicio Bioquímica Clínica/Análisis Clínicos, Hospital 12 de Octubre, 28041 Madrid, Spain., Lezana-Rosales JM; Servicio de Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UDisGen (Unidad de Dismorfología y Genética), Hospital 12 de Octubre, 28041 Madrid, Spain., Quesada-Espinosa JF; Servicio de Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UDisGen (Unidad de Dismorfología y Genética), Hospital 12 de Octubre, 28041 Madrid, Spain., Martín MA; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.; Grupo de Enfermedades Mitocondriales y Neurometabólicas, Instituto de Investigación Hospital 12 de Octubre (imas12), 28041 Madrid, Spain.; Servicio de Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UDisGen (Unidad de Dismorfología y Genética), Hospital 12 de Octubre, 28041 Madrid, Spain., Arteche-López A; Servicio de Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UDisGen (Unidad de Dismorfología y Genética), Hospital 12 de Octubre, 28041 Madrid, Spain.
Publikováno v:
Genes [Genes (Basel)] 2023 Jul 22; Vol. 14 (7). Date of Electronic Publication: 2023 Jul 22.
Autor:
Sheppard SE; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA., Bryant L; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wickramasekara RN; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.; Molecular Diagnostic Laboratory, Boys Town National Research Hospital, Omaha, NE, USA., Vaccaro C; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Robertson B; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA., Hallgren J; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA., Hulen J; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA., Watson CJ; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA., Faundes V; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile., Duffourd Y; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Lee P; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Simon MC; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., de la Cruz X; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.; Institució Catalana de Recerca I Estudis Avançats (ICREA), Barcelona, Spain., Padilla N; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain., Flores-Mendez M; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Akizu N; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Smiler J; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; 10x Genomics, Pleasanton, CA, USA., Pellegrino Da Silva R; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., March M; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Diaz-Rosado A; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Peixoto de Barcelos I; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Choa ZX; Epithelial Epigenetics and Development Laboratory, A*STAR Skin Research Labs, Singapore, Singapore.; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Lim CY; Epithelial Epigenetics and Development Laboratory, A*STAR Skin Research Labs, Singapore, Singapore.; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Dubourg C; Laboratoire de Génétique Moléculaire et Génomique, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France., Journel H; Service de Génétique Médicale, Hopital Chubert, Vannes, Bretagne, France., Demurger F; Department of Clinical Genetics, Service de Génétique Clinique, Centre de Référence Maladies Rares Centre Labellisé Anomalies du Développement-Ouest, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France., Mulhern M; Department of Pathology, Columbia University Irving Medical Center, New York, NY, USA.; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA., Akman C; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA., Lippa N; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Andrews M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Baldridge D; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Constantino J; Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands., Snoeck-Streef I; Department of Child Neurology, University Medical Center Utrecht, Utrecht, Netherlands., Chow P; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA., Hing A; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA., Graham JM Jr; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA, USA., Au M; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA, USA., Faivre L; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU Dijon, Bourgogne, France., Shen W; University of Utah, Salt Lake City, UT, USA.; Mayo Clinic, Rochester, MN, USA., Mao R; University of Utah, Salt Lake City, UT, USA., Palumbos J; University of Utah, Salt Lake City, UT, USA., Viskochil D; University of Utah, Salt Lake City, UT, USA., Gahl W; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Tifft C; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Macnamara E; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Hauser N; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA., Miller R; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA., Maffeo J; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA., Afenjar A; AP-HP, Sorbonne Université, Département de neuropediatrie, Hospital Armand Trousseau, Paris, France., Doummar D; AP-HP, Sorbonne Université, Département de neuropediatrie, Hospital Armand Trousseau, Paris, France., Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne Université, Paris, France., Arn P; Department of Pediatrics, Nemours Children's Specialty Care, Jacksonville, FL, USA., Macklin-Mantia S; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL, USA., Meerschaut I; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland., Brewer C; Clinical Genetics Department, Royal Devon and Exeter Hospital (Heavitree), Exeter EX1 2ED, UK., Saggar A; Clinical Genetics Department, St George's Hospital, St George's Healthcare NHS Trust, London SW17 0QT, UK., Smeland MF; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.; Department of Pediatric Rehabilitation, University Hospital of North Norway, Norway., Kumar A; Northeast Thames Regional Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK., Elmslie F; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK., Deshpande C; Department of Medical Genetics, Guy's Hospital, London SE1 9RT, UK., Nizon M; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes CEDEX 1, France., Cogne B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes CEDEX 1, France.; Nantes Université, CNRS, INSERM, L'institut du thorax, F-44000 Nantes, France., van Ierland Y; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands., Wilke M; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands., Koudijs S; Department of Neurology, Erasmus University Medical Center-Sophia Children's Hospital, P.O. Box 2040, 3000 CA Rotterdam, Netherlands., Chen JY; Neurology Department, Massachusetts General Hospital, Boston, MA, USA., Dredge D; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria., Pier D; Neurology Department, Massachusetts General Hospital, Boston, MA, USA., Wortmann S; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria.; Amalia Children's Hospital, RadboudUMC Nijmegen, Nijmegen, Netherlands., Kamsteeg EJ; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria., Koch J; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria., Haynes D; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA., Pollack L; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA., Titheradge H; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK., Ranguin K; Department of Genetics, Reference Centre for Rare Diseases and Developmental Anomalies, Caen Hospital, Caen, France., Denommé-Pichon AS; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France., Weber S; Department of Genetics, Reference Centre for Rare Diseases and Developmental Anomalies, Caen Hospital, Caen, France., Pérez de la Fuente R; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain., Sánchez Del Pozo J; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain., Lezana Rosales JM; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain., Joset P; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland., Steindl K; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland., Rauch A; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland.; University of Zurich, University Children's Hospital Zurich, 8032 Zurich, Switzerland.; University of Zurich, URPP Adaptive Brain Circuits in Development and Learning (AdaBD), Zurich, Switzerland.; University of Zurich Research Priority Program (URPP) AdaBD: Adaptive Brain Circuits in Development and Learning, Zurich 8006, Switzerland.; University of Zurich Research Priority Program (URPP) ITINERARE: Innovative Therapies in Rare Diseases, Zurich 8006, Switzerland., Mei D; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Mari F; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Guerrini R; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Lespinasse J; UF de Génétique Chromosomique, Centre Hospitalier de Chambéry, Hôtel-dieu, France., Tran Mau-Them F; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France., Philippe C; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France., Dauriat B; Service de cytogénétique et génétique médicale, Centre Hospitalier Universitaire de Limoges, France., Raymond L; Service de génétique, Laboratoire Eurofins Biomnis, Lyon, France., Moutton S; Service de génétique, Laboratoire Eurofins Biomnis, Lyon, France., Cueto-González AM; Hospital Vall d'Hebron, Barcelona, Spain.; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Mignot C; AP-HP, Sorbonne Université, Département de Génétique, Paris, France., Grotto S; AP-HP, Sorbonne Université, Département de Génétique, Paris, France., Renaldo F; AP-HP, Sorbonne Université, Département de neuropediatrie, Centre de référence neurogénétique, Hôpital Armand Trousseau, Paris, France., Drivas TG; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Hennessy L; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Raper A; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Parenti I; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Kaiser FJ; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Essener Zentrum für Seltene Erkrankungen (EZSE), Universitätsklinikum Essen, Essen, Germany., Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway., Islam L; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK., Siedlik JA; Department of Exercise Science and Pre-Health Professions, Creighton University, Omaha, NE, USA., Henderson LB; GeneDx, Gaithersburg, MD, USA., Juusola J; GeneDx, Gaithersburg, MD, USA., Person R; GeneDx, Gaithersburg, MD, USA., Schnur RE; GeneDx, Gaithersburg, MD, USA.; Department of Pediatrics, Division of Genetics Cooper Medical School of Rowan University Cooper University Health Care 3, Cooper Plaza, Camden, NJ, USA., Vitobello A; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France., Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Bhoj EJ; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Stessman HAF; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.
Publikováno v:
Science advances [Sci Adv] 2023 Mar 10; Vol. 9 (10), pp. eade1463. Date of Electronic Publication: 2023 Mar 10.
Autor:
Soengas-Gonda E; Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Mitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), Madrid, Spain.; UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, Spain., Pérez de la Fuente R; UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, Spain.; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain., Arteche-López A; UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, Spain.; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain., Gómez-Cano MLÁ; UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, Spain.; Department of Pediatrics, Endocrinology Unit, 12 de Octubre University Hospital, Madrid, Spain., Quesada-Espinosa JF; UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, Spain.; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain., Palma Milla C; UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, Spain.; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain., Lezana Rosales JM; UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, Spain.; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain., Mayo de Andrés S; UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, Spain.; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain., Sánchez-Calvín MT; UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, Spain.; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain., Gómez-Rodríguez MJ; UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, Spain.; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain., Sierra Tomillo O; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain., Juarez Rufian A; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain., Ramos Gomez P; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain., Herrero-Forte C; Clinical Genetics, Clinical Analysis Service, Molecular Diagnostics Unit, Institute of Laboratory Medicine (UDM-IML), Clinico San Carlos University Hospital, Madrid, Spain.; San Carlos Clinical Research Institute (IdISSC), Madrid, Spain., Fenollar-Cortés M; Clinical Genetics, Clinical Analysis Service, Molecular Diagnostics Unit, Institute of Laboratory Medicine (UDM-IML), Clinico San Carlos University Hospital, Madrid, Spain.; San Carlos Clinical Research Institute (IdISSC), Madrid, Spain., Cotarelo-Pérez C; Clinical Genetics, Clinical Analysis Service, Molecular Diagnostics Unit, Institute of Laboratory Medicine (UDM-IML), Clinico San Carlos University Hospital, Madrid, Spain.; San Carlos Clinical Research Institute (IdISSC), Madrid, Spain., García Ron A; Neuropaediatrics Unit, Child and Adolescent Institute, Clinico San Carlos University Hospital, Madrid, Spain., Pérez Rodríguez O; Department of Pediatrics, Clinico San Carlos University Hospital, Madrid, Spain., Oancea-Ionescu R; Clinical Genetics, Clinical Analysis Service, Molecular Diagnostics Unit, Institute of Laboratory Medicine (UDM-IML), Clinico San Carlos University Hospital, Madrid, Spain.; San Carlos Clinical Research Institute (IdISSC), Madrid, Spain., Moreno-García M; UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, Spain.; Department of Genetics, 12 de Octubre University Hospital, Madrid, Spain.
Publikováno v:
Neuropediatrics [Neuropediatrics] 2023 Feb; Vol. 54 (1), pp. 31-36. Date of Electronic Publication: 2022 Sep 20.
Autor:
Gómez-Rodríguez MJ; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; Network Center for Biomedical Research in Cancer (CIBERONC), 28029 Madrid, Spain., Morales-Conejo M; Internal Medicine Department, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Arteche-López A; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Sánchez-Calvín MT; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Quesada-Espinosa JF; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Gómez-Manjón I; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Palma-Milla C; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Lezana-Rosales JM; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Pérez de la Fuente R; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Martin-Ramos ML; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Fernández-Guijarro M; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Moreno-García M; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Alvarez-Mora MI; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; Department of Biochemistry and Molecular Genetic, Hospital Clínic de Barcelona, 08036 Barcelona, Spain.
Publikováno v:
Genes [Genes (Basel)] 2022 Sep 08; Vol. 13 (9). Date of Electronic Publication: 2022 Sep 08.
Autor:
Hidalgo Mayoral I; Genetics Department, Hospital Universitario 12 de Octubre, Madrid, Spain. Electronic address: irene.hidalgo@salud.madrid.org., Martínez-Salio A; Stroke Unit, Hospital Universitario 12 de Octubre, Madrid, Spain., Llamas-Velasco S; Neurology Service, Hospital Universitario 12 de Octubre, Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), Group of Neurodegenerative Diseases, Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain., Gómez-Majón I; Genetics Department, Hospital Universitario 12 de Octubre, Madrid, Spain., Arteche-López A; Genetics Department, Hospital Universitario 12 de Octubre, Madrid, Spain., Quesada-Espinosa JF; Genetics Department, Hospital Universitario 12 de Octubre, Madrid, Spain., Palma Milla C; Genetics Department, Hospital Universitario 12 de Octubre, Madrid, Spain., Lezana Rosales JM; Genetics Department, Hospital Universitario 12 de Octubre, Madrid, Spain., Pérez de la Fuente R; Genetics Department, Hospital Universitario 12 de Octubre, Madrid, Spain., Juárez Rufián A; Genetics Department, Hospital Universitario 12 de Octubre, Madrid, Spain., Sierra Tomillo O; Genetics Department, Hospital Universitario 12 de Octubre, Madrid, Spain., Sánchez Calvín MT; Genetics Department, Hospital Universitario 12 de Octubre, Madrid, Spain., Gómez Rodríguez MJ; Genetics Department, Hospital Universitario 12 de Octubre, Madrid, Spain., Ramos Gómez P; Genetics Department, Hospital Universitario 12 de Octubre, Madrid, Spain., Villarejo-Galende A; Neurology Service, Hospital Universitario 12 de Octubre, Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), Group of Neurodegenerative Diseases, Instituto de Investigación Hospital 12 de Octubre (i+12), Department of Medicine, Universidad Complutense, 28041, Madrid, Spain., Díaz-Guzmán J; Stroke Unit, Hospital Universitario 12 de Octubre, Madrid, Spain., Ortega-Casarrubios MÁ; Stroke Unit, Hospital Universitario 12 de Octubre, Madrid, Spain., Calleja-Castaño P; Stroke Unit, Hospital Universitario 12 de Octubre, Madrid, Spain., Moreno-García M; Genetics Department, Hospital Universitario 12 de Octubre, Madrid, Spain.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2022 Aug; Vol. 65 (8), pp. 104539. Date of Electronic Publication: 2022 Jun 12.
Autor:
Alvarez-Mora MI; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; Biochemistry and Molecular Genetic Service, Hospital Clínic de Barcelona, 08036 Barcelona, Spain., Blanco-Palmero VA; Neurology Department, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), 28031 Madrid, Spain.; Group of Neurodegenerative Diseases, Instituto de Investigación Hospital 12 de Octubre (i+12), 28041 Madrid, Spain., Quesada-Espinosa JF; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Arteche-Lopez AR; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Llamas-Velasco S; Neurology Department, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), 28031 Madrid, Spain.; Group of Neurodegenerative Diseases, Instituto de Investigación Hospital 12 de Octubre (i+12), 28041 Madrid, Spain., Palma Milla C; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Lezana Rosales JM; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Gomez-Manjon I; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Hernandez-Lain A; Neuropathology Unit, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Jimenez Almonacid J; Neuropathology Unit, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Gil-Fournier B; Genetic Service, Hospital Universitario de Getafe, 28905 Madrid, Spain., Ramiro-León S; Genetic Service, Hospital Universitario de Getafe, 28905 Madrid, Spain., González-Sánchez M; Neurology Department, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), 28031 Madrid, Spain.; Group of Neurodegenerative Diseases, Instituto de Investigación Hospital 12 de Octubre (i+12), 28041 Madrid, Spain., Herrero-San Martín AO; Neurology Department, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), 28031 Madrid, Spain.; Group of Neurodegenerative Diseases, Instituto de Investigación Hospital 12 de Octubre (i+12), 28041 Madrid, Spain., Pérez-Martínez DA; Neurology Department, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), 28031 Madrid, Spain.; Group of Neurodegenerative Diseases, Instituto de Investigación Hospital 12 de Octubre (i+12), 28041 Madrid, Spain., Gómez-Tortosa E; Neurology Department, Fundación Jiménez Díaz, 28040 Madrid, Spain., Carro E; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), 28031 Madrid, Spain.; Group of Neurodegenerative Diseases, Instituto de Investigación Hospital 12 de Octubre (i+12), 28041 Madrid, Spain., Bartolomé F; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), 28031 Madrid, Spain.; Group of Neurodegenerative Diseases, Instituto de Investigación Hospital 12 de Octubre (i+12), 28041 Madrid, Spain., Gomez-Rodriguez MJ; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; Network Center for Biomedical Research in Cancer (CIBERONC), 28029 Madrid, Spain., Sanchez-Calvin MT; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Villarejo-Galende A; Neurology Department, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; Group of Neurodegenerative Diseases, Instituto de Investigación Hospital 12 de Octubre (i+12), 28041 Madrid, Spain., Moreno-Garcia M; Genetic Service, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; UdisGen-Unidad de Dismorfología y Genética, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2022 Apr 11; Vol. 23 (8). Date of Electronic Publication: 2022 Apr 11.