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Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.
De Nittis, Pasquelena; Efthymiou, Stephanie; Sarre, Alexandre; Guex, Nicolas; Chrast, Jacqueline; Putoux, Audrey; Sultan, Tipu; Raza Alvi, Javeria; Ur Rahman, Zia; Zafar, Faisal; Rana, Nuzhat; Rahman, Fatima; Anwar, Najwa; Maqbool, Shazia; Zaki, Maha S; Gleeson, Joseph G; Murphy, David; Galehdari, Hamid; Shariati, Gholamreza; Mazaheri, Neda; Sedaghat, Alireza; Lesca, Gaetan; Chatron, Nicolas; Salpietro, Vincenzo; Christoforou, Marilena; Houlden, Henry; Simonds, William F; Pedrazzini, Thierry; Maroofian, Reza; Reymond, Alexandre.
Afiliação
  • De Nittis P; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
  • Efthymiou S; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
  • Sarre A; Cardiovascular Assessment Facility, University of Lausanne, Lausanne, Switzerland.
  • Guex N; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.
  • Chrast J; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
  • Putoux A; Service de Génétique, Hopital Femme Mere Enfant, Bron, France.
  • Sultan T; Department of Pediatric Neurology, The Children's Hospital and Institute of Child Health, Lahore, Pakistan.
  • Raza Alvi J; Department of Pediatric Neurology, The Children's Hospital and Institute of Child Health, Lahore, Pakistan.
  • Ur Rahman Z; Department of Pediatric Neurology, The Children's Hospital and Institute of Child Health, Lahore, Pakistan.
  • Zafar F; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan.
  • Rana N; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan.
  • Rahman F; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore, Pakistan.
  • Anwar N; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore, Pakistan.
  • Maqbool S; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore, Pakistan.
  • Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Gleeson JG; Department of Neuroscience and Pediatrics, Howard Hughes Medical Institute, La Jolla, California, USA.
  • Murphy D; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
  • Galehdari H; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahwaz, Iran (the Islamic Republic of).
  • Shariati G; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jondishapour University of Medical Sciences, Ahvaz, Iran (the Islamic Republic of).
  • Mazaheri N; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahwaz, Iran (the Islamic Republic of).
  • Sedaghat A; Health Research Institute, Diabetes Research Center, Ahvaz Jundishapur University of medical Sciences, Ahvaz, Iran (the Islamic Republic of).
  • Lesca G; Service de Genetique, Hospices Civils de Lyon, Lyon, France.
  • Chatron N; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
  • Salpietro V; Service de Genetique, Hospices Civils de Lyon, Lyon, France.
  • Christoforou M; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
  • Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
  • Simonds WF; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
  • Pedrazzini T; Metabolic Diseases Branch/NIDDK, National Institutes of Health, Bethesda, MD, USA.
  • Maroofian R; Experimental Cardiology Unit, Department of Cardiovascular Medicine, University of Lausanne, Lausanne, Switzerland.
  • Reymond A; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
J Med Genet ; 58(12): 815-831, 2021 12.
Article em En | MEDLINE | ID: mdl-33172956
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Arritmias Cardíacas / Transdução de Sinais / Deficiências do Desenvolvimento / Subunidades beta da Proteína de Ligação ao GTP / Coração / Mutação Tipo de estudo: Clinical_trials Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Suíça
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Arritmias Cardíacas / Transdução de Sinais / Deficiências do Desenvolvimento / Subunidades beta da Proteína de Ligação ao GTP / Coração / Mutação Tipo de estudo: Clinical_trials Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Suíça