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Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
Kaustio, Meri; Nayebzadeh, Naemeh; Hinttala, Reetta; Tapiainen, Terhi; Åström, Pirjo; Mamia, Katariina; Pernaa, Nora; Lehtonen, Johanna; Glumoff, Virpi; Rahikkala, Elisa; Honkila, Minna; Olsén, Päivi; Hassinen, Antti; Polso, Minttu; Al Sukaiti, Nashat; Al Shekaili, Jalila; Al Kindi, Mahmood; Al Hashmi, Nadia; Almusa, Henrikki; Bulanova, Daria; Haapaniemi, Emma; Chen, Pu; Suo-Palosaari, Maria; Vieira, Päivi; Tuominen, Hannu; Kokkonen, Hannaleena; Al Macki, Nabil; Al Habsi, Huda; Löppönen, Tuija; Rantala, Heikki; Pietiäinen, Vilja; Zhang, Shen-Ying; Renko, Marjo; Hautala, Timo; Al Farsi, Tariq; Uusimaa, Johanna; Saarela, Janna.
Afiliação
  • Kaustio M; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
  • Nayebzadeh N; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center Oulu, University of Oulu, Oulu, Finland; Biocenter Oulu, Oulu, Finland.
  • Hinttala R; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center Oulu, University of Oulu, Oulu, Finland; Biocenter Oulu, Oulu, Finland.
  • Tapiainen T; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center Oulu, University of Oulu, Oulu, Finland; Biocenter Oulu, Oulu, Finland; Department of Pediatrics and Adolescent Medicine, Oulu University Hospital, Oulu, Finland.
  • Åström P; Research Unit of Biomedicine, University of Oulu, Oulu, Finland.
  • Mamia K; Centre for Molecular Medicine Norway (NCMM), University of Oslo, Oslo, Norway.
  • Pernaa N; Research Unit of Biomedicine, University of Oulu, Oulu, Finland.
  • Lehtonen J; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Centre for Molecular Medicine Norway (NCMM), University of Oslo, Oslo, Norway; Folkhälsan Research Center, Helsinki, Finland.
  • Glumoff V; Research Unit of Biomedicine, University of Oulu, Oulu, Finland.
  • Rahikkala E; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center Oulu, University of Oulu, Oulu, Finland; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland.
  • Honkila M; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center Oulu, University of Oulu, Oulu, Finland; Department of Pediatrics and Adolescent Medicine, Oulu University Hospital, Oulu, Finland.
  • Olsén P; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center Oulu, University of Oulu, Oulu, Finland; Department of Pediatrics and Adolescent Medicine, Oulu University Hospital, Oulu, Finland.
  • Hassinen A; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
  • Polso M; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
  • Al Sukaiti N; Department of Pediatric Allergy and Clinical Immunology, The Royal Hospital, Muscat, Oman.
  • Al Shekaili J; Department of Microbiology and Immunology, Sultan Qaboos University Hospital, Muscat, Oman.
  • Al Kindi M; Department of Microbiology and Immunology, Sultan Qaboos University Hospital, Muscat, Oman.
  • Al Hashmi N; Department of Clinical and Biochemical Genetics, The Royal Hospital, Muscat, Oman.
  • Almusa H; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
  • Bulanova D; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Biotech Research and Innovation Centre (BRIC), University of Copenhagen, Copenhagen, Denmark.
  • Haapaniemi E; Centre for Molecular Medicine Norway (NCMM), University of Oslo, Oslo, Norway; Department of Pediatric Research, Oslo University Hospital, Oslo, Norway; Research Programs Unit, Molecular Neurology and Biomedicum Stem Cell Centre, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
  • Chen P; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
  • Suo-Palosaari M; Medical Research Center Oulu, University of Oulu, Oulu, Finland; Department of Diagnostic Radiology, Oulu University Hospital and University of Oulu, Oulu, Finland; Research Unit of Medical Imaging, Physics and Technology, Faculty of Medicine, University of Oulu, Oulu, Finland.
  • Vieira P; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center Oulu, University of Oulu, Oulu, Finland; Department of Pediatrics and Adolescent Medicine, Oulu University Hospital, Oulu, Finland.
  • Tuominen H; Department of Pathology, Oulu University Hospital, Oulu, Finland.
  • Kokkonen H; Medical Research Center Oulu, University of Oulu, Oulu, Finland; Department of Clinical Genetics, Northern Finland Laboratory Centre, Oulu University Hospital, Oulu, Finland.
  • Al Macki N; Department of Pediatric Neurology, The Royal Hospital, Muscat, Oman.
  • Al Habsi H; Department of General Pediatrics, The Royal Hospital, Muscat, Oman.
  • Löppönen T; Department of Pediatrics, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland.
  • Rantala H; PEDEGO Research Unit, University of Oulu, Oulu, Finland.
  • Pietiäinen V; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
  • Zhang SY; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY; Paris Descartes University, Imagine Institute, Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Necker Hospital for Sick Chi
  • Renko M; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Department of Pediatrics, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland.
  • Hautala T; Research Unit of Biomedicine, University of Oulu, Oulu, Finland; Department of Internal Medicine, Oulu University Hospital, Oulu, Finland.
  • Al Farsi T; Department of Pediatric Allergy and Clinical Immunology, The Royal Hospital, Muscat, Oman.
  • Uusimaa J; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center Oulu, University of Oulu, Oulu, Finland; Department of Pediatrics and Adolescent Medicine, Oulu University Hospital, Oulu, Finland.
  • Saarela J; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland; Centre for Molecular Medicine Norway (NCMM), University of Oslo, Oslo, Norway; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway; Department of Clinical Genetics, Helsinki Univers
J Allergy Clin Immunol ; 148(2): 599-611, 2021 08.
Article em En | MEDLINE | ID: mdl-33662367
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Convulsões / Imunodeficiência Combinada Severa / Cegueira Cortical / Doenças Mitocondriais / Forminas / Microcefalia Tipo de estudo: Clinical_trials / Etiology_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male País/Região como assunto: Asia / Europa Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Convulsões / Imunodeficiência Combinada Severa / Cegueira Cortical / Doenças Mitocondriais / Forminas / Microcefalia Tipo de estudo: Clinical_trials / Etiology_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male País/Região como assunto: Asia / Europa Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2021 Tipo de documento: Article