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Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Lardelli, Rea M; Schaffer, Ashleigh E; Eggens, Veerle R C; Zaki, Maha S; Grainger, Stephanie; Sathe, Shashank; Van Nostrand, Eric L; Schlachetzki, Zinayida; Rosti, Basak; Akizu, Naiara; Scott, Eric; Silhavy, Jennifer L; Heckman, Laura Dean; Rosti, Rasim Ozgur; Dikoglu, Esra; Gregor, Anne; Guemez-Gamboa, Alicia; Musaev, Damir; Mande, Rohit; Widjaja, Ari; Shaw, Tim L; Markmiller, Sebastian; Marin-Valencia, Isaac; Davies, Justin H; de Meirleir, Linda; Kayserili, Hulya; Altunoglu, Umut; Freckmann, Mary Louise; Warwick, Linda; Chitayat, David; Blaser, Susan; Çaglayan, Ahmet Okay; Bilguvar, Kaya; Per, Huseyin; Fagerberg, Christina; Christesen, Henrik T; Kibaek, Maria; Aldinger, Kimberly A; Manchester, David; Matsumoto, Naomichi; Muramatsu, Kazuhiro; Saitsu, Hirotomo; Shiina, Masaaki; Ogata, Kazuhiro; Foulds, Nicola; Dobyns, William B; Chi, Neil C; Traver, David; Spaccini, Luigina; Bova, Stefania Maria.
Afiliação
  • Lardelli RM; University of California San Diego, La Jolla, California, USA.
  • Schaffer AE; University of California San Diego, La Jolla, California, USA.
  • Eggens VR; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
  • Zaki MS; Department of Cellular and Molecular Medicine, Stem Cell Program and Institute for Genomic Medicine, University of California San Diego, La Jolla, California, USA.
  • Grainger S; Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands.
  • Sathe S; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Van Nostrand EL; Department of Cellular and Molecular Medicine, University of California San Diego, La Jolla, California, USA.
  • Schlachetzki Z; Department of Cellular and Molecular Medicine, Stem Cell Program and Institute for Genomic Medicine, University of California San Diego, La Jolla, California, USA.
  • Rosti B; Department of Cellular and Molecular Medicine, Stem Cell Program and Institute for Genomic Medicine, University of California San Diego, La Jolla, California, USA.
  • Akizu N; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
  • Scott E; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
  • Silhavy JL; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
  • Heckman LD; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
  • Rosti RO; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
  • Dikoglu E; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
  • Gregor A; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
  • Guemez-Gamboa A; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
  • Musaev D; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
  • Mande R; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
  • Widjaja A; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
  • Shaw TL; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
  • Markmiller S; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
  • Marin-Valencia I; University of California San Diego, La Jolla, California, USA.
  • Davies JH; Department of Cellular and Molecular Medicine, Stem Cell Program and Institute for Genomic Medicine, University of California San Diego, La Jolla, California, USA.
  • de Meirleir L; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
  • Kayserili H; Department of Paediatric Medicine, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Altunoglu U; Pediatric Neurology and Metabolic Diseases, Universitair Ziekenhuis Brussels, Vrije Universiteit Brussel, Brussels, Belgium.
  • Freckmann ML; Medical Genetics Department, Koc University School of Medicine, Istanbul, Turkey.
  • Warwick L; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul Turkey.
  • Chitayat D; Department of Clinical Genetics, The Canberra Hospital, Woden, Australian Capital Territory, Australia.
  • Blaser S; Australian Capital Territory Genetic Service, The Canberra Hospital, Canberra City, Australian Capital Territory, Australia.
  • Çaglayan AO; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Bilguvar K; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
  • Per H; Division of Neuroradiology, Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Fagerberg C; Department of Medical Genetics, School of Medicine, Istanbul Bilim University, Istanbul, Turkey.
  • Christesen HT; Yale Program on Neurogenetics, Departments of Neurosurgery, Neurobiology and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Kibaek M; Department of Genetics, Yale Center for Genome Analysis, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Aldinger KA; Division of Pediatric Neurology, Department of Pediatrics, Erciyes University School of Medicine, Kayseri, Turkey.
  • Manchester D; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Matsumoto N; Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
  • Muramatsu K; Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
  • Saitsu H; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
  • Shiina M; Department of Pediatrics, Clinical Genetics and Metabolism, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, Colorado, USA.
  • Ogata K; Department of Human Genetics, Yokohama City University, Graduate School of Medicine, Yokohama, Japan.
  • Foulds N; Department of Pediatrics, Gunma University School of Medicine, Showa-machi, Maebashi City, Japan.
  • Dobyns WB; Department of Human Genetics, Yokohama City University, Graduate School of Medicine, Yokohama, Japan.
  • Chi NC; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Traver D; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Spaccini L; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Bova SM; Southampton University Hospitals Trust, Southampton, UK.
Nat Genet ; 49(3): 457-464, 2017 Mar.
Article em En | MEDLINE | ID: mdl-28092684
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / RNA Nuclear Pequeno / Doenças Cerebelares / Exonucleases / Mutação Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / RNA Nuclear Pequeno / Doenças Cerebelares / Exonucleases / Mutação Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos