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Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Polla, Daniel L; Rahikkala, Elisa; Bode, Michaela K; Määttä, Tuomo; Varilo, Teppo; Loman, Thyrza; Philips, Anju K; Kurki, Mitja; Palotie, Aarno; Körkkö, Jarmo; Vieira, Päivi; Avela, Kristiina; Jacquemin, Valérie; Pirson, Isabelle; Abramowicz, Marc; de Brouwer, Arjan P M; Kuismin, Outi; van Bokhoven, Hans; Järvelä, Irma.
Affiliation
  • Polla DL; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Rahikkala E; CAPES Foundation, Ministry of Education of Brazil, Brasília, Brazil.
  • Bode MK; Department of Clinical Genetics, PEDEGO Research Unit and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.
  • Määttä T; Department of Diagnostic Radiology, Oulu University Hospital and Medical Research Center Oulu, Oulu, Finland.
  • Varilo T; Disability Services, Joint Authority for Kainuu, Kainuu, Finland.
  • Loman T; Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
  • Philips AK; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Kurki M; Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
  • Palotie A; Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Körkkö J; The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Vieira P; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
  • Avela K; Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Jacquemin V; The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Pirson I; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
  • Abramowicz M; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • de Brouwer APM; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
  • Kuismin O; Northern Ostrobothnia Hospital District, Center for Intellectual Disability Care, 90220, Oulu, Finland.
  • van Bokhoven H; Clinic for Children and Adolescents, PEDEGO Research Unit and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.
  • Järvelä I; Department of Clinical Genetics, Helsinki University Hospital, Helsinki, Finland.
Eur J Hum Genet ; 27(8): 1235-1243, 2019 08.
Article de En | MEDLINE | ID: mdl-30914828
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Effet fondateur / Prédisposition génétique à une maladie / Mutation faux-sens / Protéine adaptatrice de signalisation CRADD / Lissencéphalie Type d'étude: Prognostic_studies / Risk_factors_studies Limites: Female / Humans / Male Pays/Région comme sujet: Europa Langue: En Journal: Eur J Hum Genet Sujet du journal: GENETICA MEDICA Année: 2019 Type de document: Article Pays d'affiliation: Pays-Bas
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Effet fondateur / Prédisposition génétique à une maladie / Mutation faux-sens / Protéine adaptatrice de signalisation CRADD / Lissencéphalie Type d'étude: Prognostic_studies / Risk_factors_studies Limites: Female / Humans / Male Pays/Région comme sujet: Europa Langue: En Journal: Eur J Hum Genet Sujet du journal: GENETICA MEDICA Année: 2019 Type de document: Article Pays d'affiliation: Pays-Bas