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SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri, Valentina; D'Abrusco, Fulvio; Dempsey, Jennifer C; Cheng, Yong-Han Hank; Arrigoni, Filippo; Baker, Janice; Battini, Roberta; Bertini, Enrico Silvio; Borgatti, Renato; Christman, Angela K; Curry, Cynthia; D'Arrigo, Stefano; Fluss, Joel; Freilinger, Michael; Gana, Simone; Ishak, Gisele E; Leuzzi, Vincenzo; Loucks, Hailey; Manti, Filippo; Mendelsohn, Nancy; Merlini, Laura; Miller, Caitlin V; Muhammad, Ansar; Nuovo, Sara; Romaniello, Romina; Schmidt, Wolfgang; Signorini, Sabrina; Siliquini, Sabrina; Szczaluba, Krzysztof; Vasco, Gessica; Wilson, Meredith; Zanni, Ginevra; Boltshauser, Eugen; Doherty, Dan; Valente, Enza Maria.
Afiliación
  • Serpieri V; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy.
  • D'Abrusco F; Department of Molecular Medicine, University of Pavia, Pavia, Lombardia, Italy.
  • Dempsey JC; Department of Pediatrics, University of Washington Center for Mendelian Genomics, Washington USA.
  • Cheng YH; Department of Pediatrics, University of Washington Center for Mendelian Genomics, Washington USA.
  • Arrigoni F; Neuroimaging Lab, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
  • Baker J; Genomics and Genetic Medicine Department, Children's Minnesota, Minneapolis, Minnesota, USA.
  • Battini R; Unit of Child Neuropsychiatry, IRCCS Foundation Stella Maris, Calambrone, Toscana, Italy.
  • Bertini ES; Department of Clinical ad Experimental Medicine, University of Pisa, Pisa, Italy.
  • Borgatti R; Laboratory of Molecular Medicine, Unit of Muscular and Neurodegenerative Diseases, Department of Neuroscience, Bambino Gesu Children's Hospital, IRCCS, Rome, Italy.
  • Christman AK; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Curry C; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.
  • D'Arrigo S; Department of Pediatrics, University of Washington Center for Mendelian Genomics, Washington USA.
  • Fluss J; Department of Pediatrics, Stanford University, Stanford, California, USA.
  • Freilinger M; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, Fresno, California, USA.
  • Gana S; University Pediatric Specialists, Fresno, California, USA.
  • Ishak GE; Department of Developmental Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Leuzzi V; Department of Women, Children and Adolescents, Geneva University Hospitals, Geneva, Switzerland.
  • Loucks H; Department of Paediatric and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
  • Manti F; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy.
  • Mendelsohn N; Department of Neuroradiology, University of Washington School of Medicine, Seattle, Washington, USA.
  • Merlini L; Pediatric Radiology, Seattle Children's Hospital, Seattle, Washington, USA.
  • Miller CV; Department of Human Neuroscience, University of Rome La Sapienza, Roma, Lazio, Italy.
  • Muhammad A; Department of Pediatrics, University of Washington Center for Mendelian Genomics, Washington USA.
  • Nuovo S; Department of Human Neuroscience, University of Rome La Sapienza, Roma, Lazio, Italy.
  • Romaniello R; Complex Health Solutions, United Healthcare, Minneapolis, Minnesota, USA.
  • Schmidt W; Department of Pediatric Radiology, Geneva University Hospitals Children's Hospital, Geneva, Switzerland.
  • Signorini S; Department of Pediatrics, University of Washington Center for Mendelian Genomics, Washington USA.
  • Siliquini S; Institute of Molecular and Clinical Ophthalmology, Basel, Switzerland.
  • Szczaluba K; Depatment of Ophtalmology, University of Lausanne, Jules Gonin Eye Hospital, Lausanne, Switzerland.
  • Vasco G; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
  • Wilson M; Department of Experimental Medicine, University of Rome La Sapienza, Rome, Lazio, Italy.
  • Zanni G; Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Lecco, Italy.
  • Boltshauser E; Center for Anatomy and Cell Biology, Neuromuscular Research Department, Medical University of Vienna, Vienna, Austria.
  • Doherty D; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.
  • Valente EM; Child Neuropsychiatry Unit, Paediatric Hospital G Salesi, Ancona, Italy.
J Med Genet ; 59(9): 888-894, 2022 Sep.
Article en En | MEDLINE | ID: mdl-34675124
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Ataxia Cerebelosa / Anomalías del Ojo / Enfermedades Renales Quísticas / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Humans / Male Idioma: En Revista: J Med Genet Año: 2022 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Ataxia Cerebelosa / Anomalías del Ojo / Enfermedades Renales Quísticas / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Humans / Male Idioma: En Revista: J Med Genet Año: 2022 Tipo del documento: Article País de afiliación: Italia