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J-GLOBAL ID:201702270750196429   整理番号:17A1433381

分離および症候性成長遅滞/知的障害のコホートにおけるコピー数変異体解析は新規ゲノム疾患,位置効果と候補疾患遺伝子を明らかにする【Powered by NICT】

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes
著者 (58件):
Di Gregorio E.
(University of Torino, Department of Medical Sciences, Turin, Italy)
Di Gregorio E.
(Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy)
Riberi E.
(Department of Public Health and Pediatrics, University of Torino, Turin, Italy)
Belligni E.F.
(Department of Public Health and Pediatrics, University of Torino, Turin, Italy)
Biamino E.
(Department of Public Health and Pediatrics, University of Torino, Turin, Italy)
Spielmann M.
(Research Group Mundlos, Max Planck Institute for Molecular Genetics, Berlin, Germany)
Ala U.
(Computational Biology Unit, Molecular Biotechnology Center (MBC), Turin, Italy)
Ala U.
(Department of Molecular Biotechnology and Health Sciences, University of Torino, Turin, Italy)
Calcia A.
(University of Torino, Department of Medical Sciences, Turin, Italy)
Bagnasco I.
(Neuropsichiatria Infantile, Martini Hospital, ASL TO1, Turin, Italy)
Carli D.
(University of Torino, Department of Medical Sciences, Turin, Italy)
Gai G.
(Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy)
Giordano M.
(Department of Health Sciences, Laboratory of Genetics, University of Eastern Piedmont and Interdisciplinary Research Center of Autoimmune Diseases, Novara, Italy)
Guala A.
(SOC Pediatria, Castelli Hospital, Verbania, Italy)
Keller R.
(Mental Health Department, ASL TO2, Adult Autism Center, Turin, Italy)
Mandrile G.
(Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy)
Mandrile G.
(Medical Genetics, San Luigi Gonzaga University Hospital, Orbassano (TO), Italy)
Arduino C.
(Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy)
Maffe A.
(Molecular Biology and Genetics Unit, Santa Croce e Carle Hospital, Cuneo, Italy)
Naretto V.G.
(Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy)
Sirchia F.
(Molecular Biology and Genetics Unit, Santa Croce e Carle Hospital, Cuneo, Italy)
Sorasio L.
(Pediatrics, Santa Croce e Carle Hospital, Cuneo, Italy)
Ungari S.
(Molecular Biology and Genetics Unit, Santa Croce e Carle Hospital, Cuneo, Italy)
Zonta A.
(Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy)
Zacchetti G.
(Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy)
Zacchetti G.
(Department of Health Sciences, Laboratory of Genetics, University of Eastern Piedmont and Interdisciplinary Research Center of Autoimmune Diseases, Novara, Italy)
Talarico F.
(Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy)
Pappi P.
(Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy)
Cavalieri S.
(University of Torino, Department of Medical Sciences, Turin, Italy)
Giorgio E.
(University of Torino, Department of Medical Sciences, Turin, Italy)
Mancini C.
(University of Torino, Department of Medical Sciences, Turin, Italy)
Ferrero M.
(University of Torino, Department of Medical Sciences, Turin, Italy)
Brussino A.
(University of Torino, Department of Medical Sciences, Turin, Italy)
Savin E.
(Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy)
Gandione M.
(Department of Neuropsychiatry, University of Torino, Turin, Italy)
Pelle A.
(Medical Genetics, San Luigi Gonzaga University Hospital, Orbassano (TO), Italy)
Pelle A.
(Department of Clinical and Biological Sciences, University of Torino, Turin, Italy)
Giachino D.F.
(Medical Genetics, San Luigi Gonzaga University Hospital, Orbassano (TO), Italy)
Giachino D.F.
(Department of Clinical and Biological Sciences, University of Torino, Turin, Italy)
De Marchi M.
(Medical Genetics, San Luigi Gonzaga University Hospital, Orbassano (TO), Italy)
De Marchi M.
(Department of Clinical and Biological Sciences, University of Torino, Turin, Italy)
Restagno G.
(Laboratory of Molecular Genetics, Citta della Salute e della Scienza University Hospital, Turin, Italy)
Provero P.
(Computational Biology Unit, Molecular Biotechnology Center (MBC), Turin, Italy)
Provero P.
(Department of Molecular Biotechnology and Health Sciences, University of Torino, Turin, Italy)
Cirillo Silengo M.
(Department of Public Health and Pediatrics, University of Torino, Turin, Italy)
Grosso E.
(Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy)
Buxbaum J.D.
(Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York)
Buxbaum J.D.
(Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York)
Buxbaum J.D.
(Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York)
Buxbaum J.D.
(Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York)
Buxbaum J.D.
(Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York)
Buxbaum J.D.
(Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York)
Pasini B.
(Molecular Biology and Genetics Unit, Santa Croce e Carle Hospital, Cuneo, Italy)
De Rubeis S.
(Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York)
De Rubeis S.
(Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York)
Brusco A.
(University of Torino, Department of Medical Sciences, Turin, Italy)
Brusco A.
(Medical Genetics Unit, Citta della Salute e della Scienza University Hospital, Turin, Italy)
Ferrero G.B.
(Department of Public Health and Pediatrics, University of Torino, Turin, Italy)

資料名:
Clinical Genetics  (Clinical Genetics)

巻: 92  号:ページ: 415-422  発行年: 2017年 
JST資料番号: E0526B  ISSN: 0009-9163  資料種別: 逐次刊行物 (A)
記事区分: 原著論文  発行国: アメリカ合衆国 (USA)  言語: 英語 (EN)
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