文献
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:
4
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)