文献
J-GLOBAL ID:201202269725801986
整理番号:12A1194632
巨頭症候群:AKT3,PIK3R2,PIK3CAの新規生殖細胞系列および接合後突然変異は,一連の関連した巨頭症候群を起こす
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
著者 (40件):
RIVIERE Jean-Baptiste
(Seattle Children’s Hospital, Washington, USA)
,
ST-ONGE Judith
(Seattle Children’s Hospital, Washington, USA)
,
SULLIVAN Christopher T
(Seattle Children’s Hospital, Washington, USA)
,
WARD Thomas R
(Seattle Children’s Hospital, Washington, USA)
,
BUTLER Hailly E
(Seattle Children’s Hospital, Washington, USA)
,
DOBYNS William B
(Seattle Children’s Hospital, Washington, USA)
,
MIRZAA Ghayda M
(Univ. Chicago, Illinois, USA)
,
O’ROAK Brian J
(Univ. Washington, Washington, USA)
,
SHENDURE Jay
(Univ. Washington, Washington, USA)
,
BEDDAOUI Margaret
(Univ. Ottawa, Ontario, CAN)
,
WORTHYLAKE Thea
(Univ. Ottawa, Ontario, CAN)
,
BEAULIEU Chandree L
(Univ. Ottawa, Ontario, CAN)
,
BOYCOTT Kym M
(Univ. Ottawa, Ontario, CAN)
,
ALCANTARA Diana
(Univ. Sussex, Brighton, GBR)
,
O’DRISCOLL Mark
(Univ. Sussex, Brighton, GBR)
,
CONWAY Robert L
(Michigan State Univ., Michigan, USA)
,
SCHWARTZENTRUBER Jeremy A
(McGill Univ., Quebec, CAN)
,
GRIPP Karen W
(A.I. duPont Hospital for Children, Delaware, USA)
,
NIKKEL Sarah M
(Children’s Hospital of Eastern Ontario, Ontario, CAN)
,
BOYCOTT Kym M
(Children’s Hospital of Eastern Ontario, Ontario, CAN)
,
KRAMER Nancy A
(Cedars-Sinai Medical Center, California, USA)
,
GRAHAM John M, Jr
(Cedars-Sinai Medical Center, California, USA)
,
ALBRECHT Beate
(Univ. Hospital Essen, Essen, DEU)
,
ARMOUR Christine M
(Queen’s Univ., Ontario, CAN)
,
ARMSTRONG Linlea
(Univ. British Columbia, British Columbia, CAN)
,
CALUSERIU Oana
(Univ. Calgary, Alberta, CAN)
,
INNES A Micheil
(Univ. Calgary, Alberta, CAN)
,
LAUZON Julie L
(Univ. Calgary, Alberta, CAN)
,
CYTRYNBAUM Cheryl
(Hospital for Sick Children, Ontario, CAN)
,
WEKSBERG Rosanna
(Hospital for Sick Children, Ontario, CAN)
,
DROLET Beth A
(Medical Coll. of Wisconsin, Wisconsin, USA)
,
LIN Angela E
(MassGeneral Hospital for Children, Massachusetts, USA)
,
MANCINI Grazia M S
(Erasmus Medical Center, Rotterdam, NLD)
,
MESCHINO Wendy S
(North York General Hospital, Ontario, CAN)
,
REGGIN James D
(Providence Sacred Heart Medical Center and Children’s Hospital, Washington, USA)
,
SAGGAR Anand K
,
LERMAN-SAGIE Tally
,
UYANIK Goekhan
,
ZIRN Birgit
,
MAJEWSKI Jacek
資料名:
Nature Genetics
(Nature Genetics)
巻:
44
号:
8
ページ:
934-940
発行年:
2012年08月
JST資料番号:
W0430A
ISSN:
1061-4036
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)