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J-GLOBAL ID：201702236543552928   整理番号：17A1414852

ギャロウェー・モワット症候群:KEOPS複合体遺伝子の変異は原発性小頭症を伴うネフローゼ症候群を引き起こす

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
著者 (120件)：
BRAUN Daniela A
(Harvard Medical School, Massachusetts, USA)
, 
RAO Jia
(Harvard Medical School, Massachusetts, USA)
, 
SCHAPIRO David
(Harvard Medical School, Massachusetts, USA)
, 
TAN Weizhen
(Harvard Medical School, Massachusetts, USA)
, 
JOBST-SCHWAN Tilman
(Harvard Medical School, Massachusetts, USA)
, 
SCHMIDT Johanna Magdalena
(Harvard Medical School, Massachusetts, USA)
, 
LAWSON Jennifer A
(Harvard Medical School, Massachusetts, USA)
, 
ASHRAF Shazia
(Harvard Medical School, Massachusetts, USA)
, 
HOOGSTRATEN Charlotte A
(Harvard Medical School, Massachusetts, USA)
, 
LOVRIC Svjetlana
(Harvard Medical School, Massachusetts, USA)
, 
AIRIK Merlin
(Harvard Medical School, Massachusetts, USA)
, 
HERMLE Tobias
(Harvard Medical School, Massachusetts, USA)
, 
SHRIL Shirlee
(Harvard Medical School, Massachusetts, USA)
, 
WIDMEIER Eugen
(Harvard Medical School, Massachusetts, USA)
, 
GEE Heon Yung
(Harvard Medical School, Massachusetts, USA)
, 
CHOI Won-Il
(Harvard Medical School, Massachusetts, USA)
, 
SADOWSKI Carolin E
(Harvard Medical School, Massachusetts, USA)
, 
PABST Werner L
(Harvard Medical School, Massachusetts, USA)
, 
WAREJKO Jillian K
(Harvard Medical School, Massachusetts, USA)
, 
DAGA Ankana
(Harvard Medical School, Massachusetts, USA)
, 
HILDEBRANDT Friedhelm
(Harvard Medical School, Massachusetts, USA)
, 
MOLLET Geraldine
(INSERM, Paris, FRA)
, 
GRIBOUVAL Olivier
(INSERM, Paris, FRA)
, 
BOYER Olivia
(INSERM, Paris, FRA)
, 
MARTIN Gaeelle
(INSERM, Paris, FRA)
, 
FURLANO Monica
(INSERM, Paris, FRA)
, 
ANTIGNAC Corinne
(INSERM, Paris, FRA)
, 
MOLLET Geraldine
(Univ. Paris Descartes-Sorbonne Paris Cite, Paris, FRA)
, 
GRIBOUVAL Olivier
(Univ. Paris Descartes-Sorbonne Paris Cite, Paris, FRA)
, 
BOYER Olivia
(Univ. Paris Descartes-Sorbonne Paris Cite, Paris, FRA)
, 
REVY Patrick
(Univ. Paris Descartes-Sorbonne Paris Cite, Paris, FRA)
, 
BODDAERT Nathalie
(Univ. Paris Descartes-Sorbonne Paris Cite, Paris, FRA)
, 
MARTIN Gaeelle
(Univ. Paris Descartes-Sorbonne Paris Cite, Paris, FRA)
, 
FURLANO Monica
(Univ. Paris Descartes-Sorbonne Paris Cite, Paris, FRA)
, 
ANTIGNAC Corinne
(Univ. Paris Descartes-Sorbonne Paris Cite, Paris, FRA)
, 
DAUGERON Marie-Claire
(Inst. for Integrative Biology of the Cell (I2BC), CNRS, Gif-sur-Yvette, FRA)
, 
COLLINET Bruno
(Inst. for Integrative Biology of the Cell (I2BC), CNRS, Gif-sur-Yvette, FRA)
, 
LIGER Dominique
(Inst. for Integrative Biology of the Cell (I2BC), CNRS, Gif-sur-Yvette, FRA)
, 
BASTA Tamara
(Inst. for Integrative Biology of the Cell (I2BC), CNRS, Gif-sur-Yvette, FRA)
, 
VAN TILBEURGH Herman
(Inst. for Integrative Biology of the Cell (I2BC), CNRS, Gif-sur-Yvette, FRA)
, 
BOYER Olivia
(Necker Hospital, Paris, FRA)
, 
REVY Patrick
(INSERM, Paris, FRA)
, 
SCHANZE Denny
(Univ. Hospital Magdeburg, Magdeburg, DEU)
, 
ZENKER Martin
(Univ. Hospital Magdeburg, Magdeburg, DEU)
, 
ULLMANN Jeremy F P
(Boston Children’s Hospital, Massachusetts, USA)
, 
TRUGLIO Gessica
(Boston Children’s Hospital, Massachusetts, USA)
, 
PODURI Annapurna
(Boston Children’s Hospital, Massachusetts, USA)
, 
ULLMANN Jeremy F P
(Harvard Medical School, Massachusetts, USA)
, 
PODURI Annapurna
(Harvard Medical School, Massachusetts, USA)
, 
BODDAERT Nathalie
(INSERM, Paris, FRA)
, 
BODDAERT Nathalie
(Necker Hospital, Paris, FRA)
, 
COLLINET Bruno
(Sorbonne Univ. UPMC, Paris, FRA)
, 
FURLANO Monica
(Universitat Autonoma de Barcelona, Barcelona, ESP)
, 
GUERRERA I Chiara
(Univ. Paris Descartes-Structure Federative de Rech. Necker, Paris, FRA)
, 
SANCHEZ-FERRAS Oraly
(McGill Univ., Quebec, CAN)
, 
BOUCHARD Maxime
(McGill Univ., Quebec, CAN)
, 
HU Jennifer F
(Massachusetts Inst. of Technol., Massachusetts, USA)
, 
BOSCHAT Anne-Claire
(Univ. Paris Descartes-Sorbonne Paris Cite, Paris, FRA)
, 
SANQUER Sylvia
(Necker Hospital, Paris, FRA)
, 
SANQUER Sylvia
(Paris Descartes-Sorbonne Paris Cite Univ., Paris, FRA)
, 
MENTEN Bjoern
(Ghent Univ. Hospital, Ghent, BEL)
, 
VERGULT Sarah
(Ghent Univ. Hospital, Ghent, BEL)
, 
ROCKER Nina De
(Ghent Univ. Hospital, Ghent, BEL)
, 
CALLEWAERT Bert
(Ghent Univ. Hospital, Ghent, BEL)
, 
WIDMEIER Eugen
(Univ. Freiburg, Freiburg, DEU)
, 
GEE Heon Yung
(Yonsei Univ. Coll. of Medicine, Seoul, KOR)
, 
MATEJAS Verena
(Friedrich-Alexander-Univ. Erlangen-Nuernberg, Erlangen, DEU)
, 
SCHARMANN Karin
(Max Planck Inst. for Molecular Biomedicine, Muenster, DEU)
, 
KIENAST Sandra D
(Max Planck Inst. for Molecular Biomedicine, Muenster, DEU)
, 
LEIDEL Sebastian A
(Max Planck Inst. for Molecular Biomedicine, Muenster, DEU)
, 
SCHARMANN Karin
(Univ. Muenster, Muenster, DEU)
, 
KIENAST Sandra D
(Univ. Muenster, Muenster, DEU)
, 
LEIDEL Sebastian A
(Univ. Muenster, Muenster, DEU)
, 
BEHNAM Babak
(Iran Univ. Medical Sci. (IUMS), Tehran, IRN)
, 
BEHNAM Babak
(National Inst. of Health, Maryland, USA)
, 
BEESON Brendan
(Dep. of Diagnostic Imaging, Princess Margaret and King Edward Memorial Hospitals, Western Australia, AUS)
, 
BRUCE Malcolm
(Dep. of Diagnostic Imaging, Princess Margaret and King Edward Memorial Hospitals, Western Australia, AUS)
, 
BEGTRUP Amber
(GeneDx, Maryland, USA)
, 
CHO Megan T
(GeneDx, Maryland, USA)
, 
SCHNUR Rhonda E
(GeneDx, Maryland, USA)
, 
CH’NG Gaik-Siew
(Kuala Lumpur Hospital, Kuala Lumpur, MYS)
, 
LIN Shuan-Pei
(MacKay Children’s Hospital, Taipei, TWN)
, 
LIN Shuan-Pei
(MacKay Medical Coll., New Taipei City, TWN)
, 
TSAI Jeng-Daw
(MacKay Medical Coll., New Taipei City, TWN)
, 
CHANG Jui-Hsing
(MacKay Children’s Hospital, Taipei, TWN)
, 
HSU Chyong-Hsin
(MacKay Children’s Hospital, Taipei, TWN)
, 
TSAI Jeng-Daw
(MacKay Children’s Hospital, Taipei, TWN)
, 
CHEN Chao-Huei
(Taichung Veterans General Hospital, Taichung, TWN)
, 
KE Yu-Yuan
(Taichung Veterans General Hospital, Taichung, TWN)
, 
GAFFNEY Patrick M
(Oklahoma Medical Res. Foundation, Oklahoma, USA)
, 
GIPSON Patrick E
(Univ. Michigan, Michigan, USA)
, 
KARI Jameela A
(King Abdulaziz Univ., Jeddah, SAU)
, 
KIRALY-BORRI Cathy
(Genetic Serv. of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, Western Australia, AUS)
, 
LAI Wai-ming
(Princess Margaret Hospital, Hong Kong, CHN)
, 
LEMYRE Emmanuelle
(Univ. de Montreal, Quebec, CAN)
, 
LITTLEJOHN Rebecca Okashah
(Baylor Coll. of Medicine, Texas, USA)
, 
ROEDER Elizabeth R
(Baylor Coll. of Medicine, Texas, USA)
, 
MASRI Amira
(Univ. Jordan, Amman, JOR)
, 
MOGHTADERI Mastaneh
(Tehran Univ. Medical Sci., Tehran, IRN)
, 
NAKAMURA Kazuyuki
(Yamagata Univ. School of Medicine, Yamagata, JPN)
, 
SHIIHARA Takashi
(Yamagata Univ. School of Medicine, Yamagata, JPN)
, 
OZALTIN Fatih
(Hacettepe Univ., Ankara, TUR)
, 
TOPALOGLU Rezan
(Hacettepe Univ., Ankara, TUR)
, 
PRAET Marleen
(Ghent Univ. Hospital, Ghent, BEL)
, 
PRASAD Chitra
(Western Univ., Ontario, CAN)
, 
PRYTULA Agnieszka
(Ghent Univ. Hospital, Ghent, BEL)
, 
RUMP Patrick
(Univ. Groningen, Groningen, NLD)
, 
SINHA Manish D
(Guy’s and St Thomas’ NHS Foundation Trust, London, GBR)
, 
SOLIMAN Neveen A
(Cairo Univ., Cairo, EGY)
, 
SOLIMAN Neveen A
(Egyptian Group for Orphan Renal Diseases, Cairo, EGY)
, 
SOULAMI Kenza
(Ibn Rochd Univ. Hospital, Casablanca, MAR)
, 
SWEETSER David A
(Massachusetts General Hospital for Children, Massachusetts, USA)
, 
WAXLER Jessica L
(Massachusetts General Hospital for Children, Massachusetts, USA)
, 
TSAI Wen-Hui
(Chi Mei Medical Center, Tainan, TWN)
, 
TSAI Jeng-Daw
(Taipei Medical Univ. Hospital, Taipei, TWN)
, 
TSAI Jeng-Daw
(Taipei Medical Univ., Taipei, TWN)
, 
VESTER Udo
(Univ. Hospital Essen, Essen, DEU)
, 
VISKOCHIL David H
(Univ. Utah School of Medicine, Utah, USA)
, 
VATANAVICHARN Nithiwat
(Mahidol Univ., Bangkok, THA)
, 
WIERENGA Klaas J
(Oklahoma Univ. Health Sci. Center (OUHSC), Oklahoma, USA)

資料名：
Nature Genetics  (Nature Genetics)

巻： 49  号： 10  ページ： 1529-1538  発行年： 2017年10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)
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