文献
J-GLOBAL ID:201302260743184803
整理番号:13A0619364
頭蓋骨癒合症:TWIST1の塩基性ヘリックス・ループ・ヘリックス(bHLH)パートナータンパク質をコードするTCF12の変異は冠状頭蓋骨癒合症を高頻度で引き起こす
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
著者 (29件):
SHARMA Vikram P
(Univ. Oxford, Oxford, GBR)
,
FENWICK Aimee L
(Univ. Oxford, Oxford, GBR)
,
PHIPPS Julie M
(Univ. Oxford, Oxford, GBR)
,
TWIGG Stephen R F
(Univ. Oxford, Oxford, GBR)
,
WILKIE Andrew O M
(Univ. Oxford, Oxford, GBR)
,
SHARMA Vikram P
(Oxford Univ. Hospitals National Health Serv. (NHS) Trust, Oxford, GBR)
,
JOHNSON David
(Oxford Univ. Hospitals National Health Serv. (NHS) Trust, Oxford, GBR)
,
WALL Steven A
(Oxford Univ. Hospitals National Health Serv. (NHS) Trust, Oxford, GBR)
,
WILKIE Andrew O M
(Oxford Univ. Hospitals National Health Serv. (NHS) Trust, Oxford, GBR)
,
BROCKOP Mia S
(Univ. Southern California/Norris Cancer Center, California, USA)
,
MAXSON Robert E
(Univ. Southern California/Norris Cancer Center, California, USA)
,
BROCKOP Mia S
(Univ. Paris-Sud, Orsay, FRA)
,
MCGOWAN Simon J
(Univ. Oxford, Oxford, GBR)
,
GOOS Jacqueline A C
(Univ. Medical Center Rotterdam, Rotterdam, NLD)
,
MATHIJSSEN Irene M J
(Univ. Medical Center Rotterdam, Rotterdam, NLD)
,
VAN DER SPEK Peter J
(Univ. Medical Center Rotterdam, Rotterdam, NLD)
,
HOOGEBOOM A Jeannette M
(Univ. Medical Center Rotterdam, Rotterdam, NLD)
,
BRADY Angela F
(North West London Hospitals NHS Trust, London, GBR)
,
JEELANI Nu Owase
(Great Ormond Street Hospital for Children NHS Trust, London, GBR)
,
LYNCH Sally Ann
(Our Lady’s Children’s Hospital, Dublin, IRL)
,
MULLIKEN John B
(Children’s Hospital, Massachusetts, USA)
,
MURRAY Dylan J
(Children’s Univ. Hospital, Dublin, IRL)
,
SWEENEY Elizabeth
(Liverpool Women’s NHS Foundation Trust, Liverpool, GBR)
,
TOMKINS Susan E
(Musgrove Park Hospital, Taunton, GBR)
,
WILSON Louise C
(Great Ormond Street Hospital for Children NHS Trust, London, GBR)
,
BENNETT Sophia
(Univ. Oxford, Oxford, GBR)
,
CORNALL Richard J
(Univ. Oxford, Oxford, GBR)
,
BROXHOLME John
(Univ. Oxford, Oxford, GBR)
,
KANAPIN Alexander
(Univ. Oxford, Oxford, GBR)
資料名:
Nature Genetics
(Nature Genetics)
巻:
45
号:
3
ページ:
304-307
発行年:
2013年03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)