RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformations

Hartill Verity L.; Dillon Mitchell W.; Warren Daniel J.; Blyth Moira

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RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformations

机译：RAF1相关的Noonan综合征在天病上呈现出颅骨形状，阴囊血肿和与新的脑畸形相关的异常

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来源
《Clinical dysmorphology》 |2017年第2期|共6页
作者
Hartill Verity L.; Dillon Mitchell W.; Warren Daniel J.; Blyth Moira;
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作者单位

Leeds Teaching Hosp NHS Trust Yorkshire Reg Genet Serv Chapel Allerton Hosp Chapeltown Rd Leeds;

Partners Personalized Med Lab Mol Med Cambridge MA USA;

Leeds Teaching Hosp NHS Trust Leeds Gen Infirm Dept Neuroradiol Leeds W Yorkshire England;

Leeds Teaching Hosp NHS Trust Yorkshire Reg Genet Serv Chapel Allerton Hosp Chapeltown Rd Leeds;

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正文语种 eng
中图分类妇产科学;
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1. RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformations [J] . Hartill Verity L., Dillon Mitchell W., Warren Daniel J., Clinical dysmorphology . 2017,第2期

机译：RAF1相关的中非南综合征在出现的颅骨形状，软骨血肿和与新的脑畸形相关的异常
2. Intractable brain swelling during cerebral arteriovenous malformation surgery due to contralateral acute subdural haematoma [J] . Ankur Khandelwal, Arvind Chaturvedi, Gyaninder Pal Singh, Indian journal of Anaesthesia . 2018,第12期

机译：对侧急性硬脑膜下血肿引起的脑动静脉畸形手术期间顽固性脑肿胀
3. Inducible Pluripotent Stem Cell-Derived Cardiomyocytes Reveal Aberrant Extracellular Regulated Kinase 5 and Mitogen-Activated Protein Kinase Kinase 1/2 Signaling Concomitantly Promote Hypertrophic Cardiomyopathy in RAF1-Associated Noonan Syndrome [J] . Jaffre Fabrice, Miller Clint L., Schaenzer Anne, Circulation: An Official Journal of the American Heart Association . 2019,第3期

机译：诱导多能干细胞衍生的心肌细胞揭示异常细胞外调节激酶5和丝裂剂活化蛋白激酶激酶1/2信号传导，伴随着RAF1相关的Noonan综合征中的肥厚性心肌病
4. Automatic Classification of Squamosal Abnormality in Micro-CT Images for the Evaluation of Rabbit Fetal Skull Defects using Active Shape Models [C] . Antong Chen, Belma Dogdas, Saurin Mehta, Conference on biomedical applications in molecular, structural, and functional imaging . 2014

机译：使用活动形状模型对微型CT图像中的鳞状畸形进行自动分类以评估兔胎儿头骨缺损
5. Posterior fossa malformations and other CNS abnormalities observed in patients diagnosed with Beckwith-Wiedemann Syndrome [D] . Gardiner, Kate 2011

机译：在诊断为Beckwith-Wiedemann综合征的患者中观察到后颅窝畸形和其他CNS异常
6. Novel treatment (new drug/intervention; established drug/procedure in new situation): Cerebral salt wasting syndrome in a patient affected of spontaneous frontoparietal subdural haematoma [O] . Mariaina Cerdá-Esteve, Mariona Badia, Javier Trujillano, 2009

机译：新型治疗（新药/干预；新情况下已确立的药物/程序）：患有自发性额前额叶硬膜下血肿的患者的脑盐消耗综合征
7. Cerebral salt wasting syndrome in a patient affected of spontaneous frontoparietal subdural haematoma [O] . Cerdá-Esteve, Mariaina, Badia, Mariona, Trujillano, Javier, 2009

机译：自发性额前额叶硬膜下血肿患者的脑盐消耗综合征

RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformations

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