neurofibromatosis相关论文
Neurofibromatosis(NF)is a genetic disease in which the lungs are rarely involved.However,in NF cases with lung involveme......
BACKGROUND CONTEXT: Corrective surgery for dystrophic scoliosis in neurofibromatosis Type 1(NF-1)is challenging.There ar......
目的对1例临床拟诊为Ⅰ型神经纤维瘤病、斑秃、白癜风的患儿进行致病变异分析,明确其可能的致病原因,为临床诊断提供依据。方法应用......
BACKGROUND Neurofibromatosis type 1(NF1)is an inherited autosomal dominant disorder affecting many parts of the body wit......
Coexistent vestibular schwannoma and meningioma in a patient without neurofibromatosis:A case report
BACKGROUND The simultaneous occurrence of schwannoma and meningioma in the absence of neurofibromatosis(NF)or a previous......
The auditory brainstem implant(ABI)was originally developed to provide rehabilitation of retrocochlear deafness caused b......
PD-L1 Expression and Tumor Infiltrating Lymphocytes in Neurofibromatosis Type 1-Related Benign Tumor
Background Neurofibromatosis type 1(NF1)is an autosomal dominant inherited disorder.It can affect multiple systems of th......
本综述介绍了BP(双膦酸盐)辅助治疗CPT(先天性胫骨假关节)的进展,综合了近年来国外对该研究的文章,其中包括基础研究及临床研究,并详......
目的 探讨Ⅱ型眼眶神经纤维瘤的临床特点及手术治疗方法.方法 对2001年1月至2006年10月在上海第九人民医院手术治疗的16例(16只眼)......
目的 观察Ⅰ型神经纤维瘤病基因型小鼠的破骨细胞功能变化,探讨Ⅰ型神经纤维瘤病引起骨质疏松的发病机制.方法 选取神经纤维瘤病基......
目的 对1个Ⅰ型神经纤维瘤病家系进行基因突变检测,为该家系成员提供遗传咨询并指导产前诊断.方法 利用目标基因捕获和新一代高通......
The coincidence of a gastrointestinal stromal tumor (GIST) and a neuroendocrine tumor (NET) in neurofibromatosis type 1 ......
目的先天性胫骨假关节 (congenital pseudarthrosis of tibia,CPT)病因尚不清楚 ,通过细胞培养及染色体核型研究的方法了解先天性......
Neurofibromatosis type1 (NF1), also known as Von Recklinghausens disease with approximate occurrence of 1/3000 births, c......
Neurofibromas of the large bowel are very rare and usually are part of the colonic involvement in neurofibromatosis type......
We report a case of a patient presenting with clinical,radiological and endoscopic features of colitis due to a compress......
Ampullary somatostatinomas and jejunal gastrointestinal stromal tumor in a patient with Von Reckling
Von Recklinghausen's disease is an autosomal dominant hereditary disease associated with a wide number of neoplasms. We ......
BACKGROUND Neurofibromatosis is an autosomal dominant genetic disorder with various manifestations.Systemic multiple neu......
鉴定了一个中国家庭中的常染色体显性遗传病-Ⅰ型神经纤维瘤,通过连锁分析和NF1基因测序,发现该家系中NF1疾病的致病基因与NF1基因......
Ⅰ型神经纤维瘤病(NF-1)合并腹膜后的巨大肿物临床罕见,同时腹膜后巨大肿物局部区域伴有低级别恶性神经鞘瘤的病例更鲜有报道。本......
目的:探讨周围型神经纤维瘤病伴肿瘤内出血的手术治疗的方法.方法:回顾分析我院和四川大学华西医院2000年1月~2009年1月共收治的11例......
Neurofibromatosis type1 (NF1 ) ,也与 1/3000 出生的近似出现作为 Von Recklinghausens 疾病知道,能被看作一个普通正染色体的主导......
神经纤维瘤病(neurofibromatosis,NF)是一种常染色体显性遗传病,其发病机制较复杂。临床上分为七型,但以1型神经纤维瘤病(NF1)和2......
1 病例资料患者,男,50岁,因反复腰背部酸痛4年,加重3个月余于2009年9月21日就诊。患者4年前无明显诱因间断出现腰部酸痛,无向双下肢放射......
目的探讨神经纤维瘤病的分型和各型的MR影像学表现。方法收集16例经临床或手术证实的神经纤维瘤病例,对其影像学资料、临床表现进行......
自1988年10月至1995年10月共收治21例头面部神经纤维瘤和神经纤维瘤病,其中4例凳面部大型瘤体采用颈外动脉栓塞后切除瘤体,较单纯手术组出血量显著减......
我们报导由于一个压缩的左帕拉大动脉的团与大肠炎的临床、放射学、内视镜的特征介绍的一个病人的一个案例。全部的开的外科的切除......
胃肠的基质肿瘤(大意) 代表最普通的间充质的恶意胃肠(官方补给) 道。在神经纤维瘤病(NF ) ,肿瘤的增加的发生需要在非征兆的个人被......
Plexiform neurofibroma(PN)of the digestive tract is very rare and usually part of the generalized syndrome of neurofibro......
Intraductal papillary bile duct adenocarcinoma and gastrointestinal stromal tumor in a case of neuro
We report our experience with a synchronous case of gastrointestinal stromal tumor(GIST)and intraductal papillary neopla......
目的研究中枢型神经纤维瘤病(神经纤维瘤病2型,NF2)的临床表现与MR影像特征.方法4例可疑NF2患者于临床症状出现或加重后3周至2年内......
目的:研究神经纤维瘤病的中枢神经系统MRI表现.方法:收集及分析22例NF的一般及MRI表现.结果:NF-1型主要表现为神经纤维瘤,以颈椎管......
目的:分析神经纤维瘤(Neurofibromaiosis,NF)病1型(NF1)和2型(NF2)的颅脑和脊柱的CT、MRI表现,提高诊断准确性。方法:回顾分析经临床和病理学......
目的:研究神经纤维瘤病Ⅰ型患者的脊柱和脊髓内肿瘤的MRI表现,提高对其认识。方法:回顾性分析15例经临床及病理证实的神经纤维瘤病Ⅰ......
目的:探讨神经纤维瘤病的脑部CT表现及其相关问题.方法:对15例经临床手术病理证实的神经纤维瘤病患者的临床资料与脑部CT资料进行......
目的探讨神经纤维瘤病2型的临床与MRI表现及特征,以提高对该病的认识。方法回顾性分析15例经手术或活检、病理证实神经纤维瘤病2型......
目的检测神经纤维瘤蛋白在Ⅰ型神经纤维瘤病(type 1 neurofibromatosis,NF1)脊柱侧凸患者软骨细胞中的表达,观察NF1脊柱侧凸患者软骨细......
<正> Neurofibromatosis is a dominantly inheriteddefect of the ectoderm,characterized by cafe au laitspots since the chil......
目的分析神经纤维瘤病(NF)的分型及各型MRI表现.方法回顾性分析9例经手术或活检、病理证实神经纤维瘤病患者的临床及MR表现.结果根......
Neurofibromatosis type 1 (NF1) caused by a loss-of functional mutation in NF1 encoding neurofibromin is an autosomal dom......
Neurofibromatosis type 1 (NF-1) is a common genetic disorder with a highly variable phenotype. The disease affects both ......
Synchronic Duodenal Gastrointestinal Stromal Tumor and Neuroendocrine Tumor in Association with Neur
Introduction: The coexistence of synchronic duodenal gastrointestinal stromal tumor (GIST) and neuroendocrine tumor in a......
A Proof-of-Concept Assessment of the Safety and Efficacy of Intralesional Diclofenac in the Treatmen
The objectives of this study were to assess the safety and efficacy of intralesionally administered diclofenac in the tr......
Significant hemorrhage in Neurofibromatosis Type 1 (NF-1) patients occurs infrequently, but has potentially devastateing......
Neurofibromas are relatively common lesions of the nervous system, but only a few cases involving the pinna have been re......
Neurofibromas are relatively common lesions of the nervous system, but only a few cases involving the pinna have been re......
Neurofibromatosis type I (NF1) (OMIM, 162200) and Legius syndrome (OMIM, 611431) both have multiple café au lait sp......
Intussusception is a paediatric condition that rarely presents in adults. We report an exceptional case of ileocolic int......
Aim: There are a variety of malignant tumors related to neurofibromatosis type 1 (NF1). This report describes a rare ped......