大疱性表皮松解症研究和治疗最新进展
题名: 大疱性表皮松解症研究和治疗最新进展
摘要: Epidermolysis bullosa (EB) is the umbrellaterm for a group of rare inherited skin fragility disorders caused by mutationsin at least 20 different genes. There is no cure for any of the subtypes of EBresulting from different mutations, and current therapy only focuses on themanagement of wounds and p...

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神经鞘瘤病
关键词:神经鞘瘤病 Schwannomatosis

神经鞘瘤病最新文献

A rare occurrence and management of familial Schwannomatosis 2014.04.04
一种罕见的家族性神经鞘瘤病的管理
我们介绍了一种无多发性神经纤维瘤病(NF)特点的家族性神经鞘瘤病。我们回顾性复习了病人的医院记录、放射片、手术记录和病理切片。患者具有神经鞘瘤病家族史。患者进行了对比增强的MRI,结果显示为前庭神经鞘瘤呈阴性。患者手术切除了有症状的病变。组织...
Familial occurrence of schwannomas and malignant rhabdoid tumour associated with...2014.04.04
Background: The role of germline and somatic SMARCB1 gene mutations in malignant rhabdoid tumour(MRT) predisposition is well known. Germline SMARCB1 mutations have also recently been identified in a subset of individuals with schwannom...
SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis2014.04.04
SMARCB1/INI1胚系突变导致10%的散发性神经鞘瘤病
神经鞘瘤病是一种以多个非前庭神经鞘瘤为特征的疾病。虽然在神经鞘瘤中发现了双等位基因NF2突变,但是在神经鞘瘤病患者中没有检测到生殖系事件。相反,在家族性和散发性神经鞘瘤病患者中发现了SMARCB1(INI1)肿瘤抑制基因的胚系突变。方法:为了描述SMARC...
Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sp...2014.04.04
Biallelic inactivation of the NF2 gene occurs in the majority of schwannomas. This usually involves a combination of a point mutation or multiexon deletion, in conjunction with either a second point mutation or loss of heterozygosity (...