1型神经纤维瘤病(neurofibromatosis type 1, NF1) 是最常见的类型,以前称为von Recklinghausen病。NF1的标志性特征是多发的牛奶咖啡斑和相关的皮肤神经纤维瘤。若临床特征局限于身体某一区域,由致病NF1基因变异的体细胞镶嵌所致,则称为节段型NF1。 本文将着重NF1的具体治疗和预后,NF1的发病机制、临床特征和诊断...
Although NF1 is a rare disease, it is an important cause of renovasculer hypertension in childhood. Abdominal bruit is an alerting physical finding in diagnosis of renal artery stenosis. We here presented our two cases diagnosed with hypertension while being screened for NF1 to emphasize the ...
根据临床表现和遗传基础,神经纤维瘤病有3种不同类型:1型神经纤维瘤病(neurofibromatosis type 1, NF1)、2型神经纤维瘤病(neurofibromatosis type 2, NF2)和施万细胞瘤病。NF1曾称为von Recklinghausen病,是最常见的类型,其标志性特征是多发咖啡牛奶斑和神经纤维瘤。若临床特征局限于身体某一区域,由NF1基因致病变异...
Neurofibromatosis type 1 (NF1)神经纤维瘤病 1 英文解释 Neurofibromatosis 1 (NF1) is an inherited neurocutaneous disease that has a major impact on the nervous system, eye, skin, and bone. 中文解释 神经纤维瘤病 1 (NF1) 是一种遗传性神经皮肤病,对神经系统、眼睛、皮肤和骨骼有重大影响。
Molecular genetics of neurofibromatosis type 1 (NF1) Neurofibromatosis type 1 (NF1), also called von Recklinghausen disease or peripheral neurofibromatosis, is a common autosomal dominant disorder characteris... M.H. Shen,P.S. Harper,M Upadhyaya - 《Journal of Medical Genetics》 被引量: 618...
Type 1 diabetes is an autoimmune disease in which pancreatic beta cells are destroyed by autoreactive T cells. It is a common pediatric disease with increasing incidence. Islet transplantation may be a therapeutic option, however, the current limitations of this procedure mean that for most sufferer...
We have hypothesized that DNA methylation contributes to mutations in the gene causing neurofibromatosis type 1 (NF1), one of the most common genetic disorders in humans and a disease where up to half of all cases are the result of sporadic germline mutations, usually in the paternally-derived...
Type 1 diabetes is an autoimmune disease characterised by selective destruction of pancreatic beta cells by the immune system. The transcription factor nuclear factor-kappa B (NF-κB) regulates innate and adaptive immune responses. Using gene targeting andin vitroanalysis of pancreatic islets and immun...
NF1是最常见的神经皮肤疾病,婴儿中发病率约为3,300分之一。 它是一种具有可变外显率的常染色体显性疾病。 NF1患者脊柱肿瘤的发生率为36%。 Clinical presentation In patients with paraspinal neurofibromas, clinical manifestations depend on the location and extent...
Neurofibromatosis type 1 (NF1)-Von Recklinghausen disease is the most frequent single-gene disorder that affects the nervous system. NF1 is inherited in an autosomal dominant manner with an estimated incidence of about 1 in 3000. The NF1 gene is mapped to chromosome 17, (17p21). Its ...