Neurofibromatosis (NF) 1 and 2 are genetically and phenotyp-ically distinct genetic disorders characterized by the development of benign and malignant tumors. Advances in molecular genetics have resulted in the identification of the NF1 and NF2 genes and their encoded proteins, neurofibromin, and ...
The neurofibromatoses form the largest group of the neurocutaneous disorders. These are autosomal dominant gene disorders characterised by a propensity to dysplasia or neoplasia of the central and peripheral nervous system, skin and eyes. They were first
Purpose: Neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2) are two separate neurogenetic disorders that are both characterized by a predisposition to develop multiple benign nerve sheath tumors. While patients with NF1 are at substantially increased risk for developing malignant peripheral nerve ...
Rationale:Neurofibromatosis, including type 1 and type 2, is inherited dominant disease that causes serious consequences. The genetic mechanism of these diseases has been described, but germline mutation of checkpoint 2 kinase gene, together with other DNA repair related genes, has not been fully ...
Objective.—Neurofibromatosis 1 and neurofibromatosis 2 are autosomal dominant genetic disorders in which affected individuals develop both benign and malignant tumors at an increased frequency. Since the original National Institutes of Health Consensus Development Conference in 1987, there has been significant...
Tumor suppressor gene regulation of cell growth: recent insights into neurofibromatosis 1 and 2 gene function. 来自 国家科技图书文献中心 喜欢 0 阅读量: 33 作者:EJ Uhlmann,DH Gutmann 摘要: The development of cancer involves a myriad of genetic changes that impact on multiple processes important ...
Optic pathway tumors in children: the effect of neurofibromatosis type 1 on clinical manifestations and natural history. Objective: To distinguish the clinical manifestations and natural history of optic pathway tumors (OPT) associated with neurofibromatosis type 1 (NF-1 OPT... AS Paller - 《...
作者: Kevin,P.,Boyd,and,Bruce,R.,Korf,and,Amy,Theos 摘要: Neurofibromatosis type 1 (NF1) is an autosomal dominant, multisystem disorder affecting approximately 1 in 3500 people. Significant advances in the understanding of the pathophysiology of NF1 have been made in the last decade. While ...
Neurofibromatosis type 2 (NF2) with onset before the first year of life has been anecdotally reported in the literature. We (a) prospectively (years 1997–2012) followed up three unrelated NF2 children, all harbouring NF2 gene mutations whose onset of disease was before age 1year, and (b) ...
Picture 2 - Expression of the neurofibromatosis gene NF1 Von Recklinghausen neurofibromatosis is a common autosomal dominant genetic disorder characterized by benign and malignant tumors of neural crest origin. S... O Gimm 被引量: 0发表: 2013年 ...