Neurofibromatosis type 1 (NF1), also referred to as Recklinghausen's disease, affects about 1 in 3500 individuals and presents with a variety of char- acteristic abnormalities of the skin and the peripheral nervous system. Neurofibromatosis type 2 (NF2), pre- viously termed central ...
Clinical and epidemiologic features in NF1 Café-au-lait spots and neurofibromas are defining features of neurofibromatosis 1 (NF1), but they vary greatly in number, size, and clinical importance fr... J Friedman - 《Neurofibromatosis Phenotype Natural History & Pathogenesis》 被引量: 7发表: 199...
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions Background Large deletions of the NF1 gene region occur in ~5% of patients with neurofibromatosis type-1 (NF1) and are associated with particularly severe ... VF Mautner,L ...
Importantly, a large proportion of children are able to complete quantitative VA testing at enrollment. Once enrollment is complete, these data will help to establish evidence-based guidelines for clinical management of NF1-OPGs.Neuro-Oncology
Objective:To report the clinical and pathological features of 3 female 46,XY disorders of sex development(DSD) cases,and detect their causative mutations.Methods:A total of 3 female DSD patients were enrolled from 2010 to 2015 by Department of Gynaecology of Shenzhen Maternity and Child Healthcare...
NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas Article Open access 16 May 2024 A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing Article Open access 07 August 2020 A novel nonsense mutation of ERCC2 in a Vietna...
This volume provides an important overview of recent findings on the neurofibromatoses. It focuses on the genetics and molecular biology underlying these diseases, but also covers their clinical features, diagnosis and treatment, stressing the need for interdisciplinary medical care. With contributions ...
hematopoietic stem cell transplantation; JMML, juvenile myelomonocytic leukemia; NF1, neurofibromatosis type 1; NS, Noonan syndrome; OS, Overall survival 334 CLINICAL FEATURES AND MUTATIONS IN JMML 335 either identification of an NF1 mutation or a clinical diagnosis of NF1, are currently key diagnost...
of neurofibromatoses, type 1 (NF1) and type 2 (NF2), have been shown to be distinctive disorders both clinically and genetically. More recently, allelic and non-allelic subtypes of NF1 have been defined as well as the NF2-related condition schwannomatosis. Many of the complex molecular ...
Recent rapid biotechnological breakthroughs have led to the identification of complex and unique molecular features that drive malignancies. Precision medicine has exploited next-generation sequencing and matched targeted therapy/immunotherapy deployment