Based on engineered or bacterial nucleases, the development of genome editing
technologies has opened up the possibility of directly targeting and modifying genomic …

Abstract Background Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man
(OMIM)# 162200) is an autosomal dominantly inherited tumour predisposition syndrome …

Purpose By incorporating major developments in genetics, ophthalmology, dermatology,
and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to …

Ras genes are the most common targets for somatic gain-of-function mutations in human
cancer. Recently, germline mutations that affect components of the Ras–Raf–mitogen …

Neurofibromatosis type 1 (NF1) is an autosomal dominant, multisystem disorder affecting
approximately 1 in 3500 people. Significant advances in the understanding of the …

The prevalence of neurofibromatosis type 1 (NF1) is about 1/3,000. There are no known
ethnic groups in which NF1 does not occur or is unusually common. The prevalence is …

New human mutations are thought to originate in germ cells, thus making a recurrence of the
same mutation in a sibling exceedingly rare. However, increasing sensitivity of genomic …

Background Germline mutations and deletions of SMARCB1/INI1 in chromosome band
22q11. 2 predispose patients to rhabdoid tumor and schwannomatosis. Previous estimates …

Abstract Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an
autosomal dominant condition caused by mutations of the NF1 gene, which is located at …

Neurofibromatosis type 1 and type 2 both occur in mosaic forms. Mosaicism results from
somatic mutations. Early somatic mutations cause generalized disease, clinically …