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 …

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 …

Somatic mosaicism—the presence of genetically distinct populations of somatic cells in a
given organism—is frequently masked, but it can also result in major phenotypic changes …

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

More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for
mutations in the NF1 gene. For each patient, the whole coding sequence and all splice sites …

Segmental neurofibromatosis (NF) is generally thought to result from a postzygotic NF1
(neurofibromatosis type 1) gene mutation. However, this has not yet been demonstrated at …

Acyl-CoA: glycerol-3-phosphate acyltransferase (GPAT) and acyl-CoA: 1-acyl-glycerol-3-
phosphate acyltransferase (AGPAT) are involved in the de novo synthesis of triacylglycerol …

Analyses of genome-wide association study (GWAS) data have revealed that detectable
genetic mosaicism involving large (> 2 Mb) structural autosomal alterations occurs in a …

A predominance of de novo mutations in the paternal germ line has been reported for
several disorders; however, in familial adenomatous polyposis (FAP), the parental origin of …

Although CpG dinucleotides remain the primary site for DNA methylation in mammals, there
is emerging evidence that DNA methylation at non-CpG sites (CpA, CpT and CpC) is not …