Pre-mRNA splicing is a key controller of human gene expression. Disturbances in splicing
due to mutation lead to dysregulated protein expression and contribute to a substantial …

Abstract Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder
caused by mutations in the NF1 gene. In this paper we report our experience using the …

Current evidence suggests a significant role of aberrant splicing in the development and
maintenance of malignancy. This multistep, tightly regulated epigenetic process leads to the …

Neurofibromatosis type 1, also called von Recklinghausen's disease, is an autosomal
dominant disorder linked to chromosome 17, characterized by growth impairment of the …

The aim of this study was to assess the prevalence and type of congenital heart disease
(CHD) and the associated mutation spectrum in a large series of patients with …

Abstract Background Neurofibromatosis type 1 (NF1) is characterized by an extreme clinical
variability both within and between families that cannot be explained solely by the nature of …

Nearly 35% of all mutations identified in the muscle glycogen phosphorylase gene (PYGM)
in patients with McArdle disease result in premature termination codons (PTCs), particularly …

Background Neurofibromatosis type 1 is one of the most common autosomal dominant
disorders, affecting about 1: 3,500 individuals. NF1 exon 7 displays weakly defined exon …

BACKGROUND & AIMS: Germline mutations in the APC gene cause of most cases of
familial adenomatous polyposis (FAP) and a lesser proportion of attenuated FAP (AFAP) …

Type 4 Waardenburg syndrome represents a well define entity caused by neural crest
derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and …