Neurofibromatosis type 1: a multidisciplinary approach to care

AC Hirbe, DH Gutmann - The Lancet Neurology, 2014 - thelancet.com
Neurofibromatosis type 1 is a relatively common inherited disorder. Patients have a high
predisposition to develop both benign and malignant tumours. Although many …

A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor

N Ratner, SJ Miller - Nature Reviews Cancer, 2015 - nature.com
Abstract Neurofibromatosis type 1 (NF1) is a common genetic disorder that predisposes
affected individuals to tumours. The NF1 gene encodes a RAS GTPase-activating protein …

Comparison of cancer prevalence in patients with neurofibromatosis type 1 at an academic cancer center vs in the general population from 1985 to 2020

JP Landry, KL Schertz, YJ Chiang, AD Bhalla… - JAMA Network …, 2021 - jamanetwork.com
Importance Neurofibromatosis type 1 (NF1) is a complex genetic disorder that is associated
with not only neurofibromas, but also an increased susceptibility to other neoplasms …

Health supervision for children with neurofibromatosis type 1

DT Miller, D Freedenberg, E Schorry, NJ Ullrich… - …, 2019 - publications.aap.org
Neuroibromatosis type 1 (NF1) is a multisystem disorder that primarily involves the skin and
peripheral nervous system. Its population prevalence is approximately 1 in 3000. The …

Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966

C Bergqvist, A Servy, L Valeyrie-Allanore… - Orphanet Journal of …, 2020 - Springer
Neurofibromatosis type 1 is a relatively common genetic disease, with a prevalence ranging
between 1/3000 and 1/6000 people worldwide. The disease affects multiple systems with …

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

RE Ferner, SM Huson, N Thomas, C Moss… - Journal of medical …, 2007 - jmg.bmj.com
Neurofibromatosis 1 (NF1) is a common neurocutaneous condition with an autosomal
dominant pattern of inheritance. The complications are diverse and disease expression …

Lessons on the pathogenesis of aneurysm from heritable conditions

ME Lindsay, HC Dietz - Nature, 2011 - nature.com
Aortic aneurysm is common, accounting for 1–2% of all deaths in industrialized countries.
Early theories of the causes of human aneurysm mostly focused on inherited or acquired …

[HTML][HTML] Clinical and genetic aspects of neurofibromatosis 1

K Jett, JM Friedman - Genetics in Medicine, 2010 - Elsevier
Neurofibromatosis 1 is an autosomal dominant disorder characterized by multiple café-au-
lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch …

Neurofibromatosis type 1 revisited

VC Williams, J Lucas, MA Babcock, DH Gutmann… - …, 2009 - publications.aap.org
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a worldwide
incidence of∼ 1 per 2500 to 3000 individuals. Caused by a germ-line–inactivating mutation …

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease

DC Guo, CL Papke, V Tran-Fadulu… - The American Journal of …, 2009 - cell.com
The vascular smooth muscle cell (SMC)-specific isoform of α-actin (ACTA2) is a major
component of the contractile apparatus in SMCs located throughout the arterial system …