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 …

The clinical and diagnostic implications mosaicism in the neurofibromatoses

M Ruggieri, SM Huson - Neurology, 2001 - AAN Enterprises
Neurofibromatosis type 1 and type 2 both occur in mosaic forms. Mosaicism results from
somatic mutations. Early somatic mutations cause generalized disease, clinically …

Management of the patient and family with neurofibromatosis 2: a consensus conference statement

DGR Evans, ME Baser, B O'reilly, J Rowe… - British journal of …, 2005 - Taylor & Francis
A consensus conference on neurofibromatosis 2 (NF2) was held in 2002 at the request of
the United Kingdom (UK) Neurofibromatosis Association, with particular emphasis on …

[HTML][HTML] Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

E Legius, L Messiaen, P Wolkenstein, P Pancza… - Genetics in …, 2021 - nature.com
Purpose By incorporating major developments in genetics, ophthalmology, dermatology,
and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to …

[PDF][PDF] An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c. 2970-2972 delAAT): evidence of a clinically …

M Upadhyaya, SM Huson, M Davies, N Thomas… - The American Journal of …, 2007 - cell.com
Neurofibromatosis type 1 (NF1) is characterized by café-au-lait spots, skinfold freckling, and
cutaneous neurofibromas. No obvious relationships between small mutations (< 20 bp) of …

Von Recklinghausen neurofibromatosis: a clinical and population study in south-east Wales

SM Huson, PS Harper, DAS Compston - Brain, 1988 - academic.oup.com
A population-based study in south-east Wales (population 668, 100) identified 135 patients
with von Recklinghausen neurofibromatosis (prevalence 20/105). In addition to multiple cafe …

Birth incidence and prevalence of tumor‐prone syndromes: estimates from a UK family genetic register service

DG Evans, E Howard, C Giblin, T Clancy… - American journal of …, 2010 - Wiley Online Library
Dominantly inherited tumor-prone syndromes are a significant health burden, but disease-
related morbidity can be reduced and life expectancy increased by a GR type approach …

An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.

DF Easton, MA Ponder, SM Huson… - American journal of …, 1993 - ncbi.nlm.nih.gov
Abstract Neurofibromatosis (NF) type 1 (NF1) is notable for its variable expression. To
determine whether variation in expression has an inherited component, we examined 175 …

A clinical study of type 2 neurofibromatosis

DGR Evans, SM Huson, D Donnai… - … Journal of Medicine, 1992 - academic.oup.com
The clinical features, age at onset of symptoms and survival of 150 patients with type 2
neurofibromatosis were studied. The mean age at onset was 21.57 years (n= 110) and no …

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.

SM Huson, DA Compston, P Clark… - Journal of medical …, 1989 - jmg.bmj.com
A population based study of von Recklinghausen neurofibromatosis in south east Wales
(population 668,100) identified 69 families with 135 affected members (prevalence 1/4950 of …