Results 91 to 100 of about 971 (198)

Clinical Management of Children and Adolescents with Neurofibromatosis Type 1 Like Phenotypes and Complex Behavioural Manifestations: A Multidisciplinary and Dimensional Approach

Case Reports in Psychiatry, 2019
Introduction. Cognitive and behavioural problems associated with Neurofibromatosis type 1 (NF1) are common sources of distress and the reasons behind seeking help.
Ana Moscoso, Aurélie Julien, Antoine Tanet, Angèle Consoli, Martine Pagnard, France Trevisan, Isabelle Kemlin, Diana Rodriguez, David Cohen   +8 more
doaj   +1 more source

Increasing access to specialty care for rare diseases: a case study using a foundation sponsored clinic network for patients with neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis

BMC Health Services Research, 2018
Background Our primary aim was to assess the ability of a non-profit foundation-sponsored clinic network to facilitate access to specialized care for patients with neurofibromatoses (NF), a group of neurogenetic disorders including NF1, NF2, and ...
Vanessa L. Merker, Annie Dai, Heather B. Radtke, Pamela Knight, Justin T. Jordan, Scott R. Plotkin   +5 more
doaj   +1 more source

Oral Levodopa Therapy, Vitamin B6 and Peripheral Neuropathy: A Cross‐Sectional Observational Study

Movement Disorders Clinical Practice, Volume 12, Issue 1, Page 120-122, January 2025.
Catherine Déry, Charlie Buchmann, Geneviève Labrecque, Vicky Caron, David Simonyan, Mathieu Blais, Manon Bouchard, Nicolas Dupré   +7 more
wiley   +1 more source

Genetic predisposition to peripheral nerve neoplasia: Diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes

, 2012
Neoplasms of the peripheral nerve sheath represent essential clinical manifestations of the syndromes known as the neurofibromatoses. Although involvement of multiple organ systems, including skin, central nervous system, and skeleton, may also be ...
Stratakis, Constantine A., Rodriguez, Fausto J., Evans, D. Gareth; id_orcid   +2 more
core   +1 more source

Gonadal and gonadosomatic mosaicism in NF1: report of two families

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 22, Issue 3, Page 426-428, March 2024.
Magdalena Seidl‐Philipp, Nathalie Veyt, Simon Schnaiter, Anne Krogsdam, Simon Schwendinger, Ophélia Maertens, Christine Fauth, Matthias Schmuth, Eric Legius, Katharina Wimmer, Hilde Brems   +10 more
wiley   +1 more source

The neurofibromatoses: when less is more [PDF]

Human Molecular Genetics, 2001
The study of cancer predisposition syndromes presents unique opportunities to gain insights into the genetic events associated with tumor pathogenesis. Individuals with two inherited cancer syndromes, neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2), develop both benign and malignant tumors. The corresponding genes mutated in these two disorders
openaire   +2 more sources

Meningiomas occurring during long-term survival after treatment for childhood cancer

, 2014
Childhood cancer is rare but improvements in treatment over the past five decades have resulted in a cohort of more than 30,000 long-term survivors of childhood cancer in the UK with more added annually.
Kennedy, C.R., Bhangoo, R., Pretorius, P., Sugden, E., Taylor, A.   +4 more
core   +1 more source

Neurofibromatosis 2: finding the gene (A study of teh processes involved in finding a new gene locus using NF2 as a case study)

, 2008
The Neurofibromatoses are two autosomal dominant disorders classified as Neurofibromatoses type1 (NF1) and Neurofibromatoses type2 (NF2). They are primarily neural tumours with distinct clinical and genetic characteristics even though areas of clinical ...
A Femi Shofu, Femi Shofu, A, Daramola, A O, A O Daramola   +3 more
core   +1 more source

Les neurofibromatoses de type I

, 2022
La neurofibromatose de type 1 est une maladie génétique, héréditaire dans la moitié des cas. Elle regroupe différentes manifestations, qu’elles soient cutanées, ophtalmologiques, neurologiques ou autres.
Charvin, Émie, Bakiri, Inès, Fort, Alexandre   +2 more
core  

The neurofibromatoses /

, 1995
"April 1995"--P.
National Institutes of Health (U.S.), National Institute of Neurological Disorders and Stroke (U.S.). Office of Scientific and Health Reports.   +1 more
core