Results 1 to 10 of about 1,273 (212)

A diagnostic approach to neurocutaneous syndromes

Arquivos de Neuro-Psiquiatria
Neurocutaneous syndromes are a group of genetically and phenotypically diverse disorders that primarily affect the skin, central and peripheral nervous systems, and eyes.
Sofia Mônaco Gama, João Vitor Gerdulli Tamanini, Marianna Pinheiro Moraes de Moraes, Thiago Yoshinaga Tonholo Silva, Fernanda Teresa de Lima, José Luiz Pedroso, Orlando Graziani Povoas Barsottini   +6 more
doaj   +1 more source

Une tumeur maligne des gaines des nerfs périphériques compliquant la maladie de Von Recklinghausen [PDF]

, 2016
Les tumeurs malignes des gaines des nerfs périphériques ou MPNST (Malign Peripheral Nerve Sheath Tumors selon les anglo-saxons) sont des tumeurs rares qui constituent la principale complication des neurofibromatoses de type 1 (NF1) à l'âge adulte.
Abbassi, A.E., Gharib, N, Hajjad, T, Mazouz, S.E.   +3 more
core   +2 more sources

A Case of Atypical Neurofibromatous Neoplasm of Uncertain Biologic Potential: Unravelling the Enigma [PDF]

Journal of Clinical and Diagnostic Research
Neurofibromatoses are a group of genetic disorders that cause tumours to form on the nerve tissue. These tumours can progress to more proliferative lesions and can also eventually become malignant, giving rise to a Malignant Peripheral Nerve Sheath ...
Apoorva Pande, Samarth Shukla, Sourya Acharya, Pravin Gadkari, Milind Pande   +4 more
doaj   +1 more source

Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study.

PLoS ONE, 2017
The neurofibromatoses (neurofibromatosis type 1, neurofibromatosis type 2 and schwannomatosis) are rare disorders having clinical manifestations that vary greatly from patient to patient.
Mindell Seidlin, Robert Holzman, Pamela Knight, Bruce Korf, Vanessa Rangel Miller, David Viskochil, Annette Bakker, Children’s Tumor Foundation   +7 more
doaj   +1 more source

FEOCROMOCITOMA E NEUROFIBROMATOSE 1

Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2014
Introdução: Feocromocitomas são tumores originários de células cromafins do sistema simpato-adrenal. As suas manifestações clínicas são múltiplas e diversificadas, função do perfil secretório variável de múltiplos compostos, incluindo catecolaminas ...
Rui Tavares-Bello, Mafalda Marcelino, Ema L. Nobre, Luís Lopes, Carlos Lopes, João Jácome de Castro   +5 more
doaj   +1 more source

Therapeutic Development in Neurofibromatosis [PDF]

, 2019
Although neurofibromatosis (NF) was initially recognized in the nineteenth century, only in the past two decades we have witnessed a paradigm shift in therapeutics.
Korf, Bruce R., Lobbous, Mina
core   +1 more source

Características del neurofibroma plexiforme en pacientes con neurofibromatosis tipo 1. Pinar del Río Characteristics of plexiform neurofibroma in patients suffering from Type-1 Neurofibromatosis. Pinar del Rio

Revista de Ciencias Médicas de Pinar del Río, 2012
El neurofibroma plexiforme es un tumor complejo, que involucra varios tejidos. Llevan a una distorsión masiva del lugar donde se encuentran, originando problemas estéticos y médicos. Con este trabajo se pretende conocer la frecuencia de los neurofibromas
Miladys Orraca Castillo, Deysi Licourt Otero   +1 more
doaj  

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

Are the methylenetetrahydrofolate reductase 1298 and 677 gene polymorphisms related to optic glioma and hamartoma risk in neurofibromatosis type 1 patients?

The Turkish Journal of Pediatrics, 2016
The methylenetetrahydrofolate reductase (MTHFR) gene plays a key role in carcinogenesis through its effects on DNA synthesis and methylation and also has a significant role in the etiology of many disorders, such as diabetes, migraine, and ...
Hikmet Gülşah Tanyıldız, Şule Yeşil, Ceyhun Bozkurt, Mehmet Onur Çandır, Sibel Akpınar-Tekgündüz, Şule Toprak, Deniz Yüksel, Gürses Şahin   +7 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