Results 91 to 100 of about 1,273 (212)

Relapsing remitting multiple sclerosis in an Iranian patient with neurofibromatosis type I [PDF]

, 2015
Neurofibromatosis type 1 (NF-1) is a common hereditary neurocutaneous disease, with known gene mutations, that mainly involves the skin and nervous system.
Moghaddasi, M., Mohebi, N., Zaribafian, M.   +2 more
core   +1 more source

Gonadales und gonadosomatisches Neurofibromatose‐Typ‐1‐Mosaik: ein Bericht über zwei Familien

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 22, Issue 3, Page 426-429, 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

Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France

Orphanet Journal of Rare Diseases, 2011
Background Neurofibromatosis 1 (NF1), a common autosomal dominant disorder, was shown in one study to be associated with a 15-year decrease in life expectancy. However, data on mortality in NF1 are limited.
Hadj-Rabia Smaïl, Ferkal Salah, Vialette Cédric, Valeyrie-Allanore Laurence, Sbidian Emilie, Duong Tu, Glorion Christophe, Lyonnet Stanislas, Zerah Michel, Kemlin Isabelle, Rodriguez Diana, Bastuji-Garin Sylvie, Wolkenstein Pierre   +12 more
doaj   +1 more source

Utilização da tração halo-craniana pré-operatória no tratamento de deformidades vertebrais de alto valor angular Uso de tracción halo gravitacional en el tratamiento quirúrgico de las deformidades graves de la columna vertebral Halo gravity preoperative traction in severe spine deformities treatment

Coluna/Columna, 2010
OBJETIVOS: avaliar o resultado do tratamento cirúrgico das deformidades acentuadas da coluna vertebral por meio da utilização da tração halo-gravitacional.
Maximiliano Aguiar Porto, Carlos Fernando Pereira da Silva Herrero, Marcello Henrique Nogueira-Barbosa, Helton LA Defino   +3 more
doaj   +1 more source

La neurofibromatose 1 [PDF]

médecine/sciences, 2001
La neurofibromatose 1 (NF1) est une maladie autosomique dominante qui atteint environ 1 individu sur 4 000. Le gene NF1 situe sur le chromosome 17 en q11.2 est constitue d’un domaine d’environ 335 kilobases et code pour une proteine de 2 818 acides amines, la neurofibromine. C’est un gene suppresseur de tumeur.
openaire   +1 more source

Epidemiological, clinical and genetic aspects of neurofibromatoses in Northern Finland [PDF]

, 1999
A population-based study to investigate the epidemiological, genetic and clinical features of neurofibromatoses (NF) in Northern Finland was carried out between 1989–1996.
Pöyhönen, Minna
core  

Neurofibromatosis: chronological history and current issues Neurofibromatose: histórico cronológico e aspectos atuais

Anais Brasileiros de Dermatologia, 2013
Neurofibromatosis, which was first described in 1882 by Von Recklinghausen, is a genetic disease characterized by a neuroectodermal abnormality and by clinical manifestations of systemic and progressive involvement which mainly affect the skin, nervous ...
João Roberto Antônio, Eny Maria Goloni-Bertollo, Lívia Arroyo Trídico   +2 more
doaj  

Potential Molecular Targets in the Treatment of Patients with CNS Tumors. [PDF]

Cancers (Basel), 2023
Pan E.
europepmc   +1 more source

NF1 tumor suppressor in skin : Expression in response to tissue trauma and in cellular differentiation [PDF]

, 2002
Type 1 neurofibromatosis (NF1) syndrome is caused by a mutation of the NF1 gene. NF1 protein (neurofibromin) contains a domain which is related to the GTPase activating protein (GAP) and accelerates the switch of active Ras-GTP to inactive Ras-GDP.
Ylä-Outinen, Heli
core  

Schwannomas in the head and neck: retrospective analysis of 21 patients and review of the literature

São Paulo Medical Journal
CONTEXT AND OBJECTIVE: Schwannomas are benign neoplasms of the peripheral nerves originating in the Schwann cells. According to their cellularity, they can be subdivided into Antoni A or Antoni B types.
Erwin Langner, André Del Negro, Hugo Kenzo Akashi, Priscila Pereira Costa Araújo, Alfio José Tincani, Antonio Santos Martins   +5 more
doaj   +1 more source