Results 1 to 10 of about 503 (171)

Neurofibromatose 1: à propos d'un cas historique [PDF]

The Pan African Medical Journal, 2014
La neurofibromatose 1 (NF1) ou maladie de Von Recklinghausen est une maladie génétique fréquente. C'est une affection autosomique dominante qui se caractérise par une expression clinique variable au sein d'une même famille.
Nada El Moussaoui, Nadia Ismaili
doaj   +3 more sources

Neurofibromatoses: part 1 ? diagnosis and differential diagnosis [PDF]

Arquivos de Neuro-Psiquiatria, 2014
Neurofibromatoses (NF) are a group of genetic multiple tumor growing predisposition diseases: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH), which have in common the neural origin of tumors and cutaneous signs ...
Luiz Oswaldo Carneiro Rodrigues, Pollyanna Barros Batista, Eny Maria Goloni-Bertollo, Danielle de Souza-Costa, Lucas Eliam, Miguel Eliam, Karin Soares Gonçalves Cunha, Luiz Guilherme Darrigo Junior, José Roberto Lopes Ferraz Filho, Mauro Geller, Ingrid F. Gianordoli-Nascimento, Luciana Gonçalves Madeira, Leandro Fernandes Malloy-Diniz, Hérika Martins Mendes, Débora Marques de Miranda, Erika Cristina Pavarino, Luciana Baptista-Pereira, Nilton A. Rezende, Luíza de Oliveira Rodrigues, Carla Menezes da Silva, Juliana Ferreira de Souza, Márcio Leandro Ribeiro de Souza, Aline Stangherlin, Eugênia Ribeiro Valadares, Paula Vieira Teixeira Vidigal   +24 more
doaj   +4 more sources

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   +3 more sources

La neurofibromatose de type 1

The Pan African Medical Journal, 2013
La neurofibromatose de type 1(NF1) ou maladie de Von Recklinghausen est la plus fréquente des phacomatoses. C'est une affection autosomique dominante, où les mutations de novo concernent 50 % des patients.
Fadwa El Amrani, Nadia Ismaili
doaj   +2 more sources

Neurofibromatose Tipo 1: Envolvimento Cutâneo Exuberante

Acta Médica Portuguesa, 2020
N/a.
Sandra Ferreira, Manuela Selores, Tiago Torres   +2 more
doaj   +3 more sources

Neurofibromatose type 1 : à propos d´un cas

PAMJ Clinical Medicine, 2020
Nous rapportons le cas d´un patient de 30 ans , qui a comme antécédent une consanguinité de 1er degré, qui consulte pour une baisse de l´acuité visuelle progressive aux deux yeux.
Alae El Bouaychi, Fatiha Boudguigue
doaj   +2 more sources

NEUROFIBROMATOSE TIPO 1 SEGMENTAR OU EM MOSAICO: A PROPÓSITO DE 2 DOENTES

Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2014
A neurofibromatose tipo 1 (NF1) segmentar caracteriza-se pela presença das manifestações típicas da NF1 circunscritas a um ou mais segmentos corporais e geralmente localizadas unilateralmente.
Paulo Morais, Fortunato Vieira
doaj   +1 more source

Heterozygous NF1 dermal fibroblasts modulate exosomal content to promote angiogenesis in a tissue‐engineered skin model of neurofibromatosis type‐1

Journal of Neurochemistry, Volume 167, Issue 4, Page 556-570, November 2023., 2023
In this study, we investigated the influence of dermal fibroblast in modifying the surrounding microenvironment. Neovascularization plays a crucial role in neurofibromas formation, growth, and malignant transformation. Using NF1‐derived tissue‐engineered skins, we showed that NF1 heterozygosity in human dermal fibroblasts promoted angiogenesis through ...
Vincent Roy, Alexandre Paquet, Lydia Touzel‐Deschênes, Hélène T. Khuong, Nicolas Dupré, Francois Gros‐Louis   +5 more
wiley   +1 more source

Survival and long‐term socioeconomic consequences of childhood and adolescent onset of brain tumours

Developmental Medicine &Child Neurology, Volume 65, Issue 7, Page 942-952, July 2023., 2023
Abstract Aim To evaluate survival distributions, long‐term socioeconomic consequences, and health care costs in patients with childhood and adolescent onset of brain tumours in a Danish nationwide prospective cohort study. Method A search of national registries identified 2283 patients (1198 males, 1085 females; mean age 9 years 6 months [SD 5 years 7 ...
Line Pickering, Katharina M. Main, Ulla Feldt‐Rasmussen, Astrid Sehested, René Mathiasen, Marianne Klose, Rikke Ibsen, Jakob Kjellberg, Poul Jennum   +8 more
wiley   +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