Results 21 to 30 of about 1,890 (196)

Spécificité de la transformation sarcomateuse de la maladie de Recklinghaussen : a propos de deux cas et revue de la littérature [PDF]

, 2014
5 à 10% des patients atteints de neurofibromatose de type 1 (NF1) développent des tumeurs malignes des gaines des nerfs périphériques  (Malignant peripheral nerve sheath tumor: MPNST) contre 0.001% dans la population générale. A travers deux observations
Benjaafar, N, Bourhafour, I, Bourhafour, M, El Youbi, MBA, Errihani, H, Rabti, HM   +5 more
core   +2 more sources

Neurofibromatosis type 1 and pulmonary arterial hypertension: A case report

Revista Portuguesa de Cardiologia, 2022
Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder that affects multiple organ systems and has a wide range of clinical manifestations.
Marina Raquel Santos, Andreia Micaela Pereira   +1 more
doaj   +1 more source

Avaliação do processamento auditivo na Neurofibromatose tipo 1 Auditory processing evaluation in Neurofibromatosis type 1

Revista da Sociedade Brasileira de Fonoaudiologia, 2010
Este trabalho teve como objetivo apresentar os resultados obtidos na avaliação do processamento auditivo de um paciente com Neurofibromatose tipo 1.
Pollyanna Barros Batista, Carla Menezes da Silva, Hellen de Oliveira Valentim, Luiz Oswaldo Carneiro Rodrigues, Nilton Alves de Rezende   +4 more
doaj   +1 more source

Síndrome de moyamoya associada a neurofibromatose tipo I em paciente pediátrico [PDF]

, 2011
CONTEXT: Neurofibromatosis type 1 (NF-1) is the most prevalent autosomal dominant genetic disorder among humans. Moyamoya disease is a cerebral vasculopathy that is only rarely observed in association with NF-1, particularly in the pediatric age range ...
DARRIGO JÚNIOR, Luiz Guilherme, MACHADO, André de Aboim, SANTOS, Antonio Carlos dos, SCRIDELI, Carlos Alberto, TONE, Luiz Gonzaga, VALERA, Elvis Terci   +5 more
core   +1 more source

Neurofibromatose de type 1

, 2009
Les neurofibromatoses appartiennent au groupe des phacomatoses qui reunit un ensemble d’affections hereditaires, les plus courantes etant la neurofibromatose de type 1 (NF1), la sclerose tubereuse de Bourneville, la maladie de von Hippel-Lindau. Elles associent des anomalies du developpement, congenitales, plus ou moins etendues et multiples comprenant
Hermanns-Lê, Trinh, Devillers, Céline, Franchimont, Claudine, Pierard, Gérald   +3 more
openaire   +3 more sources

Meningoceles intratorácicas gigantes associadas a neurofibromatose tipo I: relato de caso [PDF]

, 2003
BACKGROUND: Intrathoracic meningocele is a rare pathology, almost always associated with neurofibromatosis type I and with a few cases related in the literature.
Andrade, Guilherme Cabral de, Braga, Fernando Menezes, Braga, Otávio Piccirillo, Hisatugo, Marcelo Ken-Iti, Paiva Neto, Manoel Antonio de, Succi, Ernesto   +5 more
core   +3 more sources

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

The Pan African Medical Journal, 2015
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.
Tilila Hajjad, Samir El Mazouz, Noureddine Gharib, Abdellah El Abbassi   +3 more
doaj   +1 more source

Jejunal stromal tumor and neurofibromatosis

Journal of Coloproctology, 2019
Gastrointestinal stromal tumors, although rare, are the most common primary mesenchymal neoplasms of the gastrointestinal tract and originate from the interstitial cells of Cajal.
Daniela Fonseca Lisboa Kayser, Lígia Nascimento Figueiredo Amaral, Livia Paulucci Cavalcanti Andrade, Fernando Augusto Santos Vasconcelos, Luiz Felipe de Campos-Lobato, Juliano Alves Figueiredo   +5 more
doaj   +1 more source

Mécanismes et conséquences des mutations [PDF]

, 2005
L’identification des mutations à l’origine de maladies génétiques chez l’homme a pris ces dernières années un essor considérable. Il est devenu possible d’établir le spectre des mutations délétères pour une maladie génétique donnée, et des bases de ...
Hanna, Nadine, Parfait, Béatrice, Vidaud, Dominique, Vidaud, Michel   +3 more
core   +1 more source

Syndrome in question [PDF]

, 2016
Neurofibromatosis is extremely variable in its presentation. Segmental neurofibromatosis (SNF), which corresponds to NF-type 5 in the Riccardi classification, is a rare disorder. It may go unrecognized if few lesions are observed.
Carvalho, S., Horta, M., Oujo, E., Rosmaninho, A.   +3 more
core   +3 more sources