Results 61 to 70 of about 548 (179)

Gonadal and gonadosomatic mosaicism in NF1: report of two families

open access: yes
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 22, Issue 3, Page 426-428, March 2024.
Magdalena Seidl‐Philipp   +10 more
wiley   +1 more source

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

open access: yes
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 22, Issue 3, Page 426-429, March 2024.
Magdalena Seidl‐Philipp   +10 more
wiley   +1 more source

Maladie de Von Recklinghausen compliquée de Neurofibromes plexiformes cervico-faciaux

open access: yesThe Pan African Medical Journal, 2015
La neurofibromatose de type 1 (NF1), appelée également maladie de Von Recklinghausen, est une affection autosomique dominante caractérisée par son polymorphisme clinique.
Madiha Mahfoudhi, Khamassi Khaled
doaj   +1 more source

Neurofibromatose e doença arterial oclusiva intracraniana extensa (doença de Moya-Moya): registro de um caso

open access: yesArquivos de Neuro-Psiquiatria, 1986
O caso de urna paciente de 33 anos com neurofibromatose e lesões vasculares intracranianas do tipo Moya-Moya é discutido com relação a aspectos clínicos e angiográficos.
C. M. Gracia   +3 more
doaj   +1 more source

The neurofibromatoses: when less is more [PDF]

open access: yesHuman 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

Neurofibrossarcoma associado a neurofibromatose

open access: yesRevista do Colégio Brasileiro de Cirurgiões
The clinical and pathological aspects of neurofibromatosis are summarized and an updated pathogeny of the tumor is made. The malignancy of the NFS senns to be linled to the NF - 1 gene mutations, with loss of the suppressor gene in the chromosone 17 pl ...
Alcino Lázaro da Silva   +1 more
doaj   +1 more source

Jejunal stromal tumor and neurofibromatosis

open access: yesJournal 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   +5 more
doaj   +1 more source

Neurofibromatose tipo 1: relato de um caso clínico

open access: yesRevista Portuguesa de Medicina Geral e Familiar, 2013
Introdução: A neurofibromatose tipo 1 (NF1) é uma doença neurocutânea de hereditariedade autossómica dominante, ocorrendo mutações de novo em cerca de metade dos casos.
Ana Catarina Marques, Fátima Dinis
doaj   +1 more source

CORRECTION OF SEVERE DYSTROPHIC SCOLIOSIS IN NEUROFIBROMATOSIS 1 WITH POSTERIOR VERTEBRAL COLUMN RESECTION IN MULTIPLE LEVELS

open access: yesColuna/Columna
Objective To evaluate the results after multiple posterior vertebral column resection (PVCR) in patients with severe kyphoscoliosis secondary to neurofibromatosis type 1 (NF-1).
ALDERICO GIRÃO CAMPOS DE BARROS   +5 more
doaj   +1 more source

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