Results 31 to 40 of about 503 (171)
Grande tache pigmentée pileuse révélant une forme familiale de la maladie de Von Recklinghausen
The Pan African Medical Journal, 2015 La neurofibromatose de type 1 (NF1) ou maladie de Von Recklinghausen appartient au groupe de maladies appelé phacomatose. C'est une affection autosomique dominante relativement rare.
Anass Es seddiki +4 more
doaj +1 more source
Shwannoma unilateral do acústico em criança sem associação com neurofibromatose
Brazilian Neurosurgery, 2011 Schwannomas do acústico representam 8% dos tumores intracranianos primários do adulto, havendo apenas 20 casos relatados em crianças sem associação com neurofibromatose.
Gisele Alborghetti Nai +3 more
doaj +1 more source
Developmental Medicine &Child Neurology, Volume 68, Issue 4, Page 489-500, April 2026.This scoping review identified 145 different interventions designed to support parent carer empowerment. These interventions have been catalogued and are presented in an interactive, online database. Abstract Aim To compile information about interventions that have been developed to support the empowerment of parent carers of children and young people ...
Jim Reeder +7 more
wiley +1 more source
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 +4 more
doaj +1 more source
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 +1 more
doaj +1 more source
Nodules de lisch dans la neurofibromatose type 1
The Pan African Medical Journal, 2017 La neurofibromatose 1 (NF1) ou maladie de Von Recklinghausen est une maladie qui se manifeste par des taches café au lait cutanées et des neurofi bromes. C'est une des maladies génétiques les plus fréquentes à transmission autosomique dominant.
Yassine Abaloun, Yousra Ajhoun
doaj +1 more source
Neurofibroma Plexiforme Vesical em Portador de Neurofibromatose: Relato de caso
Revista Brasileira de Cancerologia, 2018 Introdução: A neurofibromatose do tipo 1 (NF1) e uma doença hereditária de caráter autossômico dominante, com reentrância completa e relacionada a mutações no gene NF1 (17q11.2).
Ana Carolina Bonini Domingos +3 more
doaj +1 more source
Neurofibromatose tipo 1 - uma evolução maligna em idade pediátrica.
Acta Médica Portuguesa, 2010 Neurofibromatosis type 1 is an autosomal dominant disease affecting one in 3000 to one in 4000 people, with a great variability of clinical expression.
Sérgia Soares +4 more
doaj +1 more source
Angewandte Chemie, Volume 137, Issue 48, November 24, 2025.Wir präsentieren eine Nanodroplet‐Array‐Plattform, die die Integration von Festphasensynthese, MALDI‐MS‐Analyse und zellbasiertem Screening von 325 potenziellen MEK‐Inhibitoren (Mitogen‐aktivierte‐Proteinkinase‐Kinase) in Nanoliter‐Volumina ermöglicht.
Maximilian Seifermann +10 more
wiley +1 more source
Neurofibromatose tipo 1 em idade pediátrica: o que vigiar?
Acta Médica Portuguesa, 2008 Neurofibromatosis type 1 (NF1) is one of the most common neurocutaneous disorders. It is an autosomal dominant hereditary condition, although an half of all cases are related with spontaneous mutations. Mutations within NF1 gene (c17q11.2) result in loss
Cristina L Martins +4 more
doaj +1 more source