Results 41 to 50 of about 3,674 (207)
Portuguese Journal of Pediatrics (former Acta Pediátrica Portuguesa), 2016 Portuguese Journal of Pediatrics, Vol. 47 No. 4 (2016)
Rebelo, Alícia +2 more
openaire +2 more sources
Phaeochromocytoma Associated to Von Recklinghausen Neurofibromatosis Type I: a Rare Clinical Case [PDF]
, 2011 Os feocromocitomas são neoplasias originárias das células cromafins da crista neural localizados, na sua grande maioria, na medula supra-renal, podendo também aparecer nos gânglios simpáticos (paragangliomas).
Jorge, V +4 more
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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 +1 more source
Cognitive deficits in children with neurofibromatosis Type I: from recognition to treatment [PDF]
, 2008 __Abstract__ Over the past few years, mouse models have significantly contributed to our understanding of the molecular mechanisms underlying cognitive dysfunction in genetic disorders.
Krab, L.C. (Lianne)
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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
The Pan African Medical Journal, 2019 Lentigines sont des macules hyperpigmentées, de petite taille (1 à 3mm), qui se distinguent des éphélides: par leur teinte plus foncée (brune ou noire) et par leur absence de modification après exposition solaire.
Fatima-Zahra Agharbi
doaj +1 more source
Jornal de Pediatria, 2007 OBJETIVO: Avaliar a prevalência de neurofibroma plexiforme em crianças e adolescentes com neurofibromatose tipo 1 e seu potencial de transformação maligna. MÉTODOS: Estudo retrospectivo realizado através da análise do banco de dados do Centro Nacional de
Luiz G. Darrigo Jr. +3 more
doaj +1 more source
Feocromocitoma em crianças: relato de três casos [PDF]
, 2011 Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Amorim, Hugo Jefter Mendes de
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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 +3 more
core +1 more source
Developmental Medicine &Child Neurology, Volume 67, Issue 8, Page 1004-1025, August 2025.Why does infantile epileptic spasms syndrome (IESS) occur with a variety of underlying conditions and why does it respond to adrenocorticotrophin hormone (ACTH)/corticosteroids? Our scoping review summarizes five hypotheses from the literature: gene/epigenetic regulation, stress/HPA axis activation, neuroinflammation/immune function, altered neuronal ...
Emily A. Innes +6 more
wiley +1 more source