Results 41 to 50 of about 1,890 (196)

Neurofibromatose tipo 1: a propósito de um caso clínico [PDF]

, 2013
A neurofibromatose é uma doença neurocutânea, genética, autossómica dominante. crónica e progressiva. Tem sido observada em todas as raças e em ambos os sexos.
Ascensão, Ana, Branco, Telma, Fazenda, Paula, Poças, Ilda, Rodrigues, Tânia   +4 more
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Interventions supporting the empowerment of parent carers of children with neurodisability and other long‐term health conditions: A scoping review

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, Morwenna Rogers, Phillip Harniess, Fatema Shamsaddin, Caomhán McGlinchey, Jane R Smith, Sally Kendall, Christopher Morris   +7 more
wiley   +1 more source

Thalamic intracerebral schwannoma: case report [PDF]

, 2002
The intracranial schwannomas cover about 8% of all the brain tumors, although, those localized inside the encephalic parenchyma are rare only 55 cases being reported in the literature.
Andrade, Guilherme Cabral De, Braga, Fernando Menezes, Paiva Neto, Manoel Antonio de   +2 more
core   +2 more sources

L'atteinte vésicale au cours de la neurofibromatose de Von Recklinghausen

The Pan African Medical Journal, 2014
La neurofibromatose de type 1 ou maladie de Von Recklinghausen est une maladie génétique autosomique dominante en rapport avec des mutations dans le gène suppresseur de tumeur NF1. L'atteinte uro-génitale au cours de cette maladie est rare et moins de 80
Mohamed Hicham Benazzouz, Tilila Hajjad, Younes Essatara, Hachem El Sayegh, Ali Iken, Lounis Benslimane, Yassine Nouini   +6 more
doaj   +1 more source

Nanodroplet‐Array‐Plattform zur integrierten Synthese und Screening von MEK Inhibitoren: Ein miniaturisierter Ansatz für die frühe Pharmaforschung

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, Julius Höpfner, Liana Bauer, Divya Varadharajan, Stefan Schmidt, Björn Fröhlich, Benjamin Wellenhofer, Charlotte Luchena, Carsten Hopf, Anna A. Popova, Pavel A. Levkin   +10 more
wiley   +1 more source

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, Sahar Messaoudi, Dounia Jaafar, Anass Ayyad, Rim Amrani   +4 more
doaj   +1 more source

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, Noronha, C, Pires da Silva, I, Riscado, M, Sousa, M   +4 more
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Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review

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, Velda X. Han, Shrujna Patel, Michelle A. Farrar, Deepak Gill, Shekeeb S. Mohammad, Russell C. Dale   +6 more
wiley   +1 more source

Tumor maligno da bainha dos nervos periféricos do pulmão: A propósito de um caso clínico

Revista Portuguesa de Pneumologia, 2010
Resumo: Os tumores malignos da bainha dos nervos periféricos correspondem a um grupo raro de sarcomas de tecidos moles que tendem a ocorrer em doentes com neurofibromatose tipo 1 ou vários anos após tratamentos de radioterapia.
N. Serrano Marçal, E. Teixeira, R. Sotto-Mayor, A. Manique, P. Campos, J. Cruz, M. Mendes de Almeida, A. Bugalho de Almeida   +7 more
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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