Results 61 to 70 of about 3,260 (219)

Neurofibromatose tipo 1 - uma evolução maligna em idade pediátrica.

open access: yesActa 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

Feocromocitoma em crianças: relato de três casos [PDF]

open access: yes, 2011
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Amorim, Hugo Jefter Mendes de
core  

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

open access: yesAngewandte 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?

open access: yesActa 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

Desvios Axiais dos Membros Inferiores [PDF]

open access: yes, 2009
As deformidades axiais dos membros inferiores constituem um dos principais motivos de consulta na área de Ortopedia Infantil. Esta situação deve-se, por um lado, ao facto de haver uma grande percentagem de crianças (cerca de 20%) que apresentam uma ...
Campagnolo, J, Cassiano Neves, M
core   +2 more sources

Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review

open access: yesDevelopmental 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

Freak – Sensation – Star : zu Mythos, Determiniertheit und Aura des John Merrick in David Lynchs "The Elephant Man" [PDF]

open access: yes, 2009
Joseph Carey Merrick alias John Merrick galt bereits im Viktorianischen Zeitalter als Musterbeispiel des gesellschaftlichen Außenseiters, doch selbst im Werk von David Lynch, wo die Darstellung des Freaks gleichsam zum inhaltlichen Filminventar gehört ...
Schäfer, Jerome Philipp
core  

Primary retroperitoneal neurofibrosarcoma [PDF]

open access: yes, 2003
Malignant schwannoma or neurofibrosarcoma usually grows from the peripheral nerves and rarely from the retroperitoneum. When found in the retroperitoneum, it usually has a worse prognosis.
deOliveira, Michelle Lucinda   +1 more
core   +1 more source

Diagnostic Importance of Cutaneous Manifestations of Neurofibromatosis—A Systematic Review

open access: yesNeurology and Clinical Neuroscience, Volume 13, Issue 3, Page 165-173, May 2025.
ABSTRACT A class of hereditary diseases known as neurofibromatoses results in tumor growth on tissue from nerves. The spinal cord, nerves, and brain are among the parts of the nervous framework where these tumors can form. Similar to other genetic disorders, neurofibromatosis discloses complicated phenotypes, exhibiting varying benign and malignant ...
Hina Aslam   +11 more
wiley   +1 more source

Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo‐controlled trial

open access: yesDevelopmental Medicine &Child Neurology, Volume 67, Issue 4, Page 537-549, April 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16157 In this double‐blind, placebo‐controlled, randomized clinical trial, 31 adolescents with neurofibromatosis type 1 (NF1) were enrolled to test the effects of lamotrigine on cognitive functioning.
Myrthe J. Ottenhoff   +21 more
wiley   +1 more source

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