Results 41 to 50 of about 24,573,602 (141)

Neurofibromatose Tipo 2: um relato de caso [PDF]

A Neurofibromatose tipo 2 (NF2) é uma condição neoplásica rara secundária a mutação de um gene supressor tumoral, que culmina com o desenvolvimento de múltiplos tumores no sistema nervoso, sendo os mais característicos o schwannomas vestibulares ...
de Carvalho, Maíra Rocha Machado, Belchior, Ana Clara Fernandes, da Silva, Eduarda Késsia Pereira   +2 more
core   +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

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

La neurofibromatose 1

, 2001
La neurofibromatose 1 (NF1) est une maladie autosomique dominante qui atteint environ 1 individu sur 4 000. Le gène NF1 situé sur le chromosome 17 en q11.2 est constitué d’un domaine d’environ 335 kilobases et code pour une protéine de 2 818 acides ...
Pierre Wolkenstein
core   +1 more source

Diagnostic Importance of Cutaneous Manifestations of Neurofibromatosis—A Systematic Review

Neurology 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, Inshal Jawed, Ali Farhan, Vikash Karmani, Agha Muhammad Wali Mirza, Farah Alam, Hina Khan, Abdul Haseeb, Mohammad Omer Alam, Javed Iqbal, Brijesh Sathian, Abu Huraira Bin Gulzar   +11 more
wiley   +1 more source

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

Developmental 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, Sabine E. Mous, Jesminne Castricum, André B. Rietman, Rianne Oostenbrink, Thijs van der Vaart, Joke H. M. Tulen, Alba Parra, Federico J. Ramos, Eric Legius, Henriette A. Moll, Ype Elgersma, Marie‐Claire Y. de Wit, ENCORE Expertise Center for NF1, Walter Taal, Sarah van Dijk, Laura de Graaff, Yvette van Ierland, Margreethe van Vliet, Jeroen Legerstee, Pieter de Nijs, Maarten van Schijndel   +21 more
wiley   +1 more source

An Unexplored Diversity for Adaptation of Germination to High Temperatures in Brassica Species

Evolutionary Applications, Volume 18, Issue 3, March 2025.
ABSTRACT Elevated temperatures inhibit the germination of a concerning number of crop species. One strategy to mitigate the impact of warming temperatures is to identify and introgress adaptive genes into elite germplasm. Diversity must be sought in wild populations, coupled with an understanding of the complex pattern of adaptation across a broad ...
M. Tiret, M.‐H. Wagner, L. Gay, E. Chenel, A. Dupont, C. Falentin, L. Maillet, F. Gavory, K. Labadie, S. Ducournau, A.‐M. Chèvre   +10 more
wiley   +1 more source

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.
Poças, Ilda, Ascensão, Ana, Fazenda, Paula, Branco, Telma, Rodrigues, Tânia   +4 more
core  

Comprehensive Multi-Modal Radiological Diagnostics of Neurofibromatosis

Вестник рентгенологии и радиологии
Objective: to analyze the possibilities and study the informative value of computed tomography (CT) and magnetic resonance imaging (MRI) in visualizing the clinical manifestations of neurofibromatosis.Material and methods. Based on retrospective analysis
A. A. Malov, A. S. Makarova, E. A. Portnova   +2 more
doaj   +1 more source

Neurofibromatose infantil: relato de caso / Infant neurofibromatosis: case report [PDF]

, 2019
A neurofibromatose é uma síndrome neurocutânea que afeta o cérebro, a coluna vertebral e nervos e a pele. Os neurofibromas são nódulos não cancerosos (benignos) da cor da pele formados por células de Schwann que formam uma cobertura em volta das fibras ...
Tupiná, Maísa Souza, Duarte, Iuly Marjorie, Silva, Guilherme Augusto Félix da, Thomaz, Araceli Helenna Pires Sena, Thomaz, Vagner Augusto de Melo Sena, Santos, Lanucy Peixoto dos, Cunha, Isadora Rabelo, Moura, Thamillys Taveira Teodoro de   +7 more
core   +1 more source