Results 51 to 60 of about 2,439 (246)

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

Síndrome de microdeleción en la neurofibromatosis tipo- 1: presentación de un caso Microdeletion syndrome in neurofibromatosis type-1: a case report

Revista de Ciencias Médicas de Pinar del Río, 2011
La neurofibromatosis tipo 1 es una enfermedad genética neuroectodérmica, en la que han sido descritas diferentes tipos de mutaciones en el gen NF1, cuyo locus está en el cromosoma 17 y en este mapean miles de genes; algunos de ellos se encuentran en ...
Miladys Orraca Castillo, Deysi Licourt Otero, Ana Isabel Sánchez Álvarez de La Campa   +2 more
doaj  

Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases: Five-year Experience of a Pediatric Tertiary Hospital in Portugal

Acta Médica Portuguesa, 2023
Introduction: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity.
Mafalda Rebelo, Telma Francisco, Rosário Perry da Câmara, Andreia Pereira, Amets Iraneta, Marta Amorim, Maria João Paiva Lopes, Rita Lopes da Silva, Ana Isabel Cordeiro   +8 more
doaj   +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

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. [PDF]

, 2021
PURPOSE: By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). METHODS: We used

core   +2 more sources

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

Ewing sarcoma in a child with neurofibromatosis type 1. [PDF]

, 2019
We report here on a case of Ewing sarcoma (ES) occurring in a child with neurofibromatosis type 1. The sarcoma had an EWSR1-ERG translocation as well as loss of the remaining wild-type allele of NF1. Loss of the NF1 wild-type allele in the tumor suggests
Bastian, Boris C, Fernandez, Karen S, Hardee, Steven, Horvai, Andrew, Shah, Avanthi Tayi, Sweet-Cordero, E Alejandro, Turski, Michelle L   +6 more
core  

Exploring the interdependencies of research funders in the UK [PDF]

, 2014
Investment in medical research is vital to the continuing improvement of the UK's health and wealth. It is through research that we expand our understanding of disease and develop new treatments for patients.
Crane, P, Farrell, C, Garau, M, Grassano, N, Hernandez-Villafuerte, K, Hopkins, M M, Hutton, J, Lang, F, Mawer, A, Pateman, C, Rotolo, D, Shah, K, Sharp, T, Sussex, J   +13 more
core   +1 more source

Evaluation of QoL in neurofibromatosis patients: a systematic review and meta-analysis study

BMC Neurology, 2019
Background The neurofibromatoses (NF) are a group of genetic disorders that interfere negatively with the quality of life (QoL) and influence physical, emotional and social statuses.
Akram Sanagoo, Leila Jouybari, Fatemeh Koohi, Fatemeh Sayehmiri   +3 more
doaj   +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