Results 51 to 60 of about 1,245 (197)

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  

Neurofibromatosis 2011: a report of the Children’s Tumor Foundation Annual Meeting [PDF]

, 2011
The 2011 annual meeting of the Children\u27s Tumor Foundation, the annual gathering of the neurofibromatosis (NF) research and clinical communities, was attended by 330 participants who discussed integration of new signaling pathways into NF research ...
Alison C. Lloyd, Anat Stemmer-Rachamimov, C. Oliver Hanemann, D. Gareth Evans, David Ingram, David Viskochil, Debra A. Mayes, Duojia Pan, Dusica Babovic-Vuksanovic, Filippo Giancotti, Helen Morrison, Karen Cichowski, Kathryn North, Kim Hunter-Schaedle, Ludwine Messiaen, Margret R. Wallace, Maria T. Acosta, Meena Upadhyaya, Michel Kalamarides, Nancy Ratner, Olli Carpen, Roger Packer   +21 more
core   +3 more sources

Prevalence of Oral Alterations and Correlation Between Oral and Cutaneous Neurofibromas in Neurofibromatosis Type 1: A Retrospective Case–Control Study

Journal of Oral Pathology &Medicine, Volume 55, Issue 1, Page 155-160, January 2026.
ABSTRACT Objective The aim of this study was to determine the prevalence of oral alterations detectable through physical examination in NF1 individuals. Additionally, we assessed the correlation between the number of oral and cutaneous neurofibromas. Design This retrospective study evaluated oral alterations in individuals with and without NF1.
Pâmella de Pinho Montovani, Gabriela Pizão Werneck Moreira da Costa, Rafaela Elvira Rozza‐de‐Menezes, Karin Soares Cunha   +3 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  

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

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

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

Challenges in staging and surveillance of patients with neurofibromatosis and cutaneous malignant melanoma

JPRAS Open, 2019
Summary: Malignant melanoma is a skin neoplasm with a rising trend of incidence. Positron Emission Tomography in combination with Computed Tomography (PET-CT) imaging is an essential diagnostic tool for both staging and surveillance of melanoma patients;
P.R. Chew, V.V. Toh, A. Kotwal
doaj   +1 more source

Awareness and agreement with neurofibromatosis care guidelines among U.S. neurofibromatosis specialists

Orphanet Journal of Rare Diseases, 2022
Introduction The neurofibromatoses (NF) are a group of rare, genetic diseases sharing a predisposition to develop multiple benign nervous system tumors.
Vanessa L. Merker, Pamela Knight, Heather B. Radtke, Kaleb Yohay, Nicole J. Ullrich, Scott R. Plotkin, Justin T. Jordan   +6 more
doaj   +1 more source

Risk factors in pediatric Malignant Peripheral Nerve Sheath Tumors (MPNST): Results from the French Pediatric Oncology Society (SFCE) cohort

EJC Paediatric Oncology, 2023
Introduction: Malignant Peripheral Nerve Sheath Tumors (MPNST) are very rare and aggressive tumors, which can affect children, adolescents, and young adults. These tumors are frequently associated with type 1 neurofibromatosis (NF1).
Jordane Chaix, Marie Karanian, Nadège Corradini, Maria Merched, Frédérique Larousserie, Louise Galmiche, Brigitte Lacour, Aude Marie-Cardine, Anne-Sophie Defachelles, Pablo Berlanga, Angélique Rome, Estelle Thébaud, Valérie Bernier-Chastagner, Hervé J. Brisse, Frédéric Hameury, Pierre Wolkenstein, Stéphane Ducassou, Daniel Orbach, Cécile Vérité   +18 more
doaj   +1 more source