Results 21 to 30 of about 38,036,070 (284)

Long-Term Safety and Efficacy of Selumetinib in Children with Neurofibromatosis Type 1 on a Phase 1/2 Trial for Inoperable Plexiform Neurofibromas.

Neuro-Oncology, 2023
BACKGROUND Selumetinib shrank inoperable symptomatic plexiform neurofibromas (PN) in children with neurofibromatosis type 1 (NF1) and provided clinical benefit for many in our previously published phase 1/2 clinical trials (SPRINT, NCT01362803).
A. Gross, E. Dombi, P. Wolters, A. Baldwin, Anne Dufek, Kailey R Herrera, Staci Martin, J. Derdak, Kara Heisey, Patricia M Whitcomb, S. Steinberg, D. Venzon, Michael Fisher, AeRang Kim, M. Bornhorst, Brian D. Weiss, J. Blakeley, Malcolm A. Smith, B. Widemann   +18 more
semanticscholar   +1 more source

Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations

Cancers, 2023
Simple Summary In the last few years, an increasing number of genotype–phenotype correlations has been described for neurofibromatosis type 1 (NF1), impacting on the clinical follow-up of patients, especially in pediatric age.
Cristina Peduto, Mariateresa Zanobio, V. Nigro, S. Perrotta, G. Piluso, C. Santoro   +5 more
semanticscholar   +1 more source

RAS and beyond: the many faces of the neurofibromatosis type 1 protein

Disease Models & Mechanisms, 2022
Neurofibromatosis type 1 is a rare neurogenetic syndrome, characterized by pigmentary abnormalities, learning and social deficits, and a predisposition for benign and malignant tumor formation caused by germline mutations in the NF1 gene.
C. Anastasaki, P. Orozco, D. Gutmann
semanticscholar   +1 more source

Comparison of Cancer Prevalence in Patients With Neurofibromatosis Type 1 at an Academic Cancer Center vs in the General Population From 1985 to 2020

JAMA Network Open, 2021
This cohort study examines the cancer prevalence and survival outcomes among patients with neurofibromatosis type 1 vs the general population.
J. Landry, Kelsey L Schertz, Y. Chiang, Angela D. Bhalla, M. Yi, Emily Z. Keung, Christopher P. Scally, B. Feig, K. Hunt, C. Roland, A. Guadagnolo, A. Bishop, A. Lazar, J. Slopis, I. McCutcheon, Keila E. Torres   +15 more
semanticscholar   +1 more source

Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis

International Journal of Molecular Sciences, 2021
Neurofibromatosis (NF) is a neurocutaneous syndrome characterized by the development of tumors of the central or peripheral nervous system including the brain, spinal cord, organs, skin, and bones.
R. Tamura
semanticscholar   +1 more source

Cabozantinib for neurofibromatosis type 1-related plexiform neurofibromas: a phase 2 trial

Nature Medicine, 2021
Neurofibromatosis type 1 (NF1) plexiform neurofibromas (PNs) are progressive, multicellular neoplasms that cause morbidity and may transform to sarcoma.
M. Fisher, C-S. Shih, Steven D. Rhodes, Amy E. Armstrong, P. Wolters, E. Dombi, Chi Zhang, Steven P. Angus, G. Johnson, R. Packer, J. Allen, N. Ullrich, S. Goldman, D. Gutmann, S. Plotkin, T. Rosser, Kent A. Robertson, B. Widemann, A. Smith, Waylan K. Bessler, Yongzheng He, Su-Jung Park, Julie A. Mund, Li Jiang, Khadijeh Bijangi-Vishehsaraei, C. Robinson, G. Cutter, B. Korf, J. Blakeley, D. Clapp   +29 more
semanticscholar   +1 more source

Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1

Frontiers in Neurology, 2021
Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disorder that directly affects more than 1 in 3,000 individuals worldwide. It results from mutations of the NF1 gene and shows almost complete penetrance.
W. Wang, Chengjiang Wei, Xi-Wei Cui, Yuehua Li, Yihui Gu, Bin Gu, Qing-Feng Li, Zhichao Wang   +7 more
semanticscholar   +1 more source

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study

Cancers, 2021
Simple Summary Neurofibromatosis type 1 (NF1) is a complex disorder characterized by a multisystem involvement and cancer predisposition. It is caused by genetic variants in NF1, a large tumor suppressor gene encoding a cytoplasmatic protein ...
M. Scala, I. Schiavetti, F. Madia, Cristina Chelleri, G. Piccolo, A. Accogli, A. Riva, V. Salpietro, R. Bocciardi, G. Morcaldi, M. Di Duca, F. Caroli, A. Verrico, C. Milanaccio, G. Viglizzo, M. Traverso, S. Baldassari, P. Scudieri, M. Iacomino, G. Piatelli, C. Minetti, P. Striano, M. Garrè, P. de Marco, M. Diana, V. Capra, M. Pavanello, F. Zara   +27 more
semanticscholar   +1 more source

Delineating the autistic phenotype in children with neurofibromatosis type 1

Molecular Autism, 2022
Background Existing research has demonstrated elevated autistic behaviours in children with neurofibromatosis type 1 (NF1), but the autistic phenotype and its relationship to other neurodevelopmental manifestations of NF1 remains unclear. To address this
Anita K. Chisholm, K. Haebich, Natalie A. Pride, K. Walsh, Francesca Lami, Alexandra Ure, T. Maloof, Amanda Brignell, Melissa Rouel, Y. Granader, Alice Maier, Belinda Barton, Hayley Darke, G. Dabscheck, Vicki A. Anderson, K. Williams, K. North, Jonathan M. Payne   +17 more
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Current concepts of neurofibromatosis type 1: pathophysiology and treatment

Archives of Craniofacial Surgery, 2022
Neurofibromatosis type 1 is the most common tumor predisposition syndrome inherited in an autosomal dominant (100% penetrance) fashion with a wide variety of expressivity.
Jae-Yeong Choi, Sung-Bin An, So-Young Lim   +2 more
semanticscholar   +1 more source