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Clinical Trials (London, England)|October 31, 2023
Recommendations for the collection and annotation of biosamples for analysis of biomarkers in neurofibromatosis and schwannomatosis clinical trialsR Taylor Sundby, Steven D Rhodes, Edina Komlodi-Pasztor, et al.
Journal of Neuro-Oncology|April 10, 2012
Overactivation of Ras signaling pathway in CD133+ MPNST cellsEmma Borrego-Diaz, Kaoru Terai, Kristina Lialyte, et al.
Clinical Dysmorphology|October 18, 2003
A large deletion (1.5 Mb) encompassing the neurofibromatosis type 1 (NF1) gene in a patient with sporadic NF1 associated with dysmorphism, mental retardation, and unusual ocular and skeletal featuresCagatay Oktenli, Mutlu Saglam, Seref Demirbas, et al.
Genes, Chromosomes & Cancer|July 11, 2006
Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patientsThomas De Raedt, Ophélia Maertens, Magdalena Chmara, et al.
Human Genomics|October 9, 2015
Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHDMary B Mayes, Taniesha Morgan, Jincy Winston, et al.
Plos One|April 29, 2025
'I cannot be what I don't see': an evaluation of Academic Intersectionality Mentoring in medical schools (AIMMS Mentoring)Mirembe Woodrow, Elizabeth Benedikz, Louise D Bryant, et al.
Nature|August 15, 2014
PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapiesThomas De Raedt, Eline Beert, Eric Pasmant, et al.
Neurology|July 11, 2018
Cutaneous neurofibromas: Current clinical and pathologic issuesNicolas Ortonne, Pierre Wolkenstein, Jaishri O Blakeley, et al.
Genome Biology|June 25, 2014
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpointsJulia Vogt, Kathrin Bengesser, Kathleen B M Claes, et al.
Skin Health and Disease|October 2, 2024
Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait maculesCharlotte Lovatt, Megan Williams, Alex Gibbs, et al.
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