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Familial Cancer|January 26, 2019
Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spotsCeline Chiu, Stefanie Loth, Michaela Kuhlen, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|September 30, 2006
Fatal glioblastoma multiforme in a patient with neurofibromatosis type I: the dilemma of systematic medical follow-upFelix Distelmaier, Raimund Fahsold, Guido Reifenberger, et al.
In Vivo (Athens, Greece)|April 29, 2021
Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature SurveyReinhard E Friedrich, Jozef Zustin, Andreas M Luebke, et al.
Neuro-Oncology Practice|September 16, 2024
Consensus recommendations on management of selumetinib-associated adverse events in pediatric patients with neurofibromatosis type 1 and plexiform neurofibromasAmedeo A Azizi, Darren Hargrave, João Passos, et al.
Epilepsia|January 19, 2006
Beta-ureidopropionase deficiency presenting with febrile status epilepticusBirgit E Assmann, Andre B P Van Kuilenburg, Felix Distelmaier, et al.
European Journal of Human Genetics : EJHG|April 28, 2005
Childhood overgrowth in patients with common NF1 microdeletionsMiriam Spiegel, Konrad Oexle, Denise Horn, et al.
Human Mutation|August 31, 2006
Comprehensive NF1 screening on cultured Schwann cells from neurofibromasOphélia Maertens, Hilde Brems, Jo Vandesompele, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|December 15, 2010
Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1Anja Harder, Sabrina Titze, Lena Herbst, et al.
Neuropediatrics|December 24, 2025
Association Between Rapid Progression, Early Mortality, and Imaging in Neonatal-Onset Alexander DiseaseSimone Schwarz, Sylke J Steggerda, Linda S de Vries, et al.
Brain Pathology (Zurich, Switzerland)|September 28, 2004
Subclassification of nerve sheath tumors by gene expression profilingNikola Holtkamp, David E Reuss, Isis Atallah, et al.
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