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Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.
Stewart DR, Brems H, Gomes AG, Ruppert SL, Callens T, Williams J, Claes K, Bober MB, Hachen R, Kaban LB, Li H, Lin A, McDonald M, Melancon S, Ortenberg J, Radtke HB, Samson I, Saul RA, Shen J, Siqveland E, Toler TL, van Maarle M, Wallace M, Williams M, Legius E, Messiaen L. Stewart DR, et al. Among authors: wallace m. Genet Med. 2014 Jun;16(6):448-59. doi: 10.1038/gim.2013.163. Epub 2013 Nov 14. Genet Med. 2014. PMID: 24232412 Free article.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destrée A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernández-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM. Koczkowska M, et al. Among authors: wallace mr. Am J Hum Genet. 2018 Jan 4;102(1):69-87. doi: 10.1016/j.ajhg.2017.12.001. Epub 2017 Dec 28. Am J Hum Genet. 2018. PMID: 29290338 Free PMC article.
Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1-associated atypical neurofibromas.
Pemov A, Hansen NF, Sindiri S, Patidar R, Higham CS, Dombi E, Miettinen MM, Fetsch P, Brems H, Chandrasekharappa SC, Jones K, Zhu B, Wei JS; National Intramural Sequencing Center (NISC) Comparative Sequencing Program; National Cancer Institute (NCI) Division of Cancer Epidemiology and Genetics (DCEG) Cancer Genomics Research Laboratory; Mullikin JC, Wallace MR, Khan J, Legius E, Widemann BC, Stewart DR. Pemov A, et al. Among authors: wallace mr. Neuro Oncol. 2019 Aug 5;21(8):981-992. doi: 10.1093/neuonc/noz028. Neuro Oncol. 2019. PMID: 30722027 Free PMC article.
The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas.
Pemov A, Li H, Patidar R, Hansen NF, Sindiri S, Hartley SW, Wei JS, Elkahloun A, Chandrasekharappa SC; NISC Comparative Sequencing Program; Boland JF, Bass S; NCI DCEG Cancer Genomics Research Laboratory; Mullikin JC, Khan J, Widemann BC, Wallace MR, Stewart DR. Pemov A, et al. Among authors: wallace mr. Oncogene. 2017 Jun 1;36(22):3168-3177. doi: 10.1038/onc.2016.464. Epub 2017 Jan 9. Oncogene. 2017. PMID: 28068329 Free PMC article.
NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation.
Yu Y, Choi K, Wu J, Andreassen PR, Dexheimer PJ, Keddache M, Brems H, Spinner RJ, Cancelas JA, Martin LJ, Wallace MR, Legius E, Vogel KS, Ratner N. Yu Y, et al. Among authors: wallace mr. Acta Neuropathol. 2020 Jan;139(1):157-174. doi: 10.1007/s00401-019-02086-w. Epub 2019 Oct 29. Acta Neuropathol. 2020. PMID: 31664505 Free PMC article.
Genetics of human malignant peripheral nerve sheath tumors.
Pemov A, Li H, Presley W, Wallace MR, Miller DT. Pemov A, et al. Neurooncol Adv. 2019 Nov 28;2(Suppl 1):i50-i61. doi: 10.1093/noajnl/vdz049. eCollection 2020 Jul. Neurooncol Adv. 2019. PMID: 32642732 Free PMC article. Review.
3,661 results