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279 results

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Page 1
ReNeu: A Pivotal, Phase IIb Trial of Mirdametinib in Adults and Children With Symptomatic Neurofibromatosis Type 1-Associated Plexiform Neurofibroma.
Moertel CL, Hirbe AC, Shuhaiber HH, Bielamowicz K, Sidhu A, Viskochil D, Weber MD, Lokku A, Smith LM, Foreman NK, Hajjar FM, McNall-Knapp RY, Weintraub L, Antony R, Franson AT, Meade J, Schiff D, Walbert T, Ambady P, Bota DA, Campen CJ, Kaur G, Klesse LJ, Maraka S, Moots PL, Nevel K, Bornhorst M, Aguilar-Bonilla A, Chagnon S, Dalvi N, Gupta P, Khatib Z, Metrock LK, Nghiemphu PL, Roberts RD, Robison NJ, Sadighi Z, Stapleton S, Babovic-Vuksanovic D, Gershon TR; ReNeu Trial Investigators; ReNeu Study Investigators. Moertel CL, et al. Among authors: viskochil d. J Clin Oncol. 2024 Nov 8:JCO2401034. doi: 10.1200/JCO.24.01034. Online ahead of print. J Clin Oncol. 2024. PMID: 39514826
Consensus recommendations for an integrated diagnostic approach to peripheral nerve sheath tumors arising in the setting of Neurofibromatosis type 1 (NF1).
Lucas CG, Gross AM, Romo CG, Dehner CA, Lazar AJ, Miettinen M, Pekmezci M, Quezado M, Rodriguez FJ, Stemmer-Rachamimov A, Viskochil D, Perry A; Symposium on Atypical Neurofibroma: State of the Science Members. Lucas CG, et al. Among authors: viskochil d. Neuro Oncol. 2024 Nov 6:noae235. doi: 10.1093/neuonc/noae235. Online ahead of print. Neuro Oncol. 2024. PMID: 39500722
A core outcome domain set to assess cutaneous neurofibromas related to neurofibromatosis type 1 in clinical trials.
Fertitta L, Bergqvist C, Sarin KY, Plotkin SR, Moertel C, Petersen AK, Cannon A, Berman Y, Pichard DC, Röhl C, Lessing A, Brizion B, Peiffer B, Ravaud P, Tran VT, Armand ML, Moryousef S, Ferkal S, Jannic A, Ezzedine K, Wolkenstein P; Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) international collaboration. Fertitta L, et al. Br J Dermatol. 2024 Jan 23;190(2):216-225. doi: 10.1093/bjd/ljad397. Br J Dermatol. 2024. PMID: 37877514
Current status and recommendations for biomarkers and biobanking in neurofibromatosis.
Hanemann CO, Blakeley JO, Nunes FP, Robertson K, Stemmer-Rachamimov A, Mautner V, Kurtz A, Ferguson M, Widemann BC, Evans DG, Ferner R, Carroll SL, Korf B, Wolkenstein P, Knight P, Plotkin SR; REiNS International Collaboration. Hanemann CO, et al. Neurology. 2016 Aug 16;87(7 Suppl 1):S40-8. doi: 10.1212/WNL.0000000000002932. Neurology. 2016. PMID: 27527649 Free PMC article.
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.
Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH; Undiagnosed Diseases Network; Bademci G, Tekin M; Undiagnosed Diseases Network NIH. Borja NA, et al. J Med Genet. 2024 Dec 11:jmg-2024-109908. doi: 10.1136/jmg-2024-109908. Online ahead of print. J Med Genet. 2024. PMID: 39643435
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Peron A, D'Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, Accogli A, Andersen EF, Au PYB, Battini R, Beleford D, Bird LM, Bouman A, Bruel AL, Busk ØL, Campeau PM, Capra V, Carlston C, Carmichael J, Chassevent A, Clayton-Smith J, Bamshad MJ, Earl DL, Faivre L, Philippe C, Ferreira P, Graul-Neumann L, Green MJ, Haffner D, Haldipur P, Hanna S, Houge G, Jones WD, Kraus C, Kristiansen BE, Lespinasse J, Low KJ, Lynch SA, Maia S, Mao R, Kalinauskiene R, Melver C, McDonald K, Montgomery T, Morleo M, Motter C, Openshaw AS, Palumbos JC, Parikh AS, Perilla-Young Y, Powell CM, Person R, Desai M, Piard J, Pfundt R, Scala M, Serey-Gaut M, Shears D, Slavotinek A, Suri M, Turner C, Tvrdik T, Weiss K, Wentzensen IM, Zollino M, Hsieh TC; C4RCD Research Group; Telethon Undiagnosed Disease Program (TUDP); University of Washington Center for Mendelian Genomics (UW-CMG); de Vries BBA, Guillemot F, Dobyns WB, Viskochil D, Dias C. Peron A, et al. Among authors: viskochil d. Eur J Hum Genet. 2024 Oct 24. doi: 10.1038/s41431-024-01701-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39448799
279 results