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2011 1
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Page 1
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Evans DG, Plotkin SR. Legius E, et al. Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5. Epub 2021 May 19. Genet Med. 2021. PMID: 34012067 Free PMC article.
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, Babovic-Vuksanovic D, Ferner R, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Hanemann CO, Kalamarides M, Kehrer-Sawatzki H, Korf BR, Mautner VF, MacCollin M, Papi L, Rauen KA, Riccardi V, Schorry E, Smith MJ, Stemmer-Rachamimov A, Stevenson DA, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Wolkenstein P, Evans DG. Plotkin SR, et al. Genet Med. 2022 Sep;24(9):1967-1977. doi: 10.1016/j.gim.2022.05.007. Epub 2022 Jun 9. Genet Med. 2022. PMID: 35674741 Free article.
Brigatinib in NF2-Related Schwannomatosis with Progressive Tumors.
Plotkin SR, Yohay KH, Nghiemphu PL, Dinh CT, Babovic-Vuksanovic D, Merker VL, Bakker A, Fell G, Trippa L, Blakeley JO; INTUITT-NF2 Consortium. Plotkin SR, et al. Among authors: merker vl. N Engl J Med. 2024 Jun 27;390(24):2284-2294. doi: 10.1056/NEJMoa2400985. Epub 2024 Jun 21. N Engl J Med. 2024. PMID: 38904277 Clinical Trial.
Patient-reported outcomes of pain and physical functioning in neurofibromatosis clinical trials.
Wolters PL, Martin S, Merker VL, Tonsgard JH, Solomon SE, Baldwin A, Bergner AL, Walsh K, Thompson HL, Gardner KL, Hingtgen CM, Schorry E, Dudley WN, Franklin B; REiNS International Collaboration. Wolters PL, et al. Among authors: merker vl. Neurology. 2016 Aug 16;87(7 Suppl 1):S4-S12. doi: 10.1212/WNL.0000000000002927. Neurology. 2016. PMID: 27527648 Free PMC article.
Views on the impact of the COVID-19 pandemic on health in people with Down syndrome from diverse backgrounds.
Santoro SL, Baker S, Blake JM, Cabrera MJ, Caughman K, Chung J, Cullen S, Gallagher M, Haugen K, Hoke-Chandler R, Krell K, Maina J, McLuckie D, Merker VL, Michael C, O'Neill K, Peña A, Pless A Jr, Royal D, Slape M, Spinazzi NA, Torres A, Torres CG, Skotko BG. Santoro SL, et al. Among authors: merker vl. Am J Med Genet A. 2023 Aug;191(8):2045-2056. doi: 10.1002/ajmg.a.63233. Epub 2023 Jun 2. Am J Med Genet A. 2023. PMID: 37264986 Free PMC article.
Patient-reported outcomes in neurofibromatosis and schwannomatosis clinical trials.
Wolters PL, Martin S, Merker VL, Gardner KL, Hingtgen CM, Tonsgard JH, Schorry EK, Baldwin A; REiNS International Collaboration. Wolters PL, et al. Among authors: merker vl. Neurology. 2013 Nov 19;81(21 Suppl 1):S6-14. doi: 10.1212/01.wnl.0000435747.02780.bf. Neurology. 2013. PMID: 24249806 Free PMC article.
56 results