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201 results

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Page 1
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: plotkin sr. 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.
Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2.
Blakeley JO, Evans DG, Adler J, Brackmann D, Chen R, Ferner RE, Hanemann CO, Harris G, Huson SM, Jacob A, Kalamarides M, Karajannis MA, Korf BR, Mautner VF, McClatchey AI, Miao H, Plotkin SR, Slattery W 3rd, Stemmer-Rachamimov AO, Welling DB, Wen PY, Widemann B, Hunter-Schaedle K, Giovannini M. Blakeley JO, et al. Among authors: plotkin sr. Am J Med Genet A. 2012 Jan;158A(1):24-41. doi: 10.1002/ajmg.a.34359. Epub 2011 Dec 2. Am J Med Genet A. 2012. PMID: 22140088 Free PMC article.
Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.
Smith MJ, Walker JA, Shen Y, Stemmer-Rachamimov A, Gusella JF, Plotkin SR. Smith MJ, et al. Among authors: plotkin sr. Hum Mol Genet. 2012 Dec 15;21(24):5239-45. doi: 10.1093/hmg/dds370. Epub 2012 Sep 4. Hum Mol Genet. 2012. PMID: 22949514 Free PMC article.
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.
Plotkin SR, Blakeley JO, Evans DG, Hanemann CO, Hulsebos TJ, Hunter-Schaedle K, Kalpana GV, Korf B, Messiaen L, Papi L, Ratner N, Sherman LS, Smith MJ, Stemmer-Rachamimov AO, Vitte J, Giovannini M. Plotkin SR, et al. Am J Med Genet A. 2013 Mar;161A(3):405-16. doi: 10.1002/ajmg.a.35760. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401320 Free PMC article.
Hearing and facial function outcomes for neurofibromatosis 2 clinical trials.
Plotkin SR, Ardern-Holmes SL, Barker FG 2nd, Blakeley JO, Evans DG, Ferner RE, Hadlock TA, Halpin C; REiNS International Collaboration. Plotkin SR, et al. Neurology. 2013 Nov 19;81(21 Suppl 1):S25-32. doi: 10.1212/01.wnl.0000435746.02780.f6. Neurology. 2013. PMID: 24249803 Free PMC article.
Conclusions and future directions for the REiNS International Collaboration.
Widemann BC, Blakeley JO, Dombi E, Fisher MJ, Hanemann CO, Walsh KS, Wolters PL, Plotkin SR. Widemann BC, et al. Among authors: plotkin sr. Neurology. 2013 Nov 19;81(21 Suppl 1):S41-4. doi: 10.1212/01.wnl.0000435748.79908.c5. Neurology. 2013. PMID: 24249805 Free PMC article.
CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.
Widemann BC, Acosta MT, Ammoun S, Belzberg AJ, Bernards A, Blakeley J, Bretscher A, Cichowski K, Clapp DW, Dombi E, Evans GD, Ferner R, Fernandez-Valle C, Fisher MJ, Giovannini M, Gutmann DH, Hanemann CO, Hennigan R, Huson S, Ingram D, Kissil J, Korf BR, Legius E, Packer RJ, McClatchey AI, McCormick F, North K, Pehrsson M, Plotkin SR, Ramesh V, Ratner N, Schirmer S, Sherman L, Schorry E, Stevenson D, Stewart DR, Ullrich N, Bakker AC, Morrison H. Widemann BC, et al. Among authors: plotkin sr. Am J Med Genet A. 2014 Mar;164A(3):563-78. doi: 10.1002/ajmg.a.36312. Epub 2014 Jan 17. Am J Med Genet A. 2014. PMID: 24443315 Free PMC article.
201 results