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224 results

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Page 1
Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies.
Rauen KA, Banerjee A, Bishop WR, Lauchle JO, McCormick F, McMahon M, Melese T, Munster PN, Nadaf S, Packer RJ, Sebolt-Leopold J, Viskochil DH. Rauen KA, et al. Among authors: viskochil dh. Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):136-46. doi: 10.1002/ajmg.c.30294. Epub 2011 Apr 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 21495172 Free PMC article.
Plexiform neurofibromas in NF1: toward biologic-based therapy.
Packer RJ, Gutmann DH, Rubenstein A, Viskochil D, Zimmerman RA, Vezina G, Small J, Korf B. Packer RJ, et al. Among authors: viskochil d. Neurology. 2002 May 28;58(10):1461-70. doi: 10.1212/wnl.58.10.1461. Neurology. 2002. PMID: 12041525 Review.
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.
Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, Gripp KW, Neri G, Carey JC, Legius E, Tartaglia M, Schubbert S, Roberts AE, Gelb BD, Shannon K, Gutmann DH, McMahon M, Guerra C, Fagin JA, Yu B, Aoki Y, Neel BG, Balmain A, Drake RR, Nolan GP, Zenker M, Bollag G, Sebolt-Leopold J, Gibbs JB, Silva AJ, Patton EE, Viskochil DH, Kieran MW, Korf BR, Hagerman RJ, Packer RJ, Melese T. Rauen KA, et al. Among authors: viskochil dh. Am J Med Genet A. 2010 Jan;152A(1):4-24. doi: 10.1002/ajmg.a.33183. Am J Med Genet A. 2010. PMID: 20014119 Free PMC article.
Back to the future: proceedings from the 2010 NF Conference.
Huson SM, Acosta MT, Belzberg AJ, Bernards A, Chernoff J, Cichowski K, Gareth Evans D, Ferner RE, Giovannini M, Korf BR, Listernick R, North KN, Packer RJ, Parada LF, Peltonen J, Ramesh V, Reilly KM, Risner JW, Schorry EK, Upadhyaya M, Viskochil DH, Zhu Y, Hunter-Schaedle K, Giancotti FG. Huson SM, et al. Among authors: viskochil dh. Am J Med Genet A. 2011 Feb;155A(2):307-21. doi: 10.1002/ajmg.a.33804. Epub 2010 Dec 22. Am J Med Genet A. 2011. PMID: 21271647 Free PMC article.
Disorders of the ras pathway: an introduction.
Viskochil DH. Viskochil DH. Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):79-82. doi: 10.1002/ajmg.c.30301. Epub 2011 Apr 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 21495180 No abstract available.
Peripheral muscle weakness in RASopathies.
Stevenson DA, Allen S, Tidyman WE, Carey JC, Viskochil DH, Stevens A, Hanson H, Sheng X, Thompson BA, Okumura MJ, Reinker K, Johnson B, Rauen KA. Stevenson DA, et al. Among authors: viskochil dh. Muscle Nerve. 2012 Sep;46(3):394-9. doi: 10.1002/mus.23324. Muscle Nerve. 2012. PMID: 22907230
Sirolimus for progressive neurofibromatosis type 1-associated plexiform neurofibromas: a neurofibromatosis Clinical Trials Consortium phase II study.
Weiss B, Widemann BC, Wolters P, Dombi E, Vinks A, Cantor A, Perentesis J, Schorry E, Ullrich N, Gutmann DH, Tonsgard J, Viskochil D, Korf B, Packer RJ, Fisher MJ. Weiss B, et al. Among authors: viskochil d. Neuro Oncol. 2015 Apr;17(4):596-603. doi: 10.1093/neuonc/nou235. Epub 2014 Oct 14. Neuro Oncol. 2015. PMID: 25314964 Free PMC article. Clinical Trial.
Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues.
Rauen KA, Huson SM, Burkitt-Wright E, Evans DG, Farschtschi S, Ferner RE, Gutmann DH, Hanemann CO, Kerr B, Legius E, Parada LF, Patton M, Peltonen J, Ratner N, Riccardi VM, van der Vaart T, Vikkula M, Viskochil DH, Zenker M, Upadhyaya M. Rauen KA, et al. Among authors: viskochil dh. Am J Med Genet A. 2015 Jan;167A(1):1-10. doi: 10.1002/ajmg.a.36793. Epub 2014 Nov 12. Am J Med Genet A. 2015. PMID: 25393061 Free PMC article.
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
Gripp KW, Sol-Church K, Smpokou P, Graham GE, Stevenson DA, Hanson H, Viskochil DH, Baker LC, Russo B, Gardner N, Stabley DL, Kolbe V, Rosenberger G. Gripp KW, et al. Among authors: viskochil dh. Am J Med Genet A. 2015 Sep;167A(9):2085-97. doi: 10.1002/ajmg.a.37128. Epub 2015 Apr 25. Am J Med Genet A. 2015. PMID: 25914166 Free PMC article.
Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1.
Payne JM, Hearps SJC, Walsh KS, Paltin I, Barton B, Ullrich NJ, Haebich KM, Coghill D, Gioia GA, Cantor A, Cutter G, Tonsgard JH, Viskochil D, Rey-Casserly C, Schorry EK, Ackerson JD, Klesse L, Fisher MJ, Gutmann DH, Rosser T, Packer RJ, Korf B, Acosta MT, North KN; NF Clinical Trials Consortium. Payne JM, et al. Among authors: viskochil d. Ann Clin Transl Neurol. 2019 Dec;6(12):2555-2565. doi: 10.1002/acn3.50952. Epub 2019 Dec 3. Ann Clin Transl Neurol. 2019. PMID: 31797581 Free PMC article. Clinical Trial.
224 results