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Page 1
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
Tajsharghi H, Hammans S, Lindberg C, Lossos A, Clarke NF, Mazanti I, Waddell LB, Fellig Y, Foulds N, Katifi H, Webster R, Raheem O, Udd B, Argov Z, Oldfors A. Tajsharghi H, et al. Among authors: lossos a. Eur J Hum Genet. 2014 Jun;22(6):801-8. doi: 10.1038/ejhg.2013.250. Epub 2013 Nov 6. Eur J Hum Genet. 2014. PMID: 24193343 Free PMC article.
Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.
Spiegel R, Mandel H, Saada A, Lerer I, Burger A, Shaag A, Shalev SA, Jabaly-Habib H, Goldsher D, Gomori JM, Lossos A, Elpeleg O, Meiner V. Spiegel R, et al. Among authors: lossos a. Eur J Hum Genet. 2014 Aug;22(8):1019-25. doi: 10.1038/ejhg.2013.284. Epub 2014 Jan 15. Eur J Hum Genet. 2014. PMID: 24424123 Free PMC article.
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.
Dobson-Stone C, Danek A, Rampoldi L, Hardie RJ, Chalmers RM, Wood NW, Bohlega S, Dotti MT, Federico A, Shizuka M, Tanaka M, Watanabe M, Ikeda Y, Brin M, Goldfarb LG, Karp BI, Mohiddin S, Fananapazir L, Storch A, Fryer AE, Maddison P, Sibon I, Trevisol-Bittencourt PC, Singer C, Caballero IR, Aasly JO, Schmierer K, Dengler R, Hiersemenzel LP, Zeviani M, Meiner V, Lossos A, Johnson S, Mercado FC, Sorrentino G, Dupré N, Rouleau GA, Volkmann J, Arpa J, Lees A, Geraud G, Chouinard S, Németh A, Monaco AP. Dobson-Stone C, et al. Among authors: lossos a. Eur J Hum Genet. 2002 Nov;10(11):773-81. doi: 10.1038/sj.ejhg.5200866. Eur J Hum Genet. 2002. PMID: 12404112
Aggressive leptomeningeal gliomatosis in neurofibromatosis type 1.
Arkadir D, Fellig Y, Gomori MJ, Linetsky E, Shalom E, Lossos A. Arkadir D, et al. Among authors: lossos a. J Clin Oncol. 2012 Sep 20;30(27):e269-70. doi: 10.1200/JCO.2012.42.1719. Epub 2012 Aug 6. J Clin Oncol. 2012. PMID: 22869891 No abstract available.
132 results