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Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.
Cybulski C, Krzystolik K, Murgia A, Górski B, Debniak T, Jakubowska A, Martella M, Kurzawski G, Prost M, Kojder I, Limon J, Nowacki P, Sagan L, Białas B, Kałuza J, Zdunek M, Omulecka A, Jaskólski D, Kostyk E, Koraszewska-Matuszewska B, Haus O, Janiszewska H, Pecold K, Starzycka M, Słomski R, Cwirko M, Sikorski A, Gliniewicz B, Cyryłowski L, Fiszer-Maliszewska Ł, Gronwald J, Tołoczko-Grabarek A, Zajaczek S, Lubiński J. Cybulski C, et al. Among authors: murgia a. J Med Genet. 2002 Jul;39(7):E38. doi: 10.1136/jmg.39.7.e38. J Med Genet. 2002. PMID: 12114495 Free PMC article. No abstract available.
Molecular diagnosis of von Hippel-Lindau disease.
Murgia A, Martella M, Polli R, Piermarocchi S, Lo Giudice G, Opocher G. Murgia A, et al. Contrib Nephrol. 2001;(136):263-70. doi: 10.1159/000060193. Contrib Nephrol. 2001. PMID: 11688392 No abstract available.
Somatic mosaicism in von Hippel-Lindau Disease.
Murgia A, Martella M, Vinanzi C, Polli R, Perilongo G, Opocher G. Murgia A, et al. Hum Mutat. 2000 Jan;15(1):114. doi: 10.1002/(SICI)1098-1004(200001)15:1<114::AID-HUMU20>3.0.CO;2-7. Hum Mutat. 2000. PMID: 10612832
Molecular diagnosis of inherited diseases.
Murgia A, Polli R, Martella M, Vinanzi C, Opocher G. Murgia A, et al. Clin Chim Acta. 1999 Feb;280(1-2):73-80. doi: 10.1016/s0009-8981(98)00199-5. Clin Chim Acta. 1999. PMID: 10090525 Review.
242 results