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Page 1
Detection of C282Y and H63D in the HFE gene.
Pointon JJ, Merryweather-Clarke AT, Carella M, Robson KJ. Pointon JJ, et al. Among authors: carella m. Genet Test. 2000;4(2):115-20. doi: 10.1089/10906570050114803. Genet Test. 2000. PMID: 10953949 Review.
Hereditary hemochromatosis: a HpaI polymorphism within the HLA-H gene.
Totaro A, Grifa A, Carella M, D'Ambrosio L, Valentino M, Roth MP, Borot N, Coppin H, Roetto A, Camaschella C, Gasparini P. Totaro A, et al. Among authors: carella m. Mol Cell Probes. 1997 Jun;11(3):229-30. doi: 10.1006/mcpr.1997.0102. Mol Cell Probes. 1997. PMID: 9232622 No abstract available.
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
Arking DE, Pulit SL, Crotti L, van der Harst P, Munroe PB, Koopmann TT, Sotoodehnia N, Rossin EJ, Morley M, Wang X, Johnson AD, Lundby A, Gudbjartsson DF, Noseworthy PA, Eijgelsheim M, Bradford Y, Tarasov KV, Dörr M, Müller-Nurasyid M, Lahtinen AM, Nolte IM, Smith AV, Bis JC, Isaacs A, Newhouse SJ, Evans DS, Post WS, Waggott D, Lyytikäinen LP, Hicks AA, Eisele L, Ellinghaus D, Hayward C, Navarro P, Ulivi S, Tanaka T, Tester DJ, Chatel S, Gustafsson S, Kumari M, Morris RW, Naluai ÅT, Padmanabhan S, Kluttig A, Strohmer B, Panayiotou AG, Torres M, Knoflach M, Hubacek JA, Slowikowski K, Raychaudhuri S, Kumar RD, Harris TB, Launer LJ, Shuldiner AR, Alonso A, Bader JS, Ehret G, Huang H, Kao WH, Strait JB, Macfarlane PW, Brown M, Caulfield MJ, Samani NJ, Kronenberg F, Willeit J; CARe Consortium; COGENT Consortium; Smith JG, Greiser KH, Meyer Zu Schwabedissen H, Werdan K, Carella M, Zelante L, Heckbert SR, Psaty BM, Rotter JI, Kolcic I, Polašek O, Wright AF, Griffin M, Daly MJ; DCCT/EDIC; Arnar DO, Hólm H, Thorsteinsdottir U; eMERGE Consortium; Denny JC, Roden DM, Zuvich RL, Emilsson V, Plump AS, Larson MG, O'Donnell CJ, Yin X, Bobbo M, D'Adamo AP, Iorio A, Sinagra G, Carracedo A, … See abstract for full author list ➔ Arking DE, et al. Among authors: carella m. Nat Genet. 2014 Aug;46(8):826-36. doi: 10.1038/ng.3014. Epub 2014 Jun 22. Nat Genet. 2014. PMID: 24952745 Free PMC article.
Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene.
Pazienza V, la Torre A, Baorda F, Alfarano M, Chetta M, Muscarella LA, Battista C, Copetti M, Kotzot D, Kapelari K, Al-Abdulrazzaq D, Perlman K, Sochett E, Cole DE, Pellegrini F, Canaff L, Hendy GN, D'Agruma L, Zelante L, Carella M, Scillitani A, Guarnieri V. Pazienza V, et al. Among authors: carella m. PLoS One. 2013 Dec 5;8(12):e82292. doi: 10.1371/journal.pone.0082292. eCollection 2013. PLoS One. 2013. PMID: 24340015 Free PMC article.
Juvenile and adult hemochromatosis are distinct genetic disorders.
Camaschella C, Roetto A, Cicilano M, Pasquero P, Bosio S, Gubetta L, Di Vito F, Girelli D, Totaro A, Carella M, Grifa A, Gasparini P. Camaschella C, et al. Among authors: carella m. Eur J Hum Genet. 1997 Nov-Dec;5(6):371-5. Eur J Hum Genet. 1997. PMID: 9450181
412 results