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Twenty-five novel mutations including duplications in the ATP7A gene.
Moizard MP, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M. Moizard MP, et al. Among authors: danesino c. Clin Genet. 2011 Mar;79(3):243-53. doi: 10.1111/j.1399-0004.2010.01461.x. Clin Genet. 2011. PMID: 21208200
Asymmetric Marfan syndrome.
Burgio RG, Martini A, Cetta G, Zanaboni G, Vitellaro L, Danesino C. Burgio RG, et al. Among authors: danesino c. Am J Med Genet. 1988 Aug;30(4):905-9. doi: 10.1002/ajmg.1320300405. Am J Med Genet. 1988. PMID: 3189412
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.
Miano MG, Testa F, Strazzullo M, Trujillo M, De Bernardo C, Grammatico B, Simonelli F, Mangino M, Torrente I, Ruberto G, Beneyto M, Antinolo G, Rinaldi E, Danesino C, Ventruto V, D'Urso M, Ayuso C, Baiget M, Ciccodicola A. Miano MG, et al. Among authors: danesino c. Eur J Hum Genet. 1999 Sep;7(6):687-94. doi: 10.1038/sj.ejhg.5200352. Eur J Hum Genet. 1999. PMID: 10482958
Blood cell mitochondrial DNA content and premature ovarian aging.
Bonomi M, Somigliana E, Cacciatore C, Busnelli M, Rossetti R, Bonetti S, Paffoni A, Mari D, Ragni G, Persani L; Italian Network for the study of Ovarian Dysfunctions. Bonomi M, et al. PLoS One. 2012;7(8):e42423. doi: 10.1371/journal.pone.0042423. Epub 2012 Aug 3. PLoS One. 2012. PMID: 22879975 Free PMC article.
Breast cancer and genetics.
Boeri L, Canzonieri C, Cagioni C, Ornati F, Danesino C. Boeri L, et al. Among authors: danesino c. J Ultrasound. 2011 Dec;14(4):171-6. doi: 10.1016/j.jus.2011.10.002. Epub 2011 Oct 20. J Ultrasound. 2011. PMID: 23397024 Free PMC article.
Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.
Arbustini E, Fasani R, Morbini P, Diegoli M, Grasso M, Dal Bello B, Marangoni E, Banfi P, Banchieri N, Bellini O, Comi G, Narula J, Campana C, Gavazzi A, Danesino C, Viganò M. Arbustini E, et al. Among authors: danesino c. Heart. 1998 Dec;80(6):548-58. doi: 10.1136/hrt.80.6.548. Heart. 1998. PMID: 10065021 Free PMC article.
Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus.
Grandis M, Obici L, Luigetti M, Briani C, Benedicenti F, Bisogni G, Canepa M, Cappelli F, Danesino C, Fabrizi GM, Fenu S, Ferrandes G, Gemelli C, Manganelli F, Mazzeo A, Melchiorri L, Perfetto F, Pradotto LG, Rimessi P, Tini G, Tozza S, Trevisan L, Pareyson D, Mandich P. Grandis M, et al. Among authors: danesino c. Orphanet J Rare Dis. 2020 Dec 14;15(1):348. doi: 10.1186/s13023-020-01633-z. Orphanet J Rare Dis. 2020. PMID: 33317601 Free PMC article.
220 results