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Page 1
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.
Magri F, Govoni A, D'Angelo MG, Del Bo R, Ghezzi S, Sandra G, Turconi AC, Sciacco M, Ciscato P, Bordoni A, Tedeschi S, Fortunato F, Lucchini V, Bonato S, Lamperti C, Coviello D, Torrente Y, Corti S, Moggio M, Bresolin N, Comi GP. Magri F, et al. Among authors: d angelo mg, coviello d. J Neurol. 2011 Sep;258(9):1610-23. doi: 10.1007/s00415-011-5979-z. Epub 2011 Mar 12. J Neurol. 2011. PMID: 21399986
The mutation c.1196_1202dup7bp (p.Ser402X) in the SLC12A3 gene clusters in Italian Gitelman syndrome patients and reflects the presence of a common ancestor.
Syrén ML, Borsa Ghiringhelli N, Bettinelli A, Colussi G, Vargas-Poussou R, Tammaro F, Coviello DA, Tedeschi S; Italian Collaborative Group for Gitelman Syndrome. Syrén ML, et al. Nephrol Dial Transplant. 2011 Feb;26(2):557-61. doi: 10.1093/ndt/gfq458. Epub 2010 Jul 30. Nephrol Dial Transplant. 2011. PMID: 20675610
Banking together. A unified model of informed consent for biobanking.
Salvaterra E, Lecchi L, Giovanelli S, Butti B, Bardella MT, Bertazzi PA, Bosari S, Coggi G, Coviello DA, Lalatta F, Moggio M, Nosotti M, Zanella A, Rebulla P. Salvaterra E, et al. EMBO Rep. 2008 Apr;9(4):307-13. doi: 10.1038/embor.2008.41. EMBO Rep. 2008. PMID: 18379580 Free PMC article. No abstract available.
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.
Colombo C, Vajro P, Degiorgio D, Coviello DA, Costantino L, Tornillo L, Motta V, Consonni D, Maggiore G; SIGENP Study Group for Genetic Cholestasis. Colombo C, et al. Among authors: coviello da. J Pediatr Gastroenterol Nutr. 2011 Jan;52(1):73-83. doi: 10.1097/MPG.0b013e3181f50363. J Pediatr Gastroenterol Nutr. 2011. PMID: 21119540
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
Striano P, Coppola A, Paravidino R, Malacarne M, Gimelli S, Robbiano A, Traverso M, Pezzella M, Belcastro V, Bianchi A, Elia M, Falace A, Gazzerro E, Ferlazzo E, Freri E, Galasso R, Gobbi G, Molinatto C, Cavani S, Zuffardi O, Striano S, Ferrero GB, Silengo M, Cavaliere ML, Benelli M, Magi A, Piccione M, Dagna Bricarelli F, Coviello DA, Fichera M, Minetti C, Zara F. Striano P, et al. Arch Neurol. 2012 Mar;69(3):322-30. doi: 10.1001/archneurol.2011.1999. Epub 2011 Nov 14. Arch Neurol. 2012. PMID: 22083797 Free article. Review.
Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.
Canafoglia L, Gennaro E, Capovilla G, Gobbi G, Boni A, Beccaria F, Viri M, Michelucci R, Agazzi P, Assereto S, Coviello DA, Di Stefano M, Rossi Sebastiano D, Franceschetti S, Zara F. Canafoglia L, et al. Among authors: coviello da. Epilepsia. 2012 Dec;53(12):2120-7. doi: 10.1111/j.1528-1167.2012.03718.x. Epilepsia. 2012. PMID: 23205931 Free article.
Hypokalaemia and failure to thrive: report of a misleading onset.
Conti G, Vitale A, Tedeschi S, Syrén ML, Pantano R, Chimenz R, Fede S, La Torre F, Coviello D, Fede C. Conti G, et al. Among authors: coviello d. J Paediatr Child Health. 2010 May;46(5):276-7. doi: 10.1111/j.1440-1754.2009.01684.x. Epub 2010 Apr 16. J Paediatr Child Health. 2010. PMID: 20412406
240 results