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Exploring the clinical and epidemiological complexity of GJB2-linked deafness.
Gualandi F, Ravani A, Berto A, Sensi A, Trabanelli C, Falciano F, Trevisi P, Mazzoli M, Tibiletti MG, Cristofari E, Burdo S, Ferlini A, Martini A, Calzolari E. Gualandi F, et al. Am J Med Genet. 2002 Sep 15;112(1):38-45. doi: 10.1002/ajmg.10621. Am J Med Genet. 2002. PMID: 12239718
Progress in understanding GJB2-linked deafness.
Gualandi F, Martini A, Calzolari E. Gualandi F, et al. Community Genet. 2003;6(3):125-32. doi: 10.1159/000078156. Community Genet. 2003. PMID: 15237196 Review.
Mole maker phenotype: possible narrowing of the candidate region.
Sensi A, Gualandi F, Pittalis MC, Calabrese O, Falciano F, Maestri I, Bovicelli L, Calzolari E. Sensi A, et al. Among authors: gualandi f. Eur J Hum Genet. 2000 Aug;8(8):641-4. doi: 10.1038/sj.ejhg.5200501. Eur J Hum Genet. 2000. PMID: 10951527
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. Snoeckx RL, et al. Among authors: gualandi f. Am J Hum Genet. 2005 Dec;77(6):945-57. doi: 10.1086/497996. Epub 2005 Oct 19. Am J Hum Genet. 2005. PMID: 16380907 Free PMC article.
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers.
Guglielmi V, Vattemi G, Gualandi F, Voermans NC, Marini M, Scotton C, Pegoraro E, Oosterhof A, Kósa M, Zádor E, Valente EM, De Grandis D, Neri M, Codemo V, Novelli A, van Kuppevelt TH, Dallapiccola B, van Engelen BG, Ferlini A, Tomelleri G. Guglielmi V, et al. Among authors: gualandi f. Mol Genet Metab. 2013 Sep-Oct;110(1-2):162-9. doi: 10.1016/j.ymgme.2013.07.015. Epub 2013 Jul 20. Mol Genet Metab. 2013. PMID: 23911890
297 results