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Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.
de Crecchio G, Simonelli F, Nunziata G, Mazzeo S, Greco GM, Rinaldi E, Ventruto V, Ciccodicola A, Miano MG, Testa F, Curci A, D'Urso M, Rinaldi MM, Cavaliere ML, Castelluccio P. de Crecchio G, et al. Clin Genet. 1998 Oct;54(4):315-20. doi: 10.1034/j.1399-0004.1998.5440409.x. Clin Genet. 1998. PMID: 9831343
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.
Laperuta C, Spizzichino L, D'Adamo P, Monfregola J, Maiorino A, D'Eustacchio A, Ventruto V, Neri G, D'Urso M, Chiurazzi P, Ursini MV, Miano MG. Laperuta C, et al. BMC Med Genet. 2007 May 4;8:25. doi: 10.1186/1471-2350-8-25. BMC Med Genet. 2007. PMID: 17480217 Free PMC article.
Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families.
Di Leva F, D'Adamo AP, Strollo L, Auletta G, Caravelli A, Carella M, Mari F, Livi W, Renieri A, Gasparini P, D'Urso M, Marciano E, Franzé A. Di Leva F, et al. Int J Audiol. 2003 Dec;42(8):475-80. doi: 10.3109/14992020309081517. Int J Audiol. 2003. PMID: 14658855
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.
Miano MG, Testa F, Filippini F, Trujillo M, Conte I, Lanzara C, Millán JM, De Bernardo C, Grammatico B, Mangino M, Torrente I, Carrozzo R, Simonelli F, Rinaldi E, Ventruto V, D'Urso M, Ayuso C, Ciccodicola A. Miano MG, et al. Hum Mutat. 2001 Aug;18(2):109-19. doi: 10.1002/humu.1160. Hum Mutat. 2001. PMID: 11462235
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