Ocular albinism : evidence for a defect in an intracellular signal transduction systemSCHIAFFINO, M. V; D'ADDIO, M; TACCHETTI, C et al.Nature genetics. 1999, Vol 23, Num 1, pp 108-112, issn 1061-4036Article

A new region of conservation is defined between human and mouse X chromosomesDINULOS, M. B; BASSI, M. T; RUGARLI, E. I et al.Genomics (San Diego, Calif.). 1996, Vol 35, Num 1, pp 244-247, issn 0888-7543Article

Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical regionSCHIAFFINO, M. V; BASSI, M. T; RUGARLI, E. I et al.Human molecular genetics (Print). 1995, Vol 4, Num 3, pp 373-382, issn 0964-6906Article

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2CRIMELLA, C; BASCHIROTTO, C; BENEDETTI, S et al.Clinical genetics. 2012, Vol 82, Num 2, pp 157-164, issn 0009-9163, 8 p.Article

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosumCRIMELLA, C; ARNOLDI, A; TOSCANO, A et al.Journal of medical genetics. 2009, Vol 46, Num 5, pp 345-351, issn 0022-2593, 7 p.Article

Identification of a new EGF-repeat-containing gene from human Xp22 : A candidate for developmental disordersBUCHNER, G; ORFANELLI, U; QUADERI, N et al.Genomics (San Diego, Calif.). 2000, Vol 65, Num 1, pp 16-23, issn 0888-7543Article

Isolation of an active gene encoding human hnRNP protein A1: evidence for alternative splicingBIAMONTI, G; BUVOLI, M; BASSI, M. T et al.Journal of molecular biology. 1989, Vol 207, Num 3, pp 491-503, issn 0022-2836Article

cDNA cloning of human hnRNP protein A1 reveals the existence of multiple mRNA isoformsBUVOLI, M; BIAMONTI, G; TSOULFAS, P et al.Nucleic acids research. 1988, Vol 16, Num 9, pp 3751-3770, issn 0305-1048Article

Aberrant splicing due to a silent nucleotide change in CCM2 gene in a family with cerebral cavernous malformation. Authors' replyTONELLI, A; LANFRANCONI, S; BERSANO, A et al.Clinical genetics. 2009, Vol 75, Num 5, pp 494-497, issn 0009-9163, 4 p.Article

A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardationBORGATTI, R; ZUCCA, C; TAGLIALATELA, M et al.Neurology. 2004, Vol 63, Num 1, pp 57-65, issn 0028-3878, 9 p.Article

SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter familyBASSI, M. T; SPERANDEO, M. P; MANZONI, M et al.Genomics (San Diego, Calif.). 1999, Vol 62, Num 2, pp 297-303, issn 0888-7543Article

MID2, a homologue of the Opitz syndrome gene MID1 : similarities in subcellular localization and differences in expression during developmentBUCHNER, G; MONTINI, E; ANDOLFI, G et al.Human molecular genetics (Print). 1999, Vol 8, Num 8, pp 1397-1407, issn 0964-6906Article

A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22WAPENAAR, M. C; SCHIAFFINO, M. V; BASSI, M. T et al.Human molecular genetics (Print). 1994, Vol 3, Num 7, pp 1151-1161, issn 0964-6906Article

A gene from the Xp22.3 region shares homology with voltage-gated chloride channelsVAN SLEGTENHORST, M. A; BASSI, M. T; BALLABIO, A et al.Human molecular genetics (Print). 1994, Vol 3, Num 4, pp 547-552, issn 0964-6906Article

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2KCRIMELLA, C; TONELLI, A; AIROLDI, G et al.Journal of medical genetics. 2010, Vol 47, Num 10, pp 712-716, issn 0022-2593, 5 p.Article

Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunctionDEL BO, R; MOGGIO, M; LAMPERTI, C et al.Neurology. 2008, Vol 71, Num 24, pp 1959-1966, issn 0028-3878, 8 p.Article

Molecular cloning and characterization of NEU4, the fourth member of the human sialidase gene familyMONTI, E; BASSI, M. T; TETTAMANTI, G et al.Genomics (San Diego, Calif.). 2004, Vol 83, Num 3, pp 445-453, issn 0888-7543, 9 p.Article

Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis developmentKOSAKI, K; BASSI, M. T; KOSAKI, R et al.American journal of human genetics. 1999, Vol 64, Num 3, pp 712-721, issn 0002-9297Article

X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeatsBASSI, M. T; RAMESAR, R. S; CACIOTTI, B et al.American journal of human genetics. 1999, Vol 64, Num 6, pp 1604-1616, issn 0002-9297Article

Identification of a novel homolog of the Drosophila staufen protein in the chromosome 8q13-q21.1 regionBUCHNER, G; BASSI, M. T; ANDOLFI, G et al.Genomics (San Diego, Calif.). 1999, Vol 62, Num 1, pp 113-118, issn 0888-7543Article

X-linked situs abnormalities result from mutations in ZIC3GEBBIA, M; FERRERO, G. B; NELSON, D. L et al.Nature genetics. 1997, Vol 17, Num 3, pp 305-308, issn 1061-4036Article

A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1)BASSI, M. T; BERGEN, A. A. B; WAPENAAR, M. C et al.Human molecular genetics (Print). 1994, Vol 3, Num 4, pp 647-648, issn 0964-6906Article

The genes of X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regionsWAPENAAR, M. C; BASSI, M. T; SCHAEFER, L et al.Human molecular genetics (Print). 1993, Vol 2, Num 7, pp 947-952, issn 0964-6906Article

Molecular cloning of Bacillus subtilis genes involved in DNA metabolismPEREGO, M; FERRARI, E; BASSI, M. T et al.MGG. Molecular & general genetics. 1987, Vol 209, Num 1, pp 8-14, issn 0026-8925Article