Bassi MT - Search Results

1

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.

Schiaffino MV, Bassi MT, Galli L, Renieri A, Bruttini M, De Nigris F, Bergen AA, Charles SJ, Yates JR, Meindl A, et al. Schiaffino MV, et al. Among authors: bassi mt. Hum Mol Genet. 1995 Dec;4(12):2319-25. doi: 10.1093/hmg/4.12.2319. Hum Mol Genet. 1995. PMID: 8634705

2

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.

Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A. Bassi MT, et al. Nat Genet. 1995 May;10(1):13-9. doi: 10.1038/ng0595-13. Nat Genet. 1995. PMID: 7647783

3

Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region.

Schiaffino MV, Bassi MT, Rugarli EI, Renieri A, Galli L, Ballabio A. Schiaffino MV, et al. Among authors: bassi mt. Hum Mol Genet. 1995 Mar;4(3):373-82. doi: 10.1093/hmg/4.3.373. Hum Mol Genet. 1995. PMID: 7795590

4

A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1).

Bassi MT, Bergen AA, Wapenaar MC, Schiaffino MV, van Schooneveld M, Yates JR, Charles SJ, Meitinger T, Ballabio A. Bassi MT, et al. Hum Mol Genet. 1994 Apr;3(4):647-8. doi: 10.1093/hmg/3.4.647. Hum Mol Genet. 1994. PMID: 8069311 No abstract available.

5

Ocular albinism: evidence for a defect in an intracellular signal transduction system.

Schiaffino MV, d'Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, Puri C, Bassi MT, Colla C, De Luca M, Tacchetti C, Ballabio A. Schiaffino MV, et al. Among authors: bassi mt. Nat Genet. 1999 Sep;23(1):108-12. doi: 10.1038/12715. Nat Genet. 1999. PMID: 10471510

6

Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.

d'Addio M, Pizzigoni A, Bassi MT, Baschirotto C, Valetti C, Incerti B, Clementi M, De Luca M, Ballabio A, Schiaffino MV. d'Addio M, et al. Among authors: bassi mt. Hum Mol Genet. 2000 Dec 12;9(20):3011-8. doi: 10.1093/hmg/9.20.3011. Hum Mol Genet. 2000. PMID: 11115845

7

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.

Bassi MT, Bergen AA, Bitoun P, Charles SJ, Clementi M, Gosselin R, Hurst J, Lewis RA, Lorenz B, Meitinger T, Messiaen L, Ramesar RS, Ballabio A, Schiaffino MV. Bassi MT, et al. Hum Genet. 2001 Jan;108(1):51-4. doi: 10.1007/s004390000440. Hum Genet. 2001. PMID: 11214907

8

A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22.

Wapenaar MC, Schiaffino MV, Bassi MT, Schaefer L, Chinault AC, Zoghbi HY, Ballabio A. Wapenaar MC, et al. Among authors: bassi mt. Hum Mol Genet. 1994 Jul;3(7):1155-61. doi: 10.1093/hmg/3.7.1155. Hum Mol Genet. 1994. PMID: 7981686

9

X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats.

Bassi MT, Ramesar RS, Caciotti B, Winship IM, De Grandi A, Riboni M, Townes PL, Beighton P, Ballabio A, Borsani G. Bassi MT, et al. Am J Hum Genet. 1999 Jun;64(6):1604-16. doi: 10.1086/302408. Am J Hum Genet. 1999. PMID: 10330347 Free PMC article.

10

Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis.

Renieri A, Bassi MT, Galli L, Zhou J, Giani M, De Marchi M, Ballabio A. Renieri A, et al. Among authors: bassi mt. Hum Mutat. 1994;4(3):195-8. doi: 10.1002/humu.1380040304. Hum Mutat. 1994. PMID: 7833948

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