Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 107

1.

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.

Nat Genet. 1995 May;10(1):13-9.

PMID:
7647783
2.

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.

Hum Mol Genet. 1995 Mar;4(3):373-82.

PMID:
7795590
3.

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.

Hum Mol Genet. 1995 Dec;4(12):2319-25.

PMID:
8634705
4.

Eight previously unidentified mutations found in the OA1 ocular albinism gene.

Mayeur H, Roche O, Vêtu C, Jaliffa C, Marchant D, Dollfus H, Bonneau D, Munier FL, Schorderet DF, Levin AV, Héon E, Sutherland J, Lacombe D, Said E, Mezer E, Kaplan J, Dufier JL, Marsac C, Menasche M, Abitbol M.

BMC Med Genet. 2006 Apr 28;7:41.

5.

Isolation and characterization of a mouse homolog of the X-linked ocular albinism (OA1) gene.

Newton JM, Orlow SJ, Barsh GS.

Genomics. 1996 Oct 15;37(2):219-25.

PMID:
8921399
6.
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.

Hum Genet. 2001 Jan;108(1):51-4.

PMID:
11214907
8.
9.

Mutational analysis of the OA1 gene in ocular albinism.

Camand O, Boutboul S, Arbogast L, Roche O, Sternberg C, Sutherland J, Levin A, Héon E, Menasche M, Dufier J, Abitbol M.

Ophthalmic Genet. 2003 Sep;24(3):167-73.

PMID:
12868035
10.

OA1 mutations and deletions in X-linked ocular albinism.

Schnur RE, Gao M, Wick PA, Keller M, Benke PJ, Edwards MJ, Grix AW, Hockey A, Jung JH, Kidd KK, Kistenmacher M, Levin AV, Lewis RA, Musarella MA, Nowakowski RW, Orlow SJ, Pagon RS, Pillers DA, Punnett HH, Quinn GE, Tezcan K, Wagstaff J, Weleber RG.

Am J Hum Genet. 1998 Apr;62(4):800-9.

11.

Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1.

Incerti B, Cortese K, Pizzigoni A, Surace EM, Varani S, Coppola M, Jeffery G, Seeliger M, Jaissle G, Bennett DC, Marigo V, Schiaffino MV, Tacchetti C, Ballabio A.

Hum Mol Genet. 2000 Nov 22;9(19):2781-8.

PMID:
11092754
12.

Ocular albinism type 1: more than meets the eye.

Shen B, Samaraweera P, Rosenberg B, Orlow SJ.

Pigment Cell Res. 2001 Aug;14(4):243-8. Review.

PMID:
11549106
13.

The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes.

Schiaffino MV, Baschirotto C, Pellegrini G, Montalti S, Tacchetti C, De Luca M, Ballabio A.

Proc Natl Acad Sci U S A. 1996 Aug 20;93(17):9055-60.

14.

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.

Hum Mol Genet. 2000 Dec 12;9(20):3011-8.

PMID:
11115845
15.

Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides.

Vetrini F, Tammaro R, Bondanza S, Surace EM, Auricchio A, De Luca M, Ballabio A, Marigo V.

Hum Mutat. 2006 May;27(5):420-6.

PMID:
16550551
16.

Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium.

Surace EM, Angeletti B, Ballabio A, Marigo V.

Invest Ophthalmol Vis Sci. 2000 Dec;41(13):4333-7.

PMID:
11095635
17.

GPR143 mutational analysis in two Italian families with X-linked ocular albinism.

Micale L, Augello B, Fusco C, Turturo MG, Granatiero M, Piemontese MR, Zelante L, Cecconi A, Merla G.

Genet Test Mol Biomarkers. 2009 Aug;13(4):527-31. doi: 10.1089/gtmb.2009.0030.

PMID:
19604113
18.

Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer.

Surace EM, Domenici L, Cortese K, Cotugno G, Di Vicino U, Venturi C, Cellerino A, Marigo V, Tacchetti C, Ballabio A, Auricchio A.

Mol Ther. 2005 Oct;12(4):652-8.

20.

Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1)

Lam BL, Fingert JH, Shutt BC, Singleton EM, Merin LM, Brown HH, Sheffield VC, Stone EM.

Ophthalmic Genet. 1997 Dec;18(4):175-84. Erratum in: Ophthalmic Genet 1998 Sep;19(3):173.

PMID:
9457748

Supplemental Content

Support Center