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The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.
Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R, Rozet JM, Tammur J, Testa F, Balcells S, Bird AC, Brunner HG, Hoyng CB, Metspalu A, Simonelli F, Allikmets R, Bhattacharya SS, D'Urso M, Gonzàlez-Duarte R, Kaplan J, te Meerman GJ, Santos R, Schwartz M, Van Camp G, Wadelius C, Weber BH, Cremers FP. Maugeri A, et al. Among authors: testa f. Eur J Hum Genet. 2002 Mar;10(3):197-203. doi: 10.1038/sj.ejhg.5200784. Eur J Hum Genet. 2002. PMID: 11973624
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.
Miano MG, Testa F, Strazzullo M, Trujillo M, De Bernardo C, Grammatico B, Simonelli F, Mangino M, Torrente I, Ruberto G, Beneyto M, Antinolo G, Rinaldi E, Danesino C, Ventruto V, D'Urso M, Ayuso C, Baiget M, Ciccodicola A. Miano MG, et al. Among authors: testa f. Eur J Hum Genet. 1999 Sep;7(6):687-94. doi: 10.1038/sj.ejhg.5200352. Eur J Hum Genet. 1999. PMID: 10482958
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. Among authors: testa f. Hum Mutat. 2001 Aug;18(2):109-19. doi: 10.1002/humu.1160. Hum Mutat. 2001. PMID: 11462235
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.
Jaakson K, Zernant J, Külm M, Hutchinson A, Tonisson N, Glavac D, Ravnik-Glavac M, Hawlina M, Meltzer MR, Caruso RC, Testa F, Maugeri A, Hoyng CB, Gouras P, Simonelli F, Lewis RA, Lupski JR, Cremers FP, Allikmets R. Jaakson K, et al. Among authors: testa f. Hum Mutat. 2003 Nov;22(5):395-403. doi: 10.1002/humu.10263. Hum Mutat. 2003. PMID: 14517951
Genetics of diabetic retinopathy.
Simonelli F, Testa F, Bandello F. Simonelli F, et al. Among authors: testa f. Semin Ophthalmol. 2001 Mar;16(1):41-51. doi: 10.1076/soph.16.1.41.4219. Semin Ophthalmol. 2001. PMID: 15487697 Review. No abstract available.
272 results