Dionisi-Vici C - Search Results

1

Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome.

Didona B, Codispoti A, Bertini E, Rizzo WB, Carney G, Zambruno G, Dionisi-Vici C, Paradisi M, Pedicelli C, Melino G, Terrinoni A. Didona B, et al. J Hum Genet. 2007;52(10):865-870. doi: 10.1007/s10038-007-0180-z. J Hum Genet. 2007. PMID: 17902024 Free PMC article.

2

Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency.

Bertini E, Dionisi-Vici C, Garavaglia B, Burlina AB, Sabatelli M, Rimoldi M, Bartuli A, Sabetta G, DiDonato S. Bertini E, et al. Eur J Pediatr. 1992 Feb;151(2):121-6. doi: 10.1007/BF01958956. Eur J Pediatr. 1992. PMID: 1537353

3

Congenital X-linked ataxia, progressive myoclonic encephalopathy, macular degeneration and recurrent infections.

Bertini E, Cusmai R, de Saint Basile G, Le Deist F, Di Capua M, Gaggero DR, Dionisi-Vici C, Santillo C, Caniglia M. Bertini E, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):443-51. doi: 10.1002/ajmg.1320430167. Am J Med Genet. 1992. PMID: 1605224

4

Aldolase B mutations in Italian families affected by hereditary fructose intolerance.

Sebastio G, de Franchis R, Strisciuglio P, Andria G, Dionisi Vici C, Sabetta G, Gatti R, Cross NC, Cox TM. Sebastio G, et al. J Med Genet. 1991 Apr;28(4):241-3. doi: 10.1136/jmg.28.4.241. J Med Genet. 1991. PMID: 1856829 Free PMC article.

5

Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

Dionisi Vici C, Burlina AB, Bertini E, Bachmann C, Mazziotta MR, Zacchello F, Sabetta G, Hale DE. Dionisi Vici C, et al. J Pediatr. 1991 May;118(5):744-6. doi: 10.1016/s0022-3476(05)80039-3. J Pediatr. 1991. PMID: 2019931 No abstract available.

6

Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments.

Bertini E, Bosman C, Bevilacqua M, Ricci E, Gagliardi GM, Parisi F, Servidei S, Dionisi-Vici C, Ballerini L. Bertini E, et al. Eur J Pediatr. 1990 Sep;149(12):856-8. doi: 10.1007/BF02072073. Eur J Pediatr. 1990. PMID: 2226571

7

Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers.

Dionisi Vici C, Sabetta G, Gambarara M, Vigevano F, Bertini E, Boldrini R, Parisi SG, Quinti I, Aiuti F, Fiorilli M. Dionisi Vici C, et al. Am J Med Genet. 1988 Jan;29(1):1-8. doi: 10.1002/ajmg.1320290102. Am J Med Genet. 1988. PMID: 3344762

8

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.

Dionisi-Vici C, Seneca S, Zeviani M, Fariello G, Rimoldi M, Bertini E, De Meirleir L. Dionisi-Vici C, et al. J Inherit Metab Dis. 1998 Feb;21(1):2-8. doi: 10.1023/a:1005397227996. J Inherit Metab Dis. 1998. PMID: 9501263

9

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.

Jaeken J, Matthijs G, Saudubray JM, Dionisi-Vici C, Bertini E, de Lonlay P, Henri H, Carchon H, Schollen E, Van Schaftingen E. Jaeken J, et al. Am J Hum Genet. 1998 Jun;62(6):1535-9. doi: 10.1086/301873. Am J Hum Genet. 1998. PMID: 9585601 Free PMC article. No abstract available.

10

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T, Zeviani M. Tiranti V, et al. Am J Hum Genet. 1998 Dec;63(6):1609-21. doi: 10.1086/302150. Am J Hum Genet. 1998. PMID: 9837813 Free PMC article.

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