de Franchis R - Search Results

1

The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.

Sebastio G, Sperandeo MP, Panico M, de Franchis R, Kraus JP, Andria G. Sebastio G, et al. Among authors: de franchis r. Am J Hum Genet. 1995 Jun;56(6):1324-33. Am J Hum Genet. 1995. PMID: 7762555 Free PMC article.

2

Contribution of the cystathionine beta-synthase gene (844ins68) polymorphism to the risk of early-onset venous and arterial occlusive disease and of fasting hyperhomocysteinemia.

de Franchis R, Fermo I, Mazzola G, Sebastio G, Di Minno G, Coppola A, Andria G, D'Angelo A. de Franchis R, et al. Thromb Haemost. 2000 Oct;84(4):576-82. Thromb Haemost. 2000. PMID: 11057853

3

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. Among authors: de franchis r. 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.

4

Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11.

Sperandeo MP, Panico M, Pepe A, Candito M, de Franchis R, Kraus JP, Andria G, Sebastio G. Sperandeo MP, et al. Among authors: de franchis r. J Inherit Metab Dis. 1995;18(2):211-4. doi: 10.1007/BF00711769. J Inherit Metab Dis. 1995. PMID: 7564249 No abstract available.

5

Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level.

Kozich V, Kraus E, de Franchis R, Fowler B, Boers GH, Graham I, Kraus JP. Kozich V, et al. Among authors: de franchis r. Hum Mol Genet. 1995 Apr;4(4):623-9. doi: 10.1093/hmg/4.4.623. Hum Mol Genet. 1995. PMID: 7633411

6

Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.

Marble M, Geraghty MT, de Franchis R, Kraus JP, Valle D. Marble M, et al. Among authors: de franchis r. Hum Mol Genet. 1994 Oct;3(10):1883-6. doi: 10.1093/hmg/3.10.1883. Hum Mol Genet. 1994. PMID: 7849717

7

Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.

de Franchis R, Kozich V, McInnes RR, Kraus JP. de Franchis R, et al. Hum Mol Genet. 1994 Jul;3(7):1103-8. doi: 10.1093/hmg/3.7.1103. Hum Mol Genet. 1994. PMID: 7981678

8

Molecular defect in a patient with pyridoxine-responsive homocystinuria.

Kozich V, de Franchis R, Kraus JP. Kozich V, et al. Among authors: de franchis r. Hum Mol Genet. 1993 Jun;2(6):815-6. doi: 10.1093/hmg/2.6.815. Hum Mol Genet. 1993. PMID: 8353501 No abstract available.

9

A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA.

Sperandeo MP, de Franchis R, Andria G, Sebastio G. Sperandeo MP, et al. Among authors: de franchis r. Am J Hum Genet. 1996 Dec;59(6):1391-3. Am J Hum Genet. 1996. PMID: 8940285 Free PMC article. No abstract available.

10

Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.

De Franchis R, Sperandeo MP, Sebastio G, Andria G. De Franchis R, et al. Eur J Pediatr. 1998 Apr;157 Suppl 2:S67-70. doi: 10.1007/pl00014309. Eur J Pediatr. 1998. PMID: 9587029 Review.

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