Andria G - Search Results

1

Spina bifida, 677T-->C mutation, and role of folate.

de Franchis R, Sebastio G, Mandato C, Andria G, Mastroiacovo P. de Franchis R, et al. Among authors: andria g. Lancet. 1995 Dec 23-30;346(8991-8992):1703. doi: 10.1016/s0140-6736(95)92865-0. Lancet. 1995. PMID: 8551837 No abstract available.

2

Spina bifida and folate-related genes: a study of gene-gene interactions.

de Franchis R, Botto LD, Sebastio G, Ricci R, Iolascon A, Capra V, Andria G, Mastroiacovo P. de Franchis R, et al. Among authors: andria g. Genet Med. 2002 May-Jun;4(3):126-30. doi: 10.1097/00125817-200205000-00005. Genet Med. 2002. PMID: 12180146 Free article.

3

The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy.

de Franchis R, Buoninconti A, Mandato C, Pepe A, Sperandeo MP, Del Gado R, Capra V, Salvaggio E, Andria G, Mastroiacovo P. de Franchis R, et al. Among authors: andria g. J Med Genet. 1998 Dec;35(12):1009-13. doi: 10.1136/jmg.35.12.1009. J Med Genet. 1998. PMID: 9863598 Free PMC article.

4

Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring.

Scala I, Granese B, Sellitto M, Salomè S, Sammartino A, Pepe A, Mastroiacovo P, Sebastio G, Andria G. Scala I, et al. Among authors: andria g. Genet Med. 2006 Jul;8(7):409-16. doi: 10.1097/01.gim.0000228206.21793.82. Genet Med. 2006. PMID: 16845273 Free article.

5

Elevated total plasma homocysteine and 677C-->T mutation of the 5,10-methylenetetrahydrofolate reductase gene in thrombotic vascular disease.

de Franchis R, Mancini FP, D'Angelo A, Sebastio G, Fermo I, de Stefano V, Margaglione M, Mazzola G, di Minno G, Andria G. de Franchis R, et al. Among authors: andria g. Am J Hum Genet. 1996 Jul;59(1):262-4. Am J Hum Genet. 1996. PMID: 8659535 Free PMC article. No abstract available.

6

Re: folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women.

Scala I, Granese B, Lisi A, Mastroiacovo P, Andria G. Scala I, et al. Among authors: andria g. Am J Med Genet A. 2007 May 1;143A(9):1015-7; discussion 1018-9. doi: 10.1002/ajmg.a.31693. Am J Med Genet A. 2007. PMID: 17431899 No abstract available.

7

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: andria g. J Inherit Metab Dis. 1995;18(2):211-4. doi: 10.1007/BF00711769. J Inherit Metab Dis. 1995. PMID: 7564249 No abstract available.

8

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: andria g. Am J Hum Genet. 1995 Jun;56(6):1324-33. Am J Hum Genet. 1995. PMID: 7762555 Free PMC article.

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: andria g. Am J Hum Genet. 1996 Dec;59(6):1391-3. Am J Hum Genet. 1996. PMID: 8940285 Free PMC article. No abstract available.

10

Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.

De Brasi D, Esposito T, Rossi M, Parenti G, Sperandeo MP, Zuppaldi A, Bardaro T, Ambruzzi MA, Zelante L, Ciccodicola A, Sebastio G, D'Urso M, Andria G. De Brasi D, et al. Among authors: andria g. Eur J Hum Genet. 1999 Dec;7(8):937-40. doi: 10.1038/sj.ejhg.5200390. Eur J Hum Genet. 1999. PMID: 10602371

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