Andria G - Search Results

1

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.

Vyletal P, Sokolová J, Cooper DN, Kraus JP, Krawczak M, Pepe G, Rickards O, Koch HG, Linnebank M, Kluijtmans LA, Blom HJ, Boers GH, Gaustadnes M, Skovby F, Wilcken B, Wilcken DE, Andria G, Sebastio G, Naughten ER, Yap S, Ohura T, Pronicka E, Laszlo A, Kozich V. Vyletal P, et al. Among authors: andria g. Hum Mutat. 2007 Mar;28(3):255-64. doi: 10.1002/humu.20430. Hum Mutat. 2007. PMID: 17072863 Free PMC article.

2

Cystathionine beta-synthase mutations in homocystinuria.

Kraus JP, Janosík M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M. Kraus JP, et al. Among authors: andria g. Hum Mutat. 1999;13(5):362-75. doi: 10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K. Hum Mutat. 1999. PMID: 10338090 Review.

3

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA. Morris AA, et al. Among authors: andria g. J Inherit Metab Dis. 2017 Jan;40(1):49-74. doi: 10.1007/s10545-016-9979-0. Epub 2016 Oct 24. J Inherit Metab Dis. 2017. PMID: 27778219 Free PMC article. Review.

4

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.

5

The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

Mudd SH, Skovby F, Levy HL, Pettigrew KD, Wilcken B, Pyeritz RE, Andria G, Boers GH, Bromberg IL, Cerone R, et al. Mudd SH, et al. Among authors: andria g. Am J Hum Genet. 1985 Jan;37(1):1-31. Am J Hum Genet. 1985. PMID: 3872065 Free PMC article.

6

Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.

Sperandeo MP, Andria G, Sebastio G. Sperandeo MP, et al. Among authors: andria g. Hum Mutat. 2008 Jan;29(1):14-21. doi: 10.1002/humu.20589. Hum Mutat. 2008. PMID: 17764084 Review.

7

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.

8

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. Among authors: andria g. Eur J Pediatr. 1998 Apr;157 Suppl 2:S67-70. doi: 10.1007/pl00014309. Eur J Pediatr. 1998. PMID: 9587029 Review.

9

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.

10

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. Among authors: andria g. Thromb Haemost. 2000 Oct;84(4):576-82. Thromb Haemost. 2000. PMID: 11057853

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