Porciani MC - Search Results

1

Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis.

Attanasio M, Pratelli E, Porciani MC, Evangelisti L, Torricelli E, Pellicanò G, Abbate R, Gensini GF, Pepe G. Attanasio M, et al. Among authors: porciani mc. Eur J Med Genet. 2013 Jul;56(7):356-60. doi: 10.1016/j.ejmg.2013.04.006. Epub 2013 May 15. Eur J Med Genet. 2013. PMID: 23684891

2

Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up.

Pepe G, Lapini I, Evangelisti L, Attanasio M, Giusti B, Lucarini L, Fattori R, Pellicanò G, Scrivanti M, Porciani MC, Abbate R, Gensini GF. Pepe G, et al. Among authors: porciani mc. Mol Vis. 2007 Nov 29;13:2242-7. Mol Vis. 2007. PMID: 18087243

3

Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation.

Pepe G, Giusti B, Evangelisti L, Porciani MC, Brunelli T, Giurlani L, Attanasio M, Fattori R, Bagni C, Comeglio P, Abbate R, Gensini GF. Pepe G, et al. Among authors: porciani mc. Clin Genet. 2001 Jun;59(6):444-50. doi: 10.1034/j.1399-0004.2001.590610.x. Clin Genet. 2001. PMID: 11453977 Free article.

4

[Prevalence of cardiovascular manifestations in Marfan syndrome].

Porciani MC, Attanasio M, Lepri V, Lapini I, Demarchi G, Padeletti L, Pepe G, Abbate R, Gensini GF. Porciani MC, et al. Ital Heart J Suppl. 2004 Aug;5(8):647-52. Ital Heart J Suppl. 2004. PMID: 15554020 Italian.

5

Phenotypic variability of cardiovascular manifestations in Marfan Syndrome. Possible role of hyperhomocysteinemia and C677T MTHFR gene polymorphism.

Giusti B, Porciani MC, Brunelli T, Evangelisti L, Fedi S, Gensini GF, Abbate R, Sani G, Yacoub M, Pepe G. Giusti B, et al. Among authors: porciani mc. Eur Heart J. 2003 Nov;24(22):2038-45. doi: 10.1016/j.ehj.2003.08.020. Eur Heart J. 2003. PMID: 14613740

6

A major involvement of the cardiovascular system in patients affected by Marfan syndrome: novel mutations in fibrillin 1 gene.

Pepe G, Giusti B, Attanasio M, Comeglio P, Porciani MC, Giurlani L, Montesi GF, Calamai GC, Vaccari M, Favilli S, Abbate R, Gensini GF. Pepe G, et al. Among authors: porciani mc. J Mol Cell Cardiol. 1997 Jul;29(7):1877-84. doi: 10.1006/jmcc.1997.0426. J Mol Cell Cardiol. 1997. PMID: 9236141

7

May TGFBR1 act also as low penetrance allele in Marfan syndrome?

Lucarini L, Evangelisti L, Attanasio M, Lapini I, Chiarini F, Porciani MC, Abbate R, Gensini G, Pepe G. Lucarini L, et al. Among authors: porciani mc. Int J Cardiol. 2009 Jan 9;131(2):281-4. doi: 10.1016/j.ijcard.2007.07.048. Epub 2007 Oct 22. Int J Cardiol. 2009. PMID: 17936924

8

Vascular and connective tissue features in 5 Italian patients with homocystinuria.

Evangelisti L, Lucarini L, Attanasio M, Porciani MC, Romano E, Prisco D, Gensini GF, Abbate R, Pepe G. Evangelisti L, et al. Among authors: porciani mc. Int J Cardiol. 2009 May 15;134(2):251-4. doi: 10.1016/j.ijcard.2007.12.029. Epub 2008 Feb 15. Int J Cardiol. 2009. PMID: 18280597

9

[Marfan's syndrome. Clinical and molecular characterization of 51 Italian patients].

Giurlani L, Pepe G, Giusti B, Attanasio M, Comeglio P, Porciani MC, Evangelisti L, Brunelli T, Lucarini L, Abbate R. Giurlani L, et al. Among authors: porciani mc. Minerva Cardioangiol. 1999 Dec;47(12):544. Minerva Cardioangiol. 1999. PMID: 10670195 Italian. No abstract available.

10

Evidence for oxidative stress in plasma of patients with Marfan syndrome.

Fiorillo C, Becatti M, Attanasio M, Lucarini L, Nassi N, Evangelisti L, Porciani MC, Nassi P, Gensini GF, Abbate R, Pepe G. Fiorillo C, et al. Among authors: porciani mc. Int J Cardiol. 2010 Dec 3;145(3):544-6. doi: 10.1016/j.ijcard.2010.04.077. Int J Cardiol. 2010. PMID: 20537738 No abstract available.

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