Elenco Pubblicazioni

ELENCO PUBBLICAZIONI

1. Morelli A, Filippi S, Comeglio P, Sarchielli E, Chavalmane AK, Vignozzi L, Fibbi B, Silvestrini E, Sandner P, Gacci M, Carini M, Vannelli GB, Maggi M. Acute Vardenafil Administration Improves Bladder Oxygenation in Spontaneously Hypertensive Rats. J Sex Med. 2009 Nov 3. [Epub ahead of print]. PubMed PMID: 19889145.
2. Faivre L, Collod-Beroud G, Callewaert B, Child A, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Beroud C, Bonithon-Kopp C, Claustres M, Stheneur C, Bouchot O, Wolf JE, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G. Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus onpatients with an isolated major criterion. Am J Med Genet A. 2009 May;149A(5):854-60. PubMed PMID: 19353630.
3. Faivre L, Masurel-Paulet A, Collod-Béroud G, Callewaert BL, Child AH, Stheneur C, Binquet C, Gautier E, Chevallier B, Huet F, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Halliday DJ, Béroud C, Bonithon-Kopp C, Claustres M, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics. 2009 Jan;123(1):391-8. PubMed PMID: 19117906.
4. Faivre L, Collod-Beroud G, Callewaert B, Child A, Binquet C, Gautier E, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Wolf JE, Bouchot O, Khau-Van-Kien P, Beroud C, Claustres M, Bonithon-Kopp C, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. Eur J Hum Genet. 2009 Apr;17(4):491-501. Epub 2008 Nov 12. PubMed PMID: 19002209; PubMed Central PMCID: PMC2734964.
5. Dundar M, Erkilic K, Argun M, Caglayan AO, Comeglio P, Koseoglu E, Matyas G, Child AH. Scoliosis, blindness and arachnodactyly in a large Turkish family: is it a new syndrome? Genet Couns. 2008;19(3):319-30. PubMed PMID: 18990988.
6. Faivre L, Collod-Beroud G, Child A, Callewaert B, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G. Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. J Med Genet. 2008 Jun;45(6):384-90. Epub 2008 Feb 29. PubMed PMID: 18310266.
7. Child A, Comeglio P, Arno G, Beighton P. Marfan syndrome in South Africa: a molecular genetic approach to diagnosis. S Afr Med J. 2007 Sep;97(9):845-7. PubMed PMID: 17985054.
8. Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet. 2007 Sep;81(3):454-66. Epub 2007 Jul 25. PubMed PMID: 17701892; PubMed Central PMCID: PMC1950837.
9. Comeglio P, Johnson P, Arno G, Brice G, Evans A, Aragon-Martin J, da Silva FP, Kiotsekoglou A, Child A. The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. Hum Mutat. 2007 Sep;28(9):928. PubMed PMID: 17657824.
10. Masood I, Negi A, Vernon SA, Comeglio P, Child AH. The -174G/C interleukin-6 promoter polymorphism influences the development of macular oedema following uncomplicated phacoemulsification surgery. Eye. 2007 Nov;21(11):1412-5. Epub 2006 Oct 6. PubMed PMID: 17024220.
11. Elçioglu NH, Akalin F, Elçioglu M, Comeglio P, Child AH. Neonatal Marfan syndrome caused by an exon 25 mutation of the fibrillin-1 gene. Genet Couns. 2004;15(2):219-25. PubMed PMID: 15287423.
12. Evans AL, Bell R, Brice G, Comeglio P, Lipede C, Jeffery S, Mortimer P, Sarfarazi M, Child AH. Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema. J Med Genet. 2003 Sep;40(9):697-703. PubMed PMID: 12960217; PubMed Central PMCID: PMC1735587.
13. Collod-Béroud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson P, Steinmann B, Junien C, Béroud C, Boileau C. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat. 2003 Sep;22(3):199-208. Review. PubMed PMID: 12938084.
14. Behan WM, Longman C, Petty RK, Comeglio P, Child AH, Boxer M, Foskett P, Harriman DG. Muscle fibrillin deficiency in Marfan's syndrome myopathy. J Neurol Neurosurg Psychiatry. 2003 May;74(5):633-8. PubMed PMID: 12700307; PubMed Central PMCID: PMC1738457.
15. Comeglio P, Evans AL, Brice GW, Anderlid BM, Child AH. Gene symbol: FBN1. Disease: Marfan syndrome. Hum Genet. 2003 Jan;112(1):104. PubMed PMID: 12575662.
16. Comeglio P, Evans AL, Brice G, Cooling RJ, Child AH. Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. Br J Ophthalmol. 2002 Dec;86(12):1359-62. PubMed PMID: 12446365; PubMed Central PMCID: PMC1771443.
17. Comeglio P, Evans AL, Brice GW, Child AH. Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome. Hum Mutat. 2001 Dec;18(6):546-7. PubMed PMID: 11748851.
18. Comeglio P, Evans AL, Brice GW, Child AH. Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome. Hum Mutat. 2001 Sep;18(3):251. Corrected and republished in: Hum Mutat. 2001 Dec;18(6):546-7. PubMed PMID: 11524736.
19. Pepe G, Giusti B, Evangelisti L, Porciani MC, Brunelli T, Giurlani L, Attanasio M, Fattori R, Bagni C, Comeglio P, Abbate R, Gensini GF. Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation. Clin Genet. 2001 Jun;59(6):444-50. PubMed PMID: 11453977.
20. Pepe G, Giusti B, Attanasio M, Evangelisti L, Brunelli T, Comeglio P, Rossi L, Porciani MC, Giurlani L, Conte R, Gensini GF. [Thoracic aortic aneurysm. New evidence for fibrillin-1 involvement]. Minerva Cardioangiol. 1999 Dec;47(12):548-9. Italian. PubMed PMID: 10670197.
21. Giurlani L, Pepe G, Giusti B, Attanasio M, Comeglio P, Porciani MC, Evangelisti L, Brunelli T, Lucarini L, Abbate R. [Marfan's syndrome. Clinical and molecular characterization of 51 Italian patients]. Minerva Cardioangiol. 1999 Dec;47(12):544. Italian. PubMed PMID: 10670195.
22. Pepe G, Bertini E, Giusti B, Brunelli T, Comeglio P, Saitta B, Merlini L, Chu ML, Federici G, Abbate R. A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. Neuromuscul Disord. 1999 Jun;9(4):264-71. PubMed PMID: 10399756.
23. Giusti B, Camacho-Vanegas O, Attanasio M, Comeglio P, Gori AM, Brunelli T, Prisco D, Gensini GF, Abbate R, Pepe G. Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy. Thromb Res. 1999 May 15;94(4):249-54. PubMed PMID: 10336241.
24. Pepe G, Giusti B, Bertini E, Brunelli T, Saitta B, Comeglio P, Bolognese A, Merlini L, Federici G, Abbate R, Chu ML. A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy. Biochem Biophys Res Commun. 1999 May 19;258(3):802-7. PubMed PMID: 10329467.
25. Gori AM, Pepe G, Attanasio M, Falciani M, Abbate R, Prisco D, Fedi S, Giusti B, Brunelli T, Giusti B, Brunelli T, Comeglio P, Gensini GF, Neri Serneri GG. Tissue factor reduction and tissue factor pathway inhibitor release after heparin administration. Thromb Haemost. 1999 Apr;81(4):589-93. PubMed PMID: 10235445.
26. Pepe G, Vanegas OC, Rickards O, Giusti B, Comeglio P, Brunelli T, Marcucci R, Prisco D, Gensini GF, Abbate R. World distribution of the T833C/844INS68 CBS in cis double mutation: a reliable anthropological marker. Hum Genet. 1999 Feb;104(2):126-9. PubMed PMID: 10190322.
27. Attanasio M, Gori AM, Giusti B, Pepe G, Comeglio P, Brunelli T, Prisco D, Abbate R, Gensini GF, Neri Serneri GG. Cytokine gene expression in human LPS- and IFNgamma-stimulated mononuclear cells is inhibited by heparin. Thromb Haemost. 1998 May;79(5):959-62. PubMed PMID: 9609229.
28. Giusti B, Comeglio P, Attanasio M, Gori AM, Brunelli T, Prisco D, Pepe G, Gensini GF, Abbate R. Different distribution of the double mutant "T833C/68 bp insertion" in cystathionine beta-synthase gene in Northern and Southern Italian populations. Thromb Haemost. 1997 Oct;78(4):1293. PubMed PMID: 9365000.
29. Pepe G, Giusti B, Attanasio M, Comeglio P, Porciani MC, Giurlani L, Montesi GF, Calamai GC, Vaccari M, Favilli S, Abbate R, Gensini GF. A major involvement of the cardiovascular system in patients affected by Marfan syndrome: novel mutations in fibrillin 1 gene. J Mol Cell Cardiol. 1997 Jul;29(7):1877-84. PubMed PMID: 9236141.
30. Pepe G, Giusti B, Attanasio M, Gori AM, Comeglio P, Martini F, Gensini G, Abbate R, Neri Serneri GG. Tissue factor and plasminogen activator inhibitor type 2 expression in human stimulated monocytes is inhibited by heparin. Semin Thromb Hemost. 1997;23(2):135-41. PubMed PMID: 9200337.
31. Francalanci I, Comeglio P, Alessandrello Liotta A, Cellai AP, Fedi S, Parretti E, Mecacci F, Mello G, Prisco D, Abbate R. D-dimer plasma levels during normal pregnancy measured by specific ELISA. Int J Clin Lab Res. 1997;27(1):65-7. PubMed PMID: 9144030.
32. Comeglio P, Fedi S, Liotta AA, Cellai AP, Chiarantini E, Prisco D, Mecacci F, Parretti E, Mello G, Abbate R. Blood clotting activation during normal pregnancy. Thromb Res. 1996 Nov 1;84(3):199-202. PubMed PMID: 8914219.
33. Comeglio P, Saitta B, Pepe G, Chu ML. Identification of a polymorphic CA repeat in the COL6A2 gene on human chromosome 21q22.3. Hum Hered. 1996 Jul-Aug;46(4):239-40. PubMed PMID: 8807328.
34. Prisco D, Zarone N, Liotta AA, Cellai AP, Comeglio P, Fedi S, Francalanci I, Abbate R. Clottable to immunological fibrinogen ratio in plasma from control subjects and hyperfibrinogenemic patients. Haemostasis. 1995 Nov-Dec;25(6):257-63. PubMed PMID: 8586315.
35. Francalanci I, Comeglio P, Liotta AA, Cellai AP, Fedi S, Parretti E, Mello G, Prisco D, Abbate R. D-Dimer in intra-uterine growth retardation and gestational hypertension. Thromb Res. 1995 Oct 1;80(1):89-92. PubMed PMID: 8578542.
36. Prisco D, Paniccia R, Coppo M, Filippini M, Francalanci I, Brunelli T, Comeglio P, Abbate R. Platelet activation and platelet lipid composition in pulmonary cancer. Prostaglandins Leukot Essent Fatty Acids. 1995 Jul;53(1):65-8. PubMed PMID: 7675825.
37. Francalanci I, Comeglio P, Liotta AA, Cellai AP, Fedi S, Parretti E, Mello G, Prisco D, Abbate R. D-dimer concentrations during normal pregnancy, as measured by ELISA. Thromb Res. 1995 Jun 1;78(5):399-405. PubMed PMID: 7660356.
38. Abbate R, Gori AM, Martini F, Attanasio M, Comeglio P, Giusti B, Zarone N, Francalanci I, Prisco D, Gensini GF. Defibrotide reduces monocyte PAI-2 and procoagulant activity. Semin Thromb Hemost. 1995;21(2):245-50. PubMed PMID: 7660147.
39. Prisco D, Paniccia R, Filippini M, Francalanci I, Bandinelli B, Comeglio P, Rostagno C, Abbate R, Neri Serneri GG. No changes in PAI-1 levels after four-month n-3 PUFA ethyl ester supplementation in healthy subjects. Thromb Res. 1994 Nov 1;76(3):237-44. PubMed PMID: 7863474.