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485 results

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Page 1
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.
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. Faivre L, et al. Among authors: arbustini e. Eur J Hum Genet. 2009 Apr;17(4):491-501. doi: 10.1038/ejhg.2008.207. Epub 2008 Nov 12. Eur J Hum Genet. 2009. PMID: 19002209 Free PMC article.
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.
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. Faivre L, et al. Among authors: arbustini e. Am J Hum Genet. 2007 Sep;81(3):454-66. doi: 10.1086/520125. Epub 2007 Jul 25. Am J Hum Genet. 2007. PMID: 17701892 Free PMC article.
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.
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. Faivre L, et al. Among authors: arbustini e. Am J Med Genet A. 2009 May;149A(5):854-60. doi: 10.1002/ajmg.a.32809. Am J Med Genet A. 2009. PMID: 19353630 Free article.
The new Ghent criteria for Marfan syndrome: what do they change?
Faivre L, Collod-Beroud G, Adès L, Arbustini E, Child A, Callewaert BL, Loeys B, Binquet C, Gautier E, Mayer K, Arslan-Kirchner M, Grasso M, Beroud C, Hamroun D, Bonithon-Kopp C, Plauchu H, Robinson PN, De Backer J, Coucke P, Francke U, Bouchot O, Wolf JE, Stheneur C, Hanna N, Detaint D, De Paepe A, Boileau C, Jondeau G. Faivre L, et al. Among authors: arbustini e. Clin Genet. 2012 May;81(5):433-42. doi: 10.1111/j.1399-0004.2011.01703.x. Epub 2011 Jun 2. Clin Genet. 2012. PMID: 21564093 Free article.
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.
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. Faivre L, et al. Among authors: arbustini e. J Med Genet. 2008 Jun;45(6):384-90. doi: 10.1136/jmg.2007.056382. Epub 2008 Feb 29. J Med Genet. 2008. PMID: 18310266 Free article.
Gene symbol: LMNA.
Arbustini E, Pasotti M, Pilotto A, Diegoli M, Brega A, Disabella E, Grasso M, Marziliano N. Arbustini E, et al. Hum Genet. 2007 Feb;120(6):910. Hum Genet. 2007. PMID: 17438628 No abstract available.
Gene symbol: KCNQ1. Disease: LQT1.
Arbustini E, Diegoli M, Pasotti M, Grasso M, Marziliano N, Marini M, Zeni P, Disertori M. Arbustini E, et al. Hum Genet. 2006 Jul;119(6):682. Hum Genet. 2006. PMID: 17128491 No abstract available.
Gene symbol: LDB3.
Arbustini E, Rossi ML, Marziliano N, Presbitero P, Pilotto A, Pasotti M, Grasso M. Arbustini E, et al. Hum Genet. 2007 Feb;120(6):910. Hum Genet. 2007. PMID: 17438604 No abstract available.
Gene symbol: LDB3.
Arbustini E, Rossi ML, Marziliano N, Presbitero P, Pilotto A, Pasotti M, Grasso M. Arbustini E, et al. Hum Genet. 2007 Feb;120(6):916-7. Hum Genet. 2007. PMID: 17438622 No abstract available.
Gene symbol: LMNA.
Arbustini E, Pasotti M, Pilotto A, Grasso M, Tagliani M, Lucchelli C, Campana C, Chiriatti G, Marziliano N, Landolina M. Arbustini E, et al. Hum Genet. 2007 Feb;120(6):917-8. Hum Genet. 2007. PMID: 17438626 No abstract available.
485 results