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Page 1
SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.
Hostetler EM, Regalado ES, Guo DC, Hanna N, Arnaud P, Muiño-Mosquera L, Callewaert BL, Lee K, Leal SM, Wallace SE, Rideout AL, Dyack S, Aatre RD, Boileau C, De Backer J, Jondeau G, Milewicz DM. Hostetler EM, et al. Among authors: callewaert bl. J Med Genet. 2019 Apr;56(4):252-260. doi: 10.1136/jmedgenet-2018-105583. Epub 2019 Jan 19. J Med Genet. 2019. PMID: 30661052
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC. Loeys BL, et al. Among authors: callewaert bl. N Engl J Med. 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695. N Engl J Med. 2006. PMID: 16928994 Free 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: callewaert b. 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.
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: callewaert b. 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.
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: callewaert b. 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.
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.
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. Faivre L, et al. Among authors: callewaert bl. Pediatrics. 2009 Jan;123(1):391-8. doi: 10.1542/peds.2008-0703. Pediatrics. 2009. PMID: 19117906 Free 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: callewaert b. 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 revised Ghent nosology for the Marfan syndrome.
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. Loeys BL, et al. Among authors: callewaert bl. J Med Genet. 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785. J Med Genet. 2010. PMID: 20591885
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: callewaert bl. 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.
139 results