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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 1
1992 5
1993 4
1994 3
1995 3
1996 2
1997 4
1998 13
1999 10
2000 8
2001 6
2002 8
2003 10
2004 9
2005 7
2006 17
2007 14
2008 25
2009 26
2010 25
2011 32
2012 45
2013 54
2014 44
2015 47
2016 36
2017 23
2018 46
2019 46
2020 36
2021 44
2022 37
2023 28
2024 10

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620 results

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Page 1
Marfan syndrome.
Milewicz DM, Braverman AC, De Backer J, Morris SA, Boileau C, Maumenee IH, Jondeau G, Evangelista A, Pyeritz RE. Milewicz DM, et al. Among authors: jondeau g, de backer j. Nat Rev Dis Primers. 2021 Sep 2;7(1):64. doi: 10.1038/s41572-021-00298-7. Nat Rev Dis Primers. 2021. PMID: 34475413 Free PMC article. Review.
Marfan syndrome (MFS) is an autosomal dominant, age-related but highly penetrant condition with substantial intrafamilial and interfamilial variability. ...
Marfan syndrome (MFS) is an autosomal dominant, age-related but highly penetrant condition with substantial intrafamilial and interfa …
Loeys-Dietz Syndrome.
Velchev JD, Van Laer L, Luyckx I, Dietz H, Loeys B. Velchev JD, et al. Among authors: loeys b. Adv Exp Med Biol. 2021;1348:251-264. doi: 10.1007/978-3-030-80614-9_11. Adv Exp Med Biol. 2021. PMID: 34807423
Acute aortic dissection.
Carrel T, Sundt TM 3rd, von Kodolitsch Y, Czerny M. Carrel T, et al. Among authors: von kodolitsch y. Lancet. 2023 Mar 4;401(10378):773-788. doi: 10.1016/S0140-6736(22)01970-5. Epub 2023 Jan 11. Lancet. 2023. PMID: 36640801 Review.
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: jondeau g, de backer j. J Med Genet. 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785. J Med Genet. 2010. PMID: 20591885
The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology), outlined by international expert opinion to facilitate accurate recognition of this genetic aneurysm syndrome and to improve patient management and counselling. ...
The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology), outlined by international expert opinion …
Loeys-Dietz syndrome: a primer for diagnosis and management.
MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC 3rd. MacCarrick G, et al. Among authors: loeys b. Genet Med. 2014 Aug;16(8):576-87. doi: 10.1038/gim.2014.11. Epub 2014 Feb 27. Genet Med. 2014. PMID: 24577266 Free PMC article. Review.
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
Sakai LY, Keene DR, Renard M, De Backer J. Sakai LY, et al. Among authors: de backer j. Gene. 2016 Oct 10;591(1):279-291. doi: 10.1016/j.gene.2016.07.033. Epub 2016 Jul 18. Gene. 2016. PMID: 27437668 Free PMC article. Review.
Fibrillin microfibrils are morphologically distinctive fibrils, present in all connective tissues and assembled into tissue-specific architectural frameworks. FBN1 is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features in …
Fibrillin microfibrils are morphologically distinctive fibrils, present in all connective tissues and assembled into tissue-specific archite …
Meester-Loeys Syndrome.
Meester JAN, De Kinderen P, Verstraeten A, Loeys B. Meester JAN, et al. Among authors: loeys b. Adv Exp Med Biol. 2021;1348:265-272. doi: 10.1007/978-3-030-80614-9_12. Adv Exp Med Biol. 2021. PMID: 34807424
More specifically, the cardiovascular, skeletal, craniofacial, cutaneous and neurological systems are affected. Clear clinical overlap with Marfan syndrome and Loeys-Dietz syndrome is observed. Aortic dissections occur typically at young ages and are most often observed in …
More specifically, the cardiovascular, skeletal, craniofacial, cutaneous and neurological systems are affected. Clear clinical overlap with …
Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.
Groth KA, Von Kodolitsch Y, Kutsche K, Gaustadnes M, Thorsen K, Andersen NH, Gravholt CH. Groth KA, et al. Among authors: von kodolitsch y. Genet Med. 2017 Jul;19(7):772-777. doi: 10.1038/gim.2016.181. Epub 2016 Dec 1. Genet Med. 2017. PMID: 27906200 Free article.
The Marfan score calculated for phenotype data from the records quantified variant associations with Marfan syndrome phenotype. We calculated a Marfan score for 1,283 variants, of which we confirmed the database diagnosis of Marfan syndrome in 77.1%. . …
The Marfan score calculated for phenotype data from the records quantified variant associations with Marfan syndrome phenotype …
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: de backer jf. N Engl J Med. 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695. N Engl J Med. 2006. PMID: 16928994 Free article.
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Schepers D, Tortora G, Morisaki H, MacCarrick G, Lindsay M, Liang D, Mehta SG, Hague J, Verhagen J, van de Laar I, Wessels M, Detisch Y, van Haelst M, Baas A, Lichtenbelt K, Braun K, van der Linde D, Roos-Hesselink J, McGillivray G, Meester J, Maystadt I, Coucke P, El-Khoury E, Parkash S, Diness B, Risom L, Scurr I, Hilhorst-Hofstee Y, Morisaki T, Richer J, Désir J, Kempers M, Rideout AL, Horne G, Bennett C, Rahikkala E, Vandeweyer G, Alaerts M, Verstraeten A, Dietz H, Van Laer L, Loeys B. Schepers D, et al. Among authors: van de laar i, loeys b, kempers m. Hum Mutat. 2018 May;39(5):621-634. doi: 10.1002/humu.23407. Epub 2018 Mar 6. Hum Mutat. 2018. PMID: 29392890 Free PMC article.
620 results