Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

441 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
DUP25 remains unconfirmed.
Vermeulen SJ, Menten B, De Bie S, Coucke P, Malfait F, De Backer J, Speleman F, De Paepe A, Loeys B. Vermeulen SJ, et al. Among authors: de paepe a, de backer j, de bie s. Am J Med Genet A. 2004 Dec 15;131(3):320-1. doi: 10.1002/ajmg.a.30343. Am J Med Genet A. 2004. PMID: 15386472 No abstract available.
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, De Paepe AM, Dietz HC. Loeys BL, et al. Among authors: de backer j, de paepe am. Nat Genet. 2005 Mar;37(3):275-81. doi: 10.1038/ng1511. Epub 2005 Jan 30. Nat Genet. 2005. PMID: 15731757 Free article.
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A. Coucke PJ, et al. Among authors: de paepe a, de backer j. Nat Genet. 2006 Apr;38(4):452-7. doi: 10.1038/ng1764. Epub 2006 Mar 19. Nat Genet. 2006. PMID: 16550171 Free article.
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, de paepe am. 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: de paepe a, de backer j. 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: de paepe a, de backer j. 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.
441 results