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Year | Number of Results |
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2006 | 2 |
2007 | 1 |
2009 | 1 |
2016 | 1 |
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Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain.
J Biol Chem. 2006 Oct 20;281(42):31854-62. doi: 10.1074/jbc.M602743200. Epub 2006 Aug 10.
J Biol Chem. 2006.
PMID: 16905551
Free article.
Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites.
Ono RN, Sengle G, Charbonneau NL, Carlberg V, Bächinger HP, Sasaki T, Lee-Arteaga S, Zilberberg L, Rifkin DB, Ramirez F, Chu ML, Sakai LY.
Ono RN, et al.
J Biol Chem. 2009 Jun 19;284(25):16872-16881. doi: 10.1074/jbc.M809348200. Epub 2009 Apr 6.
J Biol Chem. 2009.
PMID: 19349279
Free PMC article.
Item in Clipboard
The molecular genetics of Marfan syndrome and related disorders.
Robinson PN, Arteaga-Solis E, Baldock C, Collod-Béroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M.
Robinson PN, et al.
J Med Genet. 2006 Oct;43(10):769-87. doi: 10.1136/jmg.2005.039669. Epub 2006 Mar 29.
J Med Genet. 2006.
PMID: 16571647
Free PMC article.
Review.
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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.
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.
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Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.
Zhurayev R, Proost D, Zerbino D, Fedorenko V, Meester JA, VAN Laer L, Loeys BL.
Zhurayev R, et al.
Genet Res (Camb). 2016 Oct 11;98:e13. doi: 10.1017/S0016672316000112.
Genet Res (Camb). 2016.
PMID: 27724990
Free PMC article.
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