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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2006 | 3 |
2008 | 1 |
2011 | 1 |
2012 | 1 |
2014 | 1 |
2024 | 0 |
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7 results
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FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.
Am J Med Genet A. 2006 May 15;140(10):1047-58. doi: 10.1002/ajmg.a.31202.
Am J Med Genet A. 2006.
PMID: 16596670
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
Mátyás G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berger W, Steinmann B.
Mátyás G, et al.
Hum Mutat. 2006 Aug;27(8):760-9. doi: 10.1002/humu.20353.
Hum Mutat. 2006.
PMID: 16791849
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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.
N Engl J Med. 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695.
N Engl J Med. 2006.
PMID: 16928994
Free article.
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Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
Stheneur C, Collod-Béroud G, Faivre L, Gouya L, Sultan G, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Jondeau G, Boileau C.
Stheneur C, et al.
Hum Mutat. 2008 Nov;29(11):E284-95. doi: 10.1002/humu.20871.
Hum Mutat. 2008.
PMID: 18781618
Free article.
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Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?
Barnett CP, Chitayat D, Bradley TJ, Wang Y, Hinek A.
Barnett CP, et al.
Eur J Hum Genet. 2011 Jun;19(6):624-33. doi: 10.1038/ejhg.2010.259. Epub 2011 Jan 26.
Eur J Hum Genet. 2011.
PMID: 21267002
Free PMC article.
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TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.
Cardoso S, Robertson SP, Daniel PB.
Cardoso S, et al.
J Recept Signal Transduct Res. 2012 Jun;32(3):150-5. doi: 10.3109/10799893.2012.664553. Epub 2012 Mar 14.
J Recept Signal Transduct Res. 2012.
PMID: 22414221
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Postoperative mitral leaflet rupture in an infant with Loeys-Dietz syndrome.
Nishida K, Tamura S, Yamazaki S, Sugita R, Yamagishi M, Noriki S, Morisaki H.
Nishida K, et al.
Pediatr Int. 2014 Dec;56(6):e82-e85. doi: 10.1111/ped.12430.
Pediatr Int. 2014.
PMID: 25521989
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