Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2005 | 1 |
2006 | 1 |
2012 | 1 |
2013 | 1 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Page 1
Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome.
Clin Genet. 2005 Dec;68(6):561-3. doi: 10.1111/j.1399-0004.2005.00535.x.
Clin Genet. 2005.
PMID: 16283890
No abstract available.
Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report.
Uike K, Matsushita Y, Sakai Y, Togao O, Nagao M, Ishizaki Y, Nagata H, Yamamura K, Torisu H, Hara T.
Uike K, et al.
BMC Res Notes. 2013 Nov 12;6:456. doi: 10.1186/1756-0500-6-456.
BMC Res Notes. 2013.
PMID: 24220024
Free PMC article.
Item in Clipboard
Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations.
Ben Amor IM, Edouard T, Glorieux FH, Chabot G, Tischkowitz M, Roschger P, Klaushofer K, Rauch F.
Ben Amor IM, et al.
J Bone Miner Res. 2012 Mar;27(3):713-8. doi: 10.1002/jbmr.1470.
J Bone Miner Res. 2012.
PMID: 22095581
Free article.
Item in Clipboard
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.
Sakai H, Visser R, Ikegawa S, Ito E, Numabe H, Watanabe Y, Mikami H, Kondoh T, Kitoh H, Sugiyama R, Okamoto N, Ogata T, Fodde R, Mizuno S, Takamura K, Egashira M, Sasaki N, Watanabe S, Nishimaki S, Takada F, Nagai T, Okada Y, Aoka Y, Yasuda K, Iwasa M, Kogaki S, Harada N, Mizuguchi T, Matsumoto N.
Sakai H, et al.
Am J Med Genet A. 2006 Aug 15;140(16):1719-25. doi: 10.1002/ajmg.a.31353.
Am J Med Genet A. 2006.
PMID: 16835936
Item in Clipboard
Cite
Cite