Human Genome Epidemiology Literature Finder
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Records 1 - 14 (of 14 Records) |
| Query Trace: Marfan Syndrome and TGFBR2[original query] |
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| Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation? European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery 2007 Jun 31 (6): 970-5. Waldmüller Stephan, Müller Melanie, Warnecke Henning, Rees Wolfgang, Schöls Wolfgang, Walterbusch Gerhard, Ennker Jürgen, Scheffold Thom |
| May TGFBR1 act also as low penetrance allele in Marfan syndrome? International journal of cardiology 2009 Jan 131 (2): 281-4. Lucarini Laura, Evangelisti Lucia, Attanasio Monica, Lapini Ilaria, Chiarini Francesca, Porciani Maria Cristina, Abbate Rosanna, Gensini GianFranco, Pepe Guglielmi |
| 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. Human mutation 2008 Nov 29 (11): E284-95. Stheneur Chantal, Collod-Béroud Gwenaëlle, Faivre Laurence, Gouya Laurent, Sultan Gilles, Le Parc Jean-Marie, Moura Bertrand, Attias David, Muti Christine, Sznajder Marc, Claustres Mireille, Junien Claudine, Baumann Clarisse, Cormier-Daire Valérie, Rio Marlène, Lyonnet Stanislas, Plauchu Henri, Lacombe Didier, Chevallier Bertrand, Jondeau Guillaume, Boileau Catheri |
| Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). Human mutation 2009 Oct 30 (10): 1406-11. Morisaki Hiroko, Akutsu Koichi, Ogino Hitoshi, Kondo Norihiro, Yamanaka Itaru, Tsutsumi Yoshiaki, Yoshimuta Tsuyoshi, Okajima Toshiya, Matsuda Hitoshi, Minatoya Kenji, Sasaki Hiroaki, Tanaka Hiroshi, Ishibashi-Ueda Hatsue, Morisaki Takayu |
| Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. American journal of medical genetics. Part A 2009 Jul 149A (7): 7. Chung BH, Lam ST, Tong TM, Li SY, Lun KS, Chan DH, Fok SF, Or JS, Smith DK, Yang W, Lau YL |
| TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome. Journal of negative results in biomedicine 2012 11 (1): 9. Singh Krishna K, Schmidtke Joerg, Keyser Britta, Arslan-Kirchner Mi |
| Transforming growth factor beta receptor II polymorphisms are associated with Kawasaki disease. Korean journal of pediatrics 2012 Jan 55 (1): 18-23. Choi Yu Mi, Shim Kye Sik, Yoon Kyung Lim, Han Mi Young, Cha Sung Ho, Kim Su Kang, Jung Joo |
| Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome. American journal of medical genetics. Part A 2016 Apr . Somers Allyson E, Hinton Robert B, Pilipenko Valentina, Miller Erin, Ware Stephanie |
| Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis. Frontiers in physiology 2017 8 612. Giusti Betti, Sticchi Elena, De Cario Rosina, Magi Alberto, Nistri Stefano, Pepe Guglielmi |
| Role of TGFBR1 and TGFBR2 genetic variants in Marfan syndrome. Journal of vascular surgery 2017 Aug . De Cario Rosina, Sticchi Elena, Lucarini Laura, Attanasio Monica, Nistri Stefano, Marcucci Rossella, Pepe Guglielmina, Giusti Bet |
| Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease. Science China. Life sciences 2019 5 62 (12): 1630-1637. Li Jiacheng, Lu Chaoxia, Wu Wei, Liu Yaping, Wang Rongrong, Si Nuo, Meng Xiaolu, Zhang Shuyang, Zhang X |
| Genetic basis of hereditary thoracic aortic aneurysms and dissections. Journal of cardiology 2019 4 74 (2): 136-143. Takeda Norifumi, Komuro Iss |
| Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement. Orphanet journal of rare diseases 2020 Oct 15 (1): 290. Stengl Roland, Bors András, Ágg Bence, Pólos Miklós, Matyas Gabor, Molnár Mária Judit, Fekete Bálint, Csabán Dóra, Andrikovics Hajnalka, Merkely Béla, Radovits Tamás, Szabolcs Zoltán, Benke Kálm |
| Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility. American journal of medical genetics. Part A 2022 Jan . Murad Andrea M, Hill Hannah L, Wang Yu, Ghannam Michael, Yang Min-Lee, Pugh Norma L, Asch Federico M, Hornsby Whitney, Driscoll Anisa, McNamara Jennifer, Willer Cristen J, Regalado Ellen S, , , Milewicz Dianna M, Eagle Kim A, Ganesh Santhi |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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