HuGE Literature Finder
Records 1-17
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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 |
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EGFR, SMAD7, and TGFBR2 Polymorphisms Are Associated with Colorectal Cancer in Patients with Lynch Syndrome.
Anticancer research 2018 Oct 38 (10): 5983-5990. Kamiza Abram Bunya, Wang Wen-Chang, You Jeng-Fu, Tang Reiping, Wang Yen-Ting, Chien Huei-Tzu, Lai Chih-Hsiung, Chiu Li-Ling, Lo Tsai-Ping, Hung Kuan-Yi, Hsiung Chao Agnes, Yeh Chih-Chi |
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Transforming growth factor-ß signaling pathway-associated genes SMAD2 and TGFBR2 are implicated in metabolic syndrome in a Taiwanese population.
Scientific reports 2017 Oct 7 (1): 13589. Lin Eugene, Kuo Po-Hsiu, Liu Yu-Li, Yang Albert C, Tsai Shih-J |
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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 |
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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 |
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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 |
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Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation.
British journal of cancer 2015 Aug 113 (4): 686-92. Pinheiro Manuela, Pinto Carla, Peixoto Ana, Veiga Isabel, Lopes Paula, Henrique Rui, Baldaia Helena, Carneiro Fátima, Seruca Raquel, Tomlinson Ian, Kovac Michal, Heinimann Karl, Teixeira Manuel |
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TGFBR2 gene polymorphism is associated with ossification of the posterior longitudinal ligament.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2013 Mar 20 (3): 453-6. Jekarl Dong Wook, Paek Cheol-Min, An Yeon Ju, Kim Yun Jin, Kim Myungshin, Kim Yonggoo, Lee Jehoon, Sung Choon |
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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 |
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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 |
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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 |
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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 |
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Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.
Journal of medical genetics 2009 Jun . Tran-Fadulu VT, Pannu H, Kim DH, Vick GW, Lonsford CM, Lafont AL, Boccalandro C, Smart S, Peterson KL, Zenger-Hain J, Willing MC, Coselli J, Lemaire SA, Ahn C, Byers PH, Milewicz DM |
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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 |
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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.
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 |
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Absence of TGFBR1 and TGFBR2 mutations in patients with bicuspid aortic valve and aortic dilation.
The American journal of cardiology 2008 Sep 102 (5): 629-31. Arrington Cammon B, Sower C Todd, Chuckwuk Naomi, Stevens Jeff, Leppert Mark F, Yetman Anji T, Bowles Neil |
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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 |
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- Page last updated:Sep 22, 2021
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