Human Genome Epidemiology Literature Finder
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Records 1 - 18 (of 18 Records) |
| Query Trace: Loeys-Dietz Syndrome and TGFBR2[original query] |
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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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients. Orphanet journal of rare diseases 2020 1 15 (1): 6. Yang Hang, Ma Yanyun, Luo Mingyao, Zhu Guoyan, Zhang Yinhui, Li Binbin, Shu Chang, Zhou Zh |
| Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-?-opathies with craniofacial manifestations using an innovative multimodality method. Journal of medical genetics 2021 12 59 (10): 938-946. Almpani Konstantinia, Liberton Denise K, Jani Priyam, Keyvanfar Cyrus, Mishra Rashmi, Curry Natasha, Orzechowski Pamela, Frischmeyer-Guerrerio Pamela A, Lee Janice |
| Surgical Outcome and Histological Differences between Individuals with TGFBR1 and TGFBR2 Mutations in Loeys-Dietz Syndrome. Annals of thoracic and cardiovascular surgery : official journal of the Association of Thoracic and Cardiovascular Surgeons of Asia 2021 1 27 (1): 56-63. Seike Yoshimasa, Matsuda Hitoshi, Ishibashi-Ueda Hatsue, Morisaki Hiroko, Morisaki Takayuki, Minatoya Kenji, Ogino Hitos |
| Burden of Rare Genetic Variants in Spontaneous Coronary Artery Dissection With High-risk Features. JAMA cardiology 2022 9 7 (10): 1045-1055. Wang Yu, Starovoytov Andrew, Murad Andrea M, Hunker Kristina L, Brunham Liam R, Li Jun Z, Saw Jacqueline, Ganesh Santhi |
| Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease. Journal of the American College of Cardiology 2022 Aug 80 (9): 857-869. Regalado Ellen S, Morris Shaine A, Braverman Alan C, Hostetler Ellen M, De Backer Julie, Li Ruosha, Pyeritz Reed E, Yetman Anji T, Cervi Elena, Shalhub Sherene, Jeremy Richmond, LeMaire Scott, Ouzounian Maral, Evangelista Arturo, Boileau Catherine, Jondeau Guillaume, Milewicz Dianna |
| 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 |
| [Clinical and genetic characteristics of 12 cases of Loeys-Dietz syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 8 40 (9): 1093-1099. Jiaqi Fan, Hairui Sun, Xin Wang, Yuduo Wu, Siyao Zhang, Xiaoyan Hao, Jiancheng Han, Xiaoyan Gu, Ye Zhang, Lin Sun, Yihua |
| [Clinical and genetic analysis of a patient with Loeys-Dietz syndrome due to variant of TGFBR2 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 11 40 (12): 1531-1535. Yueli Wang, Zhihua Kong, Long Wan, Aoxue Wang, Xiaoyan |
| Impact of Genotype-Phenotype Interactions on Cardiovascular Function in Paediatric Loeys-Dietz Syndrome. CJC pediatric and congenital heart disease 2024 5 3 (2): 47-54. Nairy Khodabakhshian, Alison J Howell, Pablo Perez Lopez, Wei Hui, Luc L Mertens, Vitor C Guer |
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