HuGE Literature Finder
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| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Gene mapping and molecular analysis of hereditarynon-polyposis colorectal cancer (Lynch Syndrome)using systems biological approaches. Bioinformation 2019 7 15 (4): 269-276. Rasool Mahmood, Karim Sajjad, Naseer Muhammad Imran, Pushparaj Peter Natesan, Abuzenadah Adel, Al-Qahtani Mohammed Husse |
| Genetic basis of hereditary thoracic aortic aneurysms and dissections. Journal of cardiology 2019 4 74 (2): 136-143. Takeda Norifumi, Komuro Iss |
| 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 |
| Transforming growth factor-? 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 |
| 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 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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:Mar 28, 2023
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