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Records 1-7

Query Trace: Loeys-Dietz Syndrome and TGFBR2[original query]

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 Similar articles in PubMed
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 Similar articles in PubMed
Analysis of TFGBR1*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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed

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