Human Genome Epidemiology Literature Finder
Records 1 - 24 (of 24 Records) |
Query Trace: Syndrome and TGFBR1[original query] |
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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 |
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 |
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 |
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 |
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar . Weerakkody Ruwan A, Vandrovcova Jana, Kanonidou Christina, Mueller Michael, Gampawar Piyush, Ibrahim Yousef, Norsworthy Penny, Biggs Jennifer, Abdullah Abdulshakur, Ross David, Black Holly A, Ferguson David, Cheshire Nicholas J, Kazkaz Hanadi, Grahame Rodney, Ghali Neeti, Vandersteen Anthony, Pope F Michael, Aitman Timothy |
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 |
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 |
Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant. American journal of medical genetics. Part A 2018 12 176 (12): 2892-2895. Sirisomboonwong Korawan E, Martindale Joanne, Keefe Martin, Goudie David, Poke Gem |
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 |
Targeted next?generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate. Molecular medicine reports 2019 Mar . Bu Haisong, Liu Lin, Hu Shijun, Tan Zhiping, Zhao Tian |
Activation of TGF-? signaling in an aortic aneurysm in a patient with Loeys-Dietz syndrome caused by a novel loss-of-function variant of TGFBR1. Human genome variation 2019 2 6 6. Hara Hironori, Takeda Norifumi, Fujiwara Takayuki, Yagi Hiroki, Maemura Sonoko, Kanaya Tsubasa, Nawata Kan, Morita Hiroyuki, 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 |
[Echocardiographic manifestation and analysis of TGFBR1 gene variant in a Chinese patient with Loeys-Dietz syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 11 38 (12): 1220-1223. Wang Yueli, Niu Baorong, Li Rongjuan, Xie Jinjie, Li Xiaoy |
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 |
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 |
Coexistence of Multiple self-healing squamous epithelioma and features of Loeys-Dietz syndrome caused by a pathogenic missense variant in the kinase domain of TGFBR1 gene. Clinical and experimental dermatology 2023 12 . Schaida Schirwani, Bea Suarez, Matthew Sommerlad, Emma Corden, Geeta Belgi, Diana Eccles, Adam Fity |
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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