Human Genome Epidemiology Literature Finder
Primary Immune Deficiency Diseases
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Query Trace: Loeys-dietz Syndrome[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 |
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 |
Spontaneous Bilateral Cervical Internal Carotid and Vertebral Artery Dissection in a Japanese Patient without Collagen Vascular Disease with Special Reference to Single-Nucleotide Polymorphisms. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2016 May . Abe Arata, Nito Chikako, Sakamoto Yuki, Nogami Akane, Hokama Hiroyuki, Takahashi Shiro, Kirita Kumiko, Ueda Masayuki, Ishimaru Yoshiro, Kimura Kazu |
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 testing of 10 patients with features of Loeys-Dietz syndrome. Clinica chimica acta; international journal of clinical chemistry 2016 Feb . Luo Mingyao, Yang Hang, Yin Kunlun, Chen Qianlong, Zhang Jing, Fan Yuxin, Zhou Zhou, Chang Qi |
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 |
High prevalence of ventricular repolarization abnormalities in people carrying TGF?R2 mutations. Scientific reports 2018 8 8 (1): 13019. Extramiana F, Milleron O, Elbitar S, Uccellini A, Langeois M, Spentchian M, Delorme G, Arnoult F, Denjoy I, Bouleti C, Fressart V, Iserin F, Maison-Blanche P, Abifadel M, Leenhardt A, Boileau C, Jondeau |
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 |
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 |
Corneal thinning and cornea guttata in patients with mutations in TGFB2. Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2020 4 55 (4): 336-341. Eghrari Allen O, Rasooly Marjohn M, Fliotsos Michael J, Kinard Jessica, Odozor Obinna, Cunningham Denise, Bishop Rachel J, Guerrerio Anthony L, Frischmeyer-Guerrerio Pamela |
Oxidant/Antioxidant Profile in the Thoracic Aneurysm of Patients with the Loeys-Dietz Syndrome. Oxidative medicine and cellular longevity 2020 4 2020 5392454. Soto Maria Elena, Manzano-Pech Lináloe G, Guarner-Lans Verónica, Díaz-Galindo Jorge A, Vásquez Xicoténcatl, Castrejón-Tellez Vicente, Gamboa Ricardo, Huesca Claudia, Fuentevilla-Alvárez Giovanny, Pérez-Torres Isra |
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 |
Connective tissue disease type mediates branch patency of grafts in open thoracoabdominal aortic reconstruction. Journal of vascular surgery 2021 6 75 (1): 90-98. Sorber Rebecca, Bowen Caitlin J, Hicks Caitlin W, Black James |
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 |
[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 |
Recurrent Coronary Artery Fistulae and a Novel Transforming Growth Factor Beta-3 Mutation. Cureus 2021 10 13 (9): e17780. Abdelhadi Naser, Zghouzi Mohamed, Sattar Yasar, Jokhadar Maan, Alraies M Cha |
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 |
Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Nature medicine 2023 3 29 (3): 679-688. Greene Daniel, , Pirri Daniela, Frudd Karen, Sackey Ege, Al-Owain Mohammed, Giese Arnaud P J, Ramzan Khushnooda, Riaz Sehar, Yamanaka Itaru, Boeckx Nele, Thys Chantal, Gelb Bruce D, Brennan Paul, Hartill Verity, Harvengt Julie, Kosho Tomoki, Mansour Sahar, Masuno Mitsuo, Ohata Takako, Stewart Helen, Taibah Khalid, Turner Claire L S, Imtiaz Faiqa, Riazuddin Saima, Morisaki Takayuki, Ostergaard Pia, Loeys Bart L, Morisaki Hiroko, Ahmed Zubair M, Birdsey Graeme M, Freson Kathleen, Mumford Andrew, Turro Erne |
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 |
[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 |
Markers of extracellular matrix remodeling and systemic inflammation in patients with heritable thoracic aortic diseases. Frontiers in cardiovascular medicine 2023 1 9 1073069. Seim Bjørn Edvard, Holt Margrethe Flesvig, Ratajska Aleksandra, Michelsen Annika, Ringseth Monica Myklebust, Halvorsen Bente Evy, Skjelland Mona, Kvitting John-Peder Escobar, Lundblad Runar, Krohg-Sørensen Kirsten, Osnes Liv T N, Aukrust Pål, Paus Benedicte, Ueland Th |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
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