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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 10 (of 10 Records)

Query Trace: Marfan Syndrome and TGFBR1[original query]
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
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
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
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
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
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
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
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