Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: Abnormalities and FBN1[original query] |
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Association between fibrillin-1 gene exon 15 and 27 polymorphisms and risk of mitral valve prolapse. The Journal of heart valve disease 2003 Jul 12 (4): 475-81. Chou Hsiang-Tai, Shi Yi-Ru, Hsu Yuan, Tsai Fuu-J |
Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation. Clinical genetics 2010 Feb 77 (2): 177-82. Yoo E-H, Woo H, Ki C-S, Lee H J, Kim D-K, Kang I-S, Park P, Sung K, Lee C S, Chung T-Y, Moon J R, Han H, Lee S-T, Kim J |
Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome. Gene 2014 Jan 534 (1): 40-3. Aalberts Jan J J, van Tintelen J Peter, Meijboom Lilian J, Polko Annette, Jongbloed Jan D H, van der Wal Henriette, Pals Gerard, Osinga Jan, Timmermans Janneke, de Backer Julie, Bakker Marian K, van Veldhuisen Dirk J, Hofstra Robert M W, Mulder Barbara J M, van den Berg Maarten |
A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing. Journal of human genetics 2015 Sep . Zhang Huiwen, Yang Rui, Wang Yu, Ye Jun, Han Lianshu, Qiu Wenjuan, Gu Xuef |
Marfan syndrome: ocular findings and novel mutations-in pursuit of genotype-phenotype associations. Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2016 Apr 51 (2): 113-8. Latasiewicz Marta, Fontecilla Christian, Millá Elena, Sánchez Auro |
Genetic investigation of patients with tall stature. European journal of endocrinology 2019 Nov . Vasco de Albuquerque Albuquerque Edoarda, Ferreira de Assis Funari Mariana, Pereira de Souza Quedas Elisângela, Sayuri Honjo Kawahira Rachel, Soares Jallad Raquel, Homma Thaís Kataoka, Martin Regina Matsunaga, Brito Vinicius Nahime, Malaquias Alexsandra Christianne, Lerario Antonio Marcondes, Rosenberg Carla, Victorino Krepischi Ana Cristina, Ae Kim Chong, Arnhold Ivo Jorge Prado, Jorge Alexander Augusto de Li |
Next-generation sequencing panel analysis in 24 Chinese patients with congenital ectopia lentis. International ophthalmology 2022 5 42 (7): 2245-2253. Qi Meng, Wang Chong, Liu Yi, Shi Xiangyu, Rong WeiNi |
Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH. Frontiers in endocrinology 2022 3 13 820001. Chen Meiping, Miao Hui, Liang Hanting, Ke Xiaoan, Yang Hongbo, Gong Fengying, Wang Linjie, Duan Lian, Chen Shi, Pan Hui, Zhu Huiju |
Ocular, cardiovascular, and genetic characteristics and their associations in children with Marfan syndrome and related fibrillinopathies. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2023 7 . Dongwei Guo, Liyan Liu, Kit Yee Ng, Qianzhong Cao, Danying Zheng, Xinyu Zhang, Guangming J |
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- Page last updated:Apr 22, 2024
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