Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 155 Records) |
Query Trace: FBN1[original query] |
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Aberrant interaction between mutated ADAMTSL2 and LTBP4 is associated with adolescent idiopathic scoliosis. Gene 2021 12 814 146126. Liu Bowen, Zhao Sen, Liu Lian, Du Huakang, Zhao Hengqiang, Wang Shengru, Niu Yuchen, Li Xiaoxin, Qiu Guixing, , Wu Zhihong, Zhang Terry Jianguo, Wu N |
Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations. Frontiers in molecular biosciences 2021 12 8 749842. Chen Songchang, Fei Hongjun, Zhang Junyun, Chen Yiyao, Huang Hefeng, Lu Daru, Xu Chenmi |
A systematic study of mosaicism in heritable thoracic aortic aneurysm and dissection. Genomics 2021 12 114 (1): 196-201. Yang Hang, Zhu Guoyan, Zhou Weizhen, Luo Mingyao, Zhang Yujing, Zhang Yinhui, Shu Chang, Zhou Zh |
Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome. Journal of medical genetics 2021 12 60 (1): 74-80. Taniguchi Yuki, Takeda Norifumi, Inuzuka Ryo, Matsubayashi Yoshitaka, Kato So, Doi Toru, Yagi Hiroki, Yamauchi Haruo, Ando Masahiko, Oshima Yasushi, Tanaka Sak |
[Analysis of FBN1 genemutations in a pedigree with Marfan syndrome]. Zhonghua yi xue za zhi 2022 9 102 (34): 2702-2706. Zheng Q, Li K L, Dai G L, Xiong D, Yao M Y, Chen X, Li Y M, Zhang Y Y, Li H R, Cao |
Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control study. BMC musculoskeletal disorders 2022 May 23 (1): 430. de Azevedo Gustavo Borges Laurindo, Perini Jamila Alessandra, Araújo Junior Antônio Eulálio Pedrosa, Moliterno Luis Antonio Medeiros, Andrande Rodrigo Mantelatto, Guimarães João Antonio Matheus, Defino Helton Luiz Apareci |
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 |
Fibrillin-1 Gene Polymorphisms (rs145233125, rs11070646, rs201170905) Are Associated With the Susceptibility and Clinical Prognosis of DeBakey Type III Aortic Dissection in Chinese Han Population. Journal of cardiovascular pharmacology 2022 Apr . Sun Ling, Chang Yafei, Jiang Peipei, Wang Baozhu, Ma Yitong, Yuan Qinghua, Ma Xia |
Association of Circulating Cathepsin B Levels With Blood Pressure and Aortic Dilation. Frontiers in cardiovascular medicine 2022 4 9 762468. Chai Tianci, Tian Mengyue, Yang Xiaojie, Qiu Zhihuang, Lin Xinjian, Chen Liangw |
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 |
Cysteine Substitution and Calcium-Binding Mutations in FBN1 cbEGF-Like Domains Are Associated With Severe Ocular Involvement in Patients With Congenital Ectopia Lentis. Frontiers in cell and developmental biology 2022 3 9 816397. Zhang Min, Chen Zexu, Chen Tianhui, Sun Xiaodong, Jiang Yongxia |
Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate: A Whole Genome Sequencing Study. Frontiers in genetics 2022 3 13 828534. Lace Baiba, Pajusalu Sander, Livcane Diana, Grinfelde Ieva, Akota Ilze, Mauli?a Ieva, Bark?ne Biruta, Stavusis Janis, Inashkina In |
Rare Variants and Polymorphisms of FBN1 Gene May Increase the Risk of Non-Syndromic Aortic Dissection. Frontiers in genetics 2022 2 13 778806. Pan Meichen, Li Lianjie, Li Zehao, Chen Shu, Li Zongzhe, Wang Yuning, He Henghui, Lin Lihua, Wang Haihao, Liu Qi |
Prevalence of Mutations in Mendelian Stroke Genes in Early Onset Stroke Patients. Annals of neurology 2022 12 . Park Hong-Kyun, Lee Keon-Joo, Park Jong-Moo, Kang Kyusik, Lee Soo Joo, Kim Jae Guk, Cha Jae-Kwan, Kim Dae-Hyun, Han Moon-Ku, Kang Jihoon, Kim Beom Joon, Park Tai Hwan, Park Moo-Seok, Lee Kyung Bok, Lee Jun, Hong Keun-Sik, Cho Yong-Jin, Lee Byung-Chul, Yu Kyung-Ho, Oh Mi Sun, Kim Joon-Tae, Choi Kang-Ho, Kim Dong-Eog, Ryu Wi-Sun, Choi Jay Chol, Kwon Jee-Hyun, Kim Wook-Joo, Shin Dong-Ick, Sohn Sung Il, Hong Jeong-Ho, Lee Juneyoung, Lee Kyunghoon, Song Junghan, Bae Joon Seol, Cheong Hyun Sub, Debette Stéphanie, Bae Hee-Jo |
Molecular characterization and clinical investigation of patients with heritable thoracic aortic aneurysm and dissection. The Journal of thoracic and cardiovascular surgery 2022 12 . Yang Hang, Shen Huayan, Zhu Guoyan, Shao Xinyang, Chen Qianlong, Yang Fangfang, Zhang Yinhui, Zhang Yujing, Zhao Kun, Luo Mingyao, Zhou Zhou, Shu Cha |
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships. American journal of medical genetics. Part A 2022 11 191 (2): 479-489. Lauffer Peter, Pals Gerard, Zwinderman Aeilko H, Postema Floor A M, Baars Marieke J H, Dulfer Eelco, Hilhorst-Hofstee Yvonne, Houweling Arjan C, Kempers Marlies, Krapels Ingrid P C, van de Laar Ingrid M B H, Loeys Bart, Spaans Alexander M J, Warnink-Kavelaars Jessica, de Waard Vivian, Wit Jan M, Menke Leonie |
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 |
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort. Genetics in medicine : official journal of the American College of Medical Genetics 2022 1 24 (5): 1045-1053. Meester Josephina A N, Peeters Silke, Van Den Heuvel Lotte, Vandeweyer Geert, Fransen Erik, Cappella Elizabeth, Dietz Harry C, Forbus Geoffrey, Gelb Bruce D, Goldmuntz Elizabeth, Hoskoppal Arvind, Landstrom Andrew P, Lee Teresa, Mital Seema, Morris Shaine, Olson Aaron K, Renard Marjolijn, Roden Dan M, Singh Michael N, Selamet Tierney Elif Seda, Tretter Justin T, Van Driest Sara L, Willing Marcia, Verstraeten Aline, Van Laer Lut, Lacro Ronald V, Loeys Bart |
High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease.
Nature genetics 2022 6 54 (6): 772-782. Tcheandjieu Catherine, Xiao Ke, Tejeda Helio, Lynch Julie A, Ruotsalainen Sanni, Bellomo Tiffany, Palnati Madhuri, Judy Renae, Klarin Derek, Kember Rachel L, Verma Shefali, , , , Palotie Aarno, Daly Mark, Ritchie Marylyn, Rader Daniel J, Rivas Manuel A, Assimes Themistocles, Tsao Philip, Damrauer Scott, Priest James |
Genetic architecture of thoracic aortic dissection in the female population. Gene 2023 8 887 147727. Yanghui Chen, Linlin Wang, Xin Xu, Ke Li, Yang Sun, Yan Wang, Dao Wen Wa |
Clinical and genetic evaluation of children with short stature of unknown origin. BMC medical genomics 2023 8 16 (1): 194. Qianqian Zhao, Yanying Li, Qian Shao, Chuanpeng Zhang, Shuang Kou, Wanling Yang, Mei Zhang, Bo B |
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 |
Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age. Journal of clinical medicine 2023 4 12 (8): . Jean Sénémaud, Marine Gaudry, Elisabeth Jouve, Arnaud Blanchard, Olivier Milleron, Yves Dulac, Laurence Olivier-Faivre, Dominique Stephan, Sylvie Odent, Damien Lanéelle, Sophie Dupuis-Girod, Guillaume Jondeau, Laurence Bal-Theoley |
A common variant rs2054564 in ADAMST17 is associated with susceptibility to lumbar spondylosis. Scientific reports 2023 3 13 (1): 4900. Taniguchi Yuki, Akune Toru, Nishida Nao, Omori Go, Ha Kim, Ueno Kazuko, Saito Taku, Oichi Takeshi, Koike Asako, Mabuchi Akihiko, Oka Hiroyuki, Muraki Shigeyuki, Oshima Yasushi, Kawaguchi Hiroshi, Nakamura Kozo, Tokunaga Katsushi, Tanaka Sakae, Yoshimura Nori |
Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature. Molecular genetics & genomic medicine 2023 3 e2166. Buki Gergely, Szalai Renata, Pinter Adrienn, Hadzsiev Kinga, Melegh Bela, Rauch Tibor, Bene Jud |
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases. Investigative ophthalmology & visual science 2023 2 64 (2): 5. Li Wei, He Xiang-Dong, Yang Zheng-Tao, Han Dong-Ming, Sun Yan, Chen Yan-Xian, Han Xiao-Tong, Guo Si-Cheng, Ma Yu-Ting, Jin Xin, Yang Huan-Ming, Gao Ya, Wang Zhuo-Shi, Li Jian-Kang, He W |
Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines. Annals of laboratory medicine 2023 10 . Seo Wan Kim, Boyeon Kim, Yoonjung Kim, Kyung-A L |
A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay. Human genome variation 2023 10 10 (1): 27. Takahito Moriwaki, Mitsuo Masuno, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Kayo Takao, Kazumi Tawa, Yasuko Yamanouchi, Atsushi Miki, Takanobu Oto |
Genetic Variants Associated With Systolic Blood Pressure in Children and Adolescents.
Journal of the American Heart Association 2023 1 12 (3): e027993. Pike Mindy M, Schildcrout Jonathan, Baldwin Scott, Edwards Todd, Lipworth Loren, Robinson-Cohen Cassian |
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia. Journal of translational medicine 2024 1 22 (1): 75. Yi Jiang, Xueshan Xiao, Wenmin Sun, Yingwei Wang, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, J Fielding Hejtmancik, Qingjiong Zha |
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- Page last updated:Apr 22, 2024
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