Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: COL17A1[original query] |
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Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochemical and biophysical research communications 2004 May 317 (3): 887-92. Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K |
Genetic variation in COL17A1 and the development of bullous pemphigoid. Experimental dermatology 2004 Mar 13 (3): 140-7. Winsey Samantha, Lonie Lorne, Allen Jill, Bunce Mike, Marshall Sara E, Wojnarowska Fenel |
A genome-wide association study identifies five loci influencing facial morphology in Europeans. PLoS genetics 2012 Sep 8 (9): 9. Liu F, van der Lijn F, Schurmann C, Zhu G, Chakravarty MM, Hysi PG, Wollstein A, Lao O, de Bruijne M, Ikram MA, van der Lugt A, Rivadeneira F, Uitterlinden AG, Hofman A, Niessen WJ, Homuth G, de Zubicaray G, McMahon KL, Thompson PM, Daboul A, Puls R, Hegenscheid K, Bevan L, Pausova Z, Medland SE, Montgomery GW, Wright MJ, Wicking C, Boehringer S, Spector TD, Paus T, Martin NG, Biffar R, Kayser M |
Identification of six polymorphisms as novel susceptibility loci for ischemic or hemorrhagic stroke by exome-wide association studies. International journal of molecular medicine 2017 Jun 39 (6): 1477-1491. Yamada Yoshiji, Sakuma Jun, Takeuchi Ichiro, Yasukochi Yoshiki, Kato Kimihiko, Oguri Mitsutoshi, Fujimaki Tetsuo, Horibe Hideki, Muramatsu Masaaki, Sawabe Motoji, Fujiwara Yoshinori, Taniguchi Yu, Obuchi Shuichi, Kawai Hisashi, Shinkai Shoji, Mori Seijiro, Arai Tomio, Tanaka Masas |
Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa. Human mutation 2018 7 39 (10): 1349-1354. Vahidnezhad Hassan, Youssefian Leila, Saeidian Amir Hossein, Touati Andrew, Sotoudeh Soheila, Jazayeri Ali, Guy Alyson, Lovell Patricia A, Liu Lu, Kariminejad Ariana, McGrath John A, Zeinali Sirous, Uitto Jou |
Novel Mutations Associated With Various Types of Corneal Dystrophies in a Han Chinese Population. Frontiers in genetics 2019 10 881. Zhang Jing, Wu Dan, Li Yue, Fan Yidan, Chen Huiyu, Hong Jiaxu, Xu Jianjia |
COL17A1 gene polymorphisms are frequent in bullous pemphigoid. Journal of the European Academy of Dermatology and Venereology : JEADV 2021 Apr . Tabatabaei-Panah P-S, Moravvej H, Alirajab M, Arghand F, Babaei H, Didehvar E, Hajmanouchehri S, Hosseine F, Karimi A, Mahdian M, Parvizi Moridani S, Sakhaie F, Ludwig R J, Akbarzadeh |
Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing. Molecular genetics and genomics : MGG 2022 Jul . D?browska Justyna, Biedziak Barbara, Szponar-?urowska Anna, Budner Margareta, Jagodzi?ski Pawe? P, P?oski Rafa?, Mostowska Adrian |
COL17A1 germline variant p.Ser1029Ala and mucosal malignant melanoma: An autopsy study. Molecular and clinical oncology 2022 1 16 (2): 32. Tong Daike, Tanaka Masashi, Eguchi Hidetaka, Okazaki Yasushi, Muramatsu Masaaki, Arai Tom |
Identification of Novel Risk Variants of Non-Syndromic Cleft Palate by Targeted Gene Panel Sequencing. Journal of clinical medicine 2023 3 12 (5): . D?browska Justyna, Biedziak Barbara, Bogdanowicz Agnieszka, Mostowska Adrian |
Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa. Pediatric dermatology 2023 10 . Shir Bergson, Daniel Daniely, David Bomze, Janan Mohamad, Kiril Malovitski, Odile Meijers, Valeria Briskin, Ofer Bihari, Natalia Malchin, Shirli Israeli, Jacob Mashiah, Tzipora Falik-Zaccai, Emily Avitan-Hersh, Marina Eskin-Schwartz, Stavit Allon-Shalev, Ofer Sarig, Eli Sprecher, Liat Samuel |
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- Page last updated:Apr 29, 2024
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