Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 75 Records) |
Query Trace: COL3A1[original query] |
---|
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2. Clinical genetics 2020 12 99 (4): 547-557. Zarate Yuri A, Bosanko Katherine A, Thomas Mary Ann, Miller David T, Cusmano-Ozog Kristina, Martinez-Monseny Antonio, Curry Cynthia J, Graham John M, Velsher Lea, Bekheirnia Mir Reza, Seidel Veronica, Dedousis Demitrios, Mitchell Anna L, DiMarino Amy M, Riess Angelika, Balasubramanian Meena, Fish Jennifer L, Caffrey Aisling R, Fleischer Nicole, Pierson Tyler Mark, Lacro Ronald |
Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing. Circulation. Genomic and precision medicine 2020 10 13 (6): e003030. Carss Keren J, Baranowska Anna A, Armisen Javier, Webb Tom R, Hamby Stephen E, Premawardhana Diluka, Al-Hussaini Abtehale, Wood Alice, Wang Quanli, Deevi Sri V V, Vitsios Dimitrios, Lewis Samuel H, Kotecha Deevia, Bouatia-Naji Nabila, Hesselson Stephanie, Iismaa Siiri E, Tarr Ingrid, McGrath-Cadell Lucy, Muller David W, Dunwoodie Sally L, Fatkin Diane, Graham Robert M, Giannoulatou Eleni, Samani Nilesh J, Petrovski Slavé, Haefliger Carolina, Adlam Dav |
99-Case Study of Sporadic Aortic Dissection by Whole Exome Sequencing Indicated Novel Disease-Associated Genes and Variants in Chinese Population. BioMed research international 2020 2020 7857043. Wang Zanxin, Zhuang Xianmian, Chen Bailang, Wen Junmin, Peng Fang, Liu Xiling, Wei Minx |
Mutational Profile of Malignant Pleural Mesothelioma (MPM) in the Phase II RAMES Study. Cancers 2020 10 12 (10): . Pagano Maria, Ceresoli Luca Giovanni, Zucali Paolo Andrea, Pasello Giulia, Garassino Marina, Grosso Federica, Tiseo Marcello, Soto Parra Hector, Zanelli Francesca, Cappuzzo Federico, Grossi Francesco, De Marinis Filippo, Pedrazzoli Paolo, Gnoni Roberta, Bonelli Candida, Torricelli Federica, Ciarrocchi Alessia, Normanno Nicola, Pinto Carmi |
COL3A1, COL6A3, and SERPINH1 Are Related to Glucocorticoid-Induced Osteoporosis Occurrence According to Integrated Bioinformatics Analysis. Medical science monitor : international medical journal of experimental and clinical research 2020 10 26 e925474. Li Liuxun, Yang Meiling, Jin Anm |
Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma. BMC genomics 2021 Aug 22 (1): 590. Lo Faro Valeria, Ten Brink Jacoline B, Snieder Harold, Jansonius Nomdo M, Bergen Arthur |
Ehlers-Danlos syndrome type IV with a novel COL3A1 exon 14 skipping variation confirmed by Tohoku Medical Megabank Organization genomic database. The Journal of dermatology 2021 8 48 (12): 1918-1922. Shido Kosuke, Kojima Kaname, Yoshida-Akai Saaya, Kikuchi Katsuko, Hatamochi Atsushi, Aiba Setsuya, Yamasaki Kens |
Three genes associated with anterior and posterior cruciate ligament injury : a genome-wide association analysis. Bone & joint open 2021 Jun 2 (6): 414-421. Kim Stuart K, Nguyen Condor, Avins Andrew L, Abrams Geoffrey |
Identification of COL3A1 variants associated with sporadic thoracic aortic dissection: a case-control study. Frontiers of medicine 2021 5 15 (3): 438-447. Chen Yanghui, Sun Yang, Li Zongzhe, Li Chenze, Xiao Lei, Dai Jiaqi, Li Shiyang, Liu Hao, Hu Dong, Wu Dongyang, Hu Senlin, Yu Bo, Chen Peng, Xu Ping, Kong Wei, Wang Dao W |
Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1. PloS one 2021 16 (5): e0251289. Urbizu Aintzane, Garrett Melanie E, Soldano Karen, Drechsel Oliver, Loth Dorothy, Marcé-Grau Anna, Mestres I Soler Olga, Poca Maria A, Ossowski Stephan, Macaya Alfons, Loth Francis, Labuda Rick, Ashley-Koch Allis |
COL3A1 rs1800255 polymorphism is associated with pelvic organ prolapse susceptibility in Caucasian individuals: Evidence from a meta-analysis. PloS one 2021 4 16 (4): e0250943. Niu Ke, Chen Xu, Lu Yongxi |
Spontaneous Cervical Artery Dissection in Vascular Ehlers-Danlos Syndrome: A Cohort Study. Stroke 2021 3 52 (5): 1628-1635. Adham Salma, Billon Clarisse, Legrand Anne, Domigo Valérie, Denarié Nicolas, Charpentier Etienne, Jeunemaitre Xavier, Frank Micha |
Collagen type 1A1, type 3A1, and LOXL1/4 polymorphisms as risk factors of pelvic organ prolapse. BMC research notes 2021 Jan 14 (1): 15. Ashikari Asuka, Suda Tetsuji, Miyazato Mino |
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 |
A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features. American journal of medical genetics. Part A 2022 4 188 (7): 2192-2197. Lavanya Katta, Mahtani Karishma, Abbott Jessica, Jain Angita, Selvam Pavalan, Atwal Herjot, Farres Houssam, Atwal Paldeep |
Gene variants previously associated with reduced soft tissue injury risk: Part 1 - independent associations with elite status in rugby. European journal of sport science 2022 3 1-10. Brazier Jon, Antrobus Mark R, Herbert Adam J, Callus Peter C, Stebbings Georgina K, Day Stephen H, Heffernan Shane M, Kilduff Liam P, Bennett Mark A, Erskine Robert M, Raleigh Stuart M, Collins Malcolm, Pitsiladis Yannis P, Williams Alun |
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 |
Investigating the association between COL1A1 and COL3A1 gene variants and knee joint laxity and ligament measurements. Clinical biomechanics (Bristol, Avon) 2022 11 100 105822. Beckley Samantha, Dey Roopam, Stinton Shaun, van der Merwe Willem, Branch Thomas, September Alison V, Posthumus Mike, Collins Malco |
Novel variants identified in a three?generation family with concomitant exotropia. Experimental and therapeutic medicine 2022 10 24 (5): 688. Li Jiaxun, Ma Yishi, Zhou Wentao, Lyu Wenchao, Wang Liming, Mao Song, Li Jin, Shi Xuefe |
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 |
Novel Molecular Determinants of Response or Resistance to Immune Checkpoint Inhibitor Therapies in Melanoma. Frontiers in immunology 2022 1 12 798474. Zhang Wenjing, Kong Yujia, Li Yuting, Shi Fuyan, Lyu Juncheng, Sheng Chao, Wang Suzhen, Wang Qingh |
Collagen type 3A1 and 1A1 polymorphisms in women with pelvic organ prolapse and urinary incontinence assessed with Sanger sequencing method. Central European journal of urology 2022 1 74 (4): 566-570. Kasyan George, Vishnevskiy Dmitry, Akulenko Larisa, Grigoryan Bagrat, Pivazyan Laura, Pushkar Dmit |
Vertebral Tortuosity Is Associated With Increased Rate of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome. Journal of the American Heart Association 2023 9 12 (19): e029518. Sara B Stephens, Sherene Shalhub, Nicholas Dodd, Jesse Li, Michael Huang, Seitaro Oda, Kalyan Kancherla, Tam T Doan, Siddharth K Prakash, Justin D Weigand, Federico M Asch, Taylor Beecroft, Alana Cecchi, Teniola Shittu, Liliana Preiss, Scott A LeMaire, Richard B Devereux, Reed E Pyeritz, Kathryn W Holmes, Mary J Roman, Ronald V Lacro, Ralph V Shohet, Rajesh Krishnamurthy, Kim Eagle, Peter Byers, Dianna M Milewicz, Shaine A Morr |
Endovascular repair of a common iliac artery aneurysm with an iliac branch device in a patient with vascular Ehlers-Danlos syndrome due to a null COL3A1 variant. Journal of vascular surgery cases and innovative techniques 2023 6 9 (2): 101192. Sherene Shalhub, Peter H Bye |
The Associations of Single Nucleotide Polymorphisms of the COL3A1, COL6A5, and COL8A1 Genes with Atopic Dermatitis. Journal of personalized medicine 2023 4 13 (4): . Krzysztof Szalus, Weronika Zysk, Jolanta Gle?, Monika Zab?otna, Roman J Nowicki, Magdalena Trzeci |
Features of Vascular Ehlers-Danlos Syndrome Among Biobank Participants Harboring Predicted High-Risk COL3A1 Genotypes. Circulation. Genomic and precision medicine 2023 3 e003864. Lui Madeline M, Shadrina Mariya, Gelb Bruce D, Kontorovich Amy |
The Impact of Genetic Polymorphisms on Anterior Cruciate Ligament Injuries in Athletes: A Meta-Analytical Approach. Biology 2023 12 12 (12): . Alpay Bulbul, Erdal Ari, Necdet Apaydin, Gokhan Ipekog |
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 |
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients. Circulation. Genomic and precision medicine 2024 4 e003978. Serwet Demirdas, Lisa M van den Bersselaar, Rosan Lechner, Jessica Bos, Suzanne I M Alsters, Marieke J H Baars, Annette F Baas, Özlem Baysal, Saskia N van der Crabben, Eelco Dulfer, Noor A A Giesbertz, Apollonia T J M Helderman-van den Enden, Yvonne Hilhorst-Hofstee, Marlies J E Kempers, Fenne L Komdeur, Bart Loeys, Daniëlle Majoor-Krakauer, Charlotte W Ockeloen, Eline Overwater, Peter J van Tintelen, Marsha Voorendt, Vivian de Waard, Alessandra Maugeri, Hennie T Brüggenwirth, Ingrid M B H van de Laar, Arjan C Houweli |
A Functional Single-Nucleotide Polymorphism Upstream of the Collagen Type III Gene Is Associated with Catastrophic Fracture Risk in Thoroughbred Horses. Animals : an open access journal from MDPI 2024 1 14 (1): . Esther Palomino Lago, Arabella Baird, Sarah C Blott, Rhona E McPhail, Amy C Ross, Sian A Durward-Akhurst, Deborah J Gue |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: