Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 67 Records) |
| Query Trace: Disease and COL1A1[original query] |
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| Hybrid minigene splicing assay verifies the pathogenicity of a novel splice site variant in the COL1A1 gene of a chinese patient with osteogenesis imperfecta type I. Injury 2019 10 50 (12): 2215-2219. Lin Yuxiang, Li Xiaoli, Huang Xinghua, Zheng Dezhu, Liu Yichu, Lan Fenghua, Wang Zhiho |
| Assessment of longitudinal bone growth in osteogenesis imperfecta using metacarpophalangeal pattern profiles. Bone 2020 7 140 115547. Rauch Damian, Robinson Marie-Eve, Seiltgens Cristian, Sutton V Reid, Lee Brendan, Glorieux Francis, Rauch Fra |
| Identification of six candidate genes for endometrial carcinoma by bioinformatics analysis. World journal of surgical oncology 2020 7 18 (1): 161. Zhu Yiming, Shi Liang, Chen Ping, Zhang Yingli, Zhu T |
| The vitamin D receptor Taq I polymorphism is associated with reduced VDR and increased PDIA3 protein levels in human intestinal fibroblasts. The Journal of steroid biochemistry and molecular biology 2020 6 202 105720. Gisbert-Ferrándiz Laura, Cosin-Roger Jesus, Hernández Carlos, Macias-Ceja Dulce C, Ortiz-Masiá Dolores, Salvador Pedro, Wildenberg M E, Esplugues Juan V, Alós Rafael, Navarro Francisco, Calatayud Sara, Barrachina María |
| Integrated bioinformatics analysis of the association between apolipoprotein E expression and patient prognosis in papillary thyroid carcinoma. Oncology letters 2020 3 19 (3): 2295-2305. Jiang Qunguang, Feng Wenqian, Xiong Chengfeng, Lv Yunx |
| Genetic Polymorphisms of MMP1, MMP9, COL1A1, and COL1A2 in Polish Patients with Thoracic Aortopathy. Disease markers 2020 2020 9567239. Gor?cy Iwona, Grudniewicz Seweryn, Safranow Krzysztof, Ciechanowicz Andrzej, Jakubiszyn Pawe?, Gor?cy Anna, Brykczy?ski Miros? |
| Diagnostic utility of next-generation sequence genetic panel testing in children presenting with a clinically significant fracture history. Archives of osteoporosis 2021 6 16 (1): 88. Harrington Jennifer, AlSubaihin Abdulmajeed, Dupuis Lucie, Kannu Peter, Mendoza-Londono Roberto, Howard Andr |
| Differential Mutation Detection Capability Through Capture-Based Targeted Sequencing in Plasma Samples in Hepatocellular Carcinoma. Frontiers in oncology 2021 5 11 596789. Gao Jian, Xi Lei, Yu Rentao, Xu Huailong, Wu Min, Huang Ho |
| A Case-control Study of Major Genetic Predisposition Risk Alleles in Developing DDD in the Northeast US Population: Effects of Gene-gene Interactions. Spine 2021 May . Valtchinov Vladimir I, Zhai Bingxue K, Hida Tomoyuki, Lacson Ronilda, Raja Ali, Hatabu Hiroro, Khorasani Ram |
| Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis. Bone 2021 11 154 116253. Cohen Adi, Hostyk Joseph, Baugh Evan H, Buchovecky Christie M, Aggarwal Vimla S, Recker Robert R, Lappe Joan M, Dempster David W, Zhou Hua, Kamanda-Kosseh Mafo, Bucovsky Mariana, Stubby Julie, Goldstein David B, Shane Elizabe |
| The Wnt/?-catenin signaling pathway has a healing ability for periapical periodontitis. Scientific reports 2021 10 11 (1): 19673. Naruse Haruna, Itoh Shousaku, Itoh Yuki, Kagioka Takumi, Abe Makoto, Hayashi Mika |
| Multiplex Protein Biomarker Profiling in Patients with Familial Hypercholesterolemia. Genes 2021 10 12 (10): . Dlouha Dana, Blaha Milan, Rohlova Eva, Hubacek Jaroslav A, Lanska Vera, Visek Jakub, Blaha Vladim |
| Association of rs12722 COL5A1 with pulmonary tuberculosis: a preliminary case-control study in a Kazakhstani population. Molecular biology reports 2021 1 48 (1): 691-699. Zhetkenev Sanzhar, Khassan Ayauly, Khamzina Armanay, Issanov Alpamys, Crape Byron, Akilzhanova Ainur, Yerezhepov Dauren, Kozhamkulov Ulan, Chan Chee K |
| Anatomical characteristics and potential gene mutation sites of a familial recurrent patellar dislocation. BMC medical genomics 2022 8 15 (1): 176. Zhang Qi-Hao, Zhang Yan, He Rui-Xuan, Guo Han-Ming, Wang Xin-Gua |
| Mutational Screening of Skeletal Genes in 14 Chinese Children with Osteogenesis Imperfecta Using Targeted Sequencing. Journal of immunology research 2022 6 2022 5068523. Tan Wei, Ji Yuelun, Qian Yuepeng, Lin Yongchang, Ye Ruolian, Wu Weiping, Li Yibin, Sun Yongjian, Pan Jiany |
| Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta. The American journal of case reports 2022 5 23 e935526. Cruz-Centeno Nelimar, Saenz-Maisonet Jean F, López-Dones Paola M, Santiago-Cornier Alberto, Ortiz-Justiniano Victor |
| Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders. The Journal of clinical endocrinology and metabolism 2022 3 107 (7): e3048-e3057. Oheim Ralf, Tsourdi Elena, Seefried Lothar, Beller Gisela, Schubach Max, Vettorazzi Eik, Stürznickel Julian, Rolvien Tim, Ehmke Nadja, Delsmann Alena, Genest Franca, Krüger Ulrike, Zemojtel Tomasz, Barvencik Florian, Schinke Thorsten, Jakob Franz, Hofbauer Lorenz C, Mundlos Stefan, Kornak U |
| Association of MTHFR rs1801133 and homocysteine with Legg-Calvé-Perthes disease in Mexican patients. Orphanet journal of rare diseases 2022 3 17 (1): 123. Buendía-Pazarán José Guillermo, Hernández-Zamora Edgar, Rodríguez-Olivas Armando O, Casas-Ávila Leonora, Valdés-Flores Margarita, Reyes-Maldonado El |
| Genetic Polymorphisms in COL1A2 gene and the Risk of Tendinopathy: Case-Control Study. Revista brasileira de ortopedia 2023 7 58 (3): 478-486. Lucas Rafael Lopes, João Antônio Matheus Guimarães, Marcus Vinicius Galvão Amaral, Camili Gomes Pereira, Victor Soares Wainchtock, Rodrigo Araujo Goes, Vitor Almeida Ribeiro de Miranda, Jamila Alessandra Peri |
| Genotype-phenotype relationship and comparison between eastern and western patients with osteogenesis imperfecta. Journal of endocrinological investigation 2023 6 . X Lin, J Hu, B Zhou, Q Zhang, Y Jiang, O Wang, W Xia, X Xing, M |
| Single Nucleotide Polymorphisms of the MEFV Gene E148Q Are Highly Associated With Disease Phenotype in Crohn's Disease. Inflammatory bowel diseases 2023 11 . Satoshi Yamada, Yusuke Honzawa, Shuji Yamamoto, Minoru Matsuura, Hiroki Kitamoto, Makoto Okabe, Nobuyuki Kakiuchi, Takahiko Toyonaga, Taku Kobayashi, Toshifumi Hibi, Hiroshi Seno, Hiroshi Naka |
| Bleomycin-Induced Pulmonary Fibrosis in Transgenic Mice Carrying the Human MUC5B rs35705950 Variant. Cells 2024 9 13 (18): . Suphachai Tharavecharak, Hajime Fujimoto, Taro Yasuma, Corina N D'Alessandro-Gabazza, Masaaki Toda, Atsushi Tomaru, Haruko Saiki, Mei Uemura, Yurie Kogue, Toshiyuki Ito, Kazuki Furuhashi, Tomohito Okano, Atsuro Takeshita, Kota Nishihama, Ryoichi Ono, Osamu Hataji, Tetsuya Nosaka, Tetsu Kobayashi, Esteban C Gabaz |
| Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants. Molecular biology reports 2024 9 51 (1): 984. Lothar Seefried, Anna Petryk, Guillermo Del Angel, Felix Reder, Peter Bau |
| Genetic Polymorphisms of COL1A1 Promoter Region (rs1800012) and TGFB1 Signal Peptide (rs1800471): Role in Cervical Insufficiency Susceptibility? Reproductive sciences (Thousand Oaks, Calif.) 2024 8 . Selim Gulucu, Mesut Onal, Nevin Karak |
| Identification of differentially expressed genes to predict the risk of heart failure in older patients with hypertrophic cardiomyopathy. Aging 2024 7 16 . Hao Dong, Chufan Yin, Dongping Xiao, Yong Ta |
| Genotype and Phenotype Correlation of Patients with Osteogenesis Imperfecta. The Journal of molecular diagnostics : JMD 2024 7 . Lamiya Aliyeva, Yasemin Denkboy Ongen, Erdal Eren, Mehmet Bartu Sarisozen, Adem Alemdar, Sehime G Temel, Sebnem Ozemri S |
| Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and Their Genotype-phenotype Correlation. Journal of clinical research in pediatric endocrinology 2024 6 . Samim Özen, Damla Gök?en, Ferda Evin, Esra I??k, Hüseyin Onay, Bilça? Akgün, Aysun Ata, Tahir Atik, Füsun Düzcan, Ferda Özk?nay, ?ükran Darcan, Özgür Ço?u |
| The Genetic Markers of Knee Osteoarthritis in Women from Russia. Biomedicines 2024 4 12 (4): . Anton Tyurin, Karina Akhiiarova, Ildar Minniakhmetov, Natalia Mokrysheva, Rita Khusaino |
| Bone Remodeling and Bone Structural Genes in Legg-Calvé-Perthes Disease: The OPG rs2073618 and IL-6 rs1800795 Are Associated with High Risk in Mexican Patients. DNA and cell biology 2024 4 . Blanca Lucía Cruz-Ortíz, Edgar Hernández-Zamora, Elba Reyes-Maldonado, Armando Odiseo Rodríguez-Olivas, Julieta Rubio-Lightbourn, Celeste O Martínez-Ramírez, Clementina Castro-Hernández, Ruth Lezama-Palacios, Leonora Casas-Avi |
| Association between ESR1 and COL1A1 gene polymorphisms and skeletal fluorosis in Tibetan, Kazakh, Mongolian and Russian populations, China. Environmental pollution (Barking, Essex : 1987) 2025 1 368 125697. Chao Zhang, Wenbo Lv, Ying Liu, Yunzhu Liu, Qingbo Wang, Yanmei Yang, Yanhui Gao, Yuting Jia |
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