Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 106 Records) |
Query Trace: COL1A2[original query] |
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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? |
Recurrent germline mutations as genetic markers for aortic root dilatation in bicuspid aortic valve patients. Heart and vessels 2020 Oct . Wu Boting, Li Jun, Wang Yongshi, Cheng Yunfeng, Wang Chunsheng, Shu Xianho |
Genotypic and Phenotypic Characteristics of 29 Patients With Rare Types of Osteogenesis Imperfecta: Average 5 Years of Follow-Up. Frontiers in genetics 2021 8 12 622078. Xi Lei, Zhang Hao, Zhang Zhen-L |
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 |
Postmortem detection of COL gene family variants in two aortic dissection cases. International journal of legal medicine 2021 6 136 (1): 85-91. Pan Meichen, Wang Yuning, Li Lianjie, Li Zehao, Wu Shifan, Liu Qi |
Clinical, genetic characteristics and treatment outcomes of children and adolescents with osteogenesis imperfecta: a two-center experience. Connective tissue research 2021 6 63 (4): 349-358. Erba? ?brahim Mert, ?lgün Gürel Deniz, Manav Kabaye?it Zehra, Koç Altu?, Ünüvar Tolga, Abac? Ayhan, Böber Ece, An?k Ahm |
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 |
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 |
Impact of STAT1 polymorphisms on crizotinib-induced hepatotoxicity in ALK-positive non-small cell lung cancer patients. Journal of cancer research and clinical oncology 2021 1 147 (3): 725-737. Xin Shuang, Fang Wenfeng, Li Jianwen, Li Delan, Wang Changzheng, Huang Quanfei, Huang Min, Zhuang Wei, Wang Xueding, Chen Lik |
Osteogenesis Imperfecta: The Impact of Genotype and Clinical Phenotype on Adiposity and Resting Energy Expenditure. The Journal of clinical endocrinology and metabolism 2021 Sep . Ballenger Kaitlin L, Tugarinov Nicol, Talvacchio Sara K, Knue Marianne M, Dang Do An N, Ahlman Mark A, Reynolds James C, Yanovski Jack A, Marini Joan |
Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta. Frontiers in endocrinology 2022 8 13 935905. Mei Yazhao, Zhang Hao, Zhang Zhenl |
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 |
Genotype-Phenotype Relationship and Follow-up Analysis of a Chinese Cohort With Osteogenesis Imperfecta. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2022 May . Wei Shuoshuo, Yao Yangyang, Shu Meng, Gao Ling, Zhao Jiajun, Li Tianyou, Wang Yanzhou, Xu Ch |
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 |
On the association between Chiari malformation type 1, bone mineral density and bone related genes. Bone reports 2022 3 16 101181. Martínez-Gil Núria, Mellibovsky Leonardo, Manzano-López González Demián, Patiño Juan David, Cozar Monica, Rabionet Raquel, Grinberg Daniel, Balcells Susan |
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 |
Influence of type I collagen polymorphisms and risk of anterior cruciate ligament rupture in athletes: a case-control study. BMC musculoskeletal disorders 2022 Feb 23 (1): 154. Perini Jamila Alessandra, Lopes Lucas Rafael, Guimarães João Antonio Matheus, Goes Rodrigo Araújo, Pereira Luiz Fernando Alves, Pereira Camili Gomes, Mandarino Marcelo, Villardi Alfredo Marques, de Sousa Eduardo Branco, Cossich Victor Rodrigues Amar |
Phenotypic Spectrum and Molecular Basis in a Chinese Cohort of Osteogenesis Imperfecta With Mutations in Type I Collagen. Frontiers in genetics 2022 2 13 816078. Chen Peikai, Tan Zhijia, Shek Hiu Tung, Zhang Jia-Nan, Zhou Yapeng, Yin Shijie, Dong Zhongxin, Xu Jichun, Qiu Anmei, Dong Lina, Gao Bo, To Michael Kai Ts |
Cardiovascular abnormalities and its correlation with genotypes of children with osteogenesis imperfecta. Frontiers in endocrinology 2022 11 13 1004946. Zhao Dichen, Liu Yongtai, Liu Jidong, Hu Jing, Zhang Qian, Wang Ou, Jiang Yan, Xia Weibo, Xing Xiaoping, Li M |
Single Nucleotide Polymorphisms and Dental Fluorosis: A Systematic Review. Dentistry journal 2022 11 10 (11): . González-Casamada Carlos, Nevarez-Rascón Martina, Nevarez-Rascón Alfredo, González-Galván María, Isiordia-Espinoza Mario Alberto, Bologna-Molina Ronell, Sánchez-Pérez Leonor, Molina-Frechero Nel |
Low expression of the metabolism-related gene SLC25A21 predicts unfavourable prognosis in patients with acute myeloid leukaemia. Frontiers in genetics 2022 10 13 970316. Wang Wenjun, Liang Qian, Zhao Jingyu, Pan Hong, Gao Zhen, Fang Liwei, Zhou Yuan, Shi J |
Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta. Annals of pediatric endocrinology & metabolism 2022 1 27 (1): 22-29. Choi Yunha, Hwang Soojin, Kim Gu-Hwan, Lee Beom Hee, Yoo Han-Wook, Choi Jin- |
Possible Association Between Polymorphisms in ESR1, COL1A2, BGLAP, SPARC, VDR, and MMP2 Genes and Dental Fluorosis in a Population from an Endemic Region of West Bengal. Biological trace element research 2022 Jan . Chakraborty Arijit, Pramanik Sreemanta, Datta Kallol, Goswami Rakesh, Saha Depanwita, Majumdar Kunal Kanti, Sikdar Nilab |
Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients. Orphanet journal of rare diseases 2023 9 18 (1): 295. Peikai Chen, Yapeng Zhou, Zhijia Tan, Yunzhi Lin, Daniel Li-Liang Lin, Jingwei Wu, Zeluan Li, Hiu Tung Shek, Jianbin Wu, Yong Hu, Feng Zhu, Danny Chan, Kenneth Man-Chee Cheung, Michael Kai-Tsun |
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 |
Genetic diagnosis of fetal microcephaly at a single tertiary center in China. Frontiers in genetics 2023 5 14 1112153. You Wang, Fang Fu, Tingying Lei, Li Zhen, Qiong Deng, Hang Zhou, Chunling Ma, Ken Cheng, Ruibin Huang, Ru Li, Qiuxia Yu, Lushan Li, Jin Han, Xin Yang, Dongzhi Li, Can Li |
Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta. Journal of dental research 2023 3 220345231154569. Yamaguti P M, de La Dure-Molla M, Monnot S, Cardozo-Amaya Y J, Baujat G, Michot C, Fournier B P J, Riou M C, Caldas Rosa E C C, Soares de Lima Y, Dos Santos P A C, Alcaraz G, Guerra E N S, Castro L C, de Oliveira S F, Pogue R, Berdal A, de Paula L M, Mazzeu J F, Cormier-Daire V, Acevedo A |
[Mutational Signatures Analysis of Micropapillary Components and Exploration of ZNF469 Gene in Early-stage Lung Adenocarcinoma with Ground-glass Opacities]. Zhongguo fei ai za zhi = Chinese journal of lung cancer 2023 12 26 (12): 889-900. Youtao Xu, Qinhong Sun, Siwei Wang, Hongyu Zhu, Guozhang Dong, Fanchen Meng, Zhijun Xia, Jing You, Xiangru Kong, Jintao Wu, Peng Chen, Fangwei Yuan, Xinyu Yu, Jinfu Ji, Zhitong Li, Pengcheng Zhu, Yuxiang Sun, Tongyan Liu, Rong Yin, Lin |
Comprehensive genomic analysis of cemento-ossifying fibroma. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2023 11 100388. Ricardo Santiago Gomez, Ahmed El Mouatani, Filipe Fideles Duarte-Andrade, Thais Dos Santos Fontes Pereira, Letícia Martins Guimarães, Tenzin Gayden, Damien Faury, Emily M Nakada, Sylvie Langlois, Daniel Sinnett, Wagner Henriques de Castro, Marina Gonçalves Diniz, Nada Jabado, Carolina Cavalieri Gom |
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