Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: Dentinogenesis Imperfecta and COL1A1[original query] |
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Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. European journal of human genetics : EJHG 2015 Aug 23 (8): 1042-50. Lindahl Katarina, Åström Eva, Rubin Carl-Johan, Grigelioniene Giedre, Malmgren Barbro, Ljunggren Östen, Kindmark Andre |
Osteogenesis imperfecta Type I caused by a novel mutation in the start codon of the COL1A1 gene in a Korean family. Annals of clinical and laboratory science 2015 45 (1): 100-5. Cho Sung Yoon, Lee Ji-Ho, Ki Chang-Seok, Chang Mi Sun, Jin Dong-Kyu, Han Heon-Se |
Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. Oral diseases 2016 Aug . Malmgren Barbro, Andersson Kristofer, Lindahl Katarina, Kindmark Andreas, Grigelioniene Giedre, Zachariadis Vasilios, Dahllöf Göran, Åström E |
Genotype-phenotype correlation among Malaysian patients with osteogenesis imperfecta. Clinica chimica acta; international journal of clinical chemistry 2018 5 484 141-147. Mohd Nawawi Nadiah, Selveindran Nalini M, Rasat Rahmah, Chow Yock Ping, Abdul Latiff Zarina, Syed Zakaria Syed Zulkifli, Jamal Rahman, Abdul Murad Nor Azian, Abd Aziz Bilkis Ba |
NOVEL MUTATIONS IN THE WNT1, TMEM38B, P4HB, AND PLS3 GENES IN FOUR UNRELATED CHINESE FAMILIES WITH OSTEOGENESIS IMPERFECTA. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2019 3 25 (3): 230-241. Cao Yang-Jia, Zhang Hao, Zhang Zhen-L |
Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients. European journal of human genetics : EJHG 2019 3 27 (7): 1090-1100. Maioli Margherita, Gnoli Maria, Boarini Manila, Tremosini Morena, Zambrano Anna, Pedrini Elena, Mordenti Marina, Corsini Serena, D'Eufemia Patrizia, Versacci Paolo, Celli Mauro, Sangiorgi Lu |
Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system. Chinese medical journal 2019 1 132 (2): 145-153. Li Lu-Jiao, Lyu Fang, Song Yu-Wen, Wang Ou, Jiang Yan, Xia Wei-Bo, Xing Xiao-Ping, Li M |
High bone mass phenotype in a cohort of patients with Osteogenesis Imperfecta caused due to BMP1 and C-propeptide cleavage variants in COL1A1. Bone reports 2021 7 15 101102. Campanini E H, Baker D, Arundel P, Bishop N J, Offiah A C, Keigwin S, Cadden S, Dall'Ara E, Nicolaou N, Giles S, Fernandes J A, Balasubramanian |
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 |
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 |
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