HuGE Literature Finder
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| Genotype-phenotype relationship and follow-up analysis of a Chinese osteogenesis imperfecta cohort. 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 |
| 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 |
| [Analysis of COL1A1 gene variants in five Chinese pedigrees affected with osteogenesis imperfecta]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Feb 37 (2): 123-126. Jiao Zhihui, Zheng Lili, Kong Xiangdo |
| Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2019 Jul . Ohata Y, Takeyari S, Nakano Y, Kitaoka T, Nakayama H, Bizaoui V, Yamamoto K, Miyata K, Yamamoto K, Fujiwara M, Kubota T, Michigami T, Yamamoto K, Yamamoto T, Namba N, Ebina K, Yoshikawa H, Ozono |
| Extremely low level of serum pigment epithelium-derived factor is a special biomarker of Chinese osteogenesis imperfecta patients with SERPINF1 mutations. Clinica chimica acta; international journal of clinical chemistry 2018 Mar 478 216-221. Wang Jian-Yi, Li Lu-Jiao, Zhang Qian, Liu Yi, Lv Fang, Xu Xiao-Jie, Song Yu-Wen, Wang Ou, Jiang Yan, Xia Wei-Bo, Xing Xiao-Ping, Li M |
| Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients. Human genomics 2017 Aug 11 (1): 19. Zhytnik Lidiia, Maasalu Katre, Reimann Ene, Prans Ele, Kõks Sulev, Märtson Aa |
| 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 |
| Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. Human genomics 2016 10 (1): 27. Ho Duy Binh, Zhytnik Lidiia, Maasalu Katre, Kändla Ivo, Prans Ele, Reimann Ene, Märtson Aare, Kõks Sul |
| Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice. Scientific reports 2016 6 28417. Árvai Kristóf, Horváth Péter, Balla Bernadett, Tobiás Bálint, Kató Karina, Kirschner Gyöngyi, Klujber Valéria, Lakatos Péter, Kósa János |
| [Spectrum of COL1A1/2 mutations and gene diagnosis in Chinese patients with osteogenesis imperfecta]. Zhonghua yi xue za zhi 2015 Nov 95 (43): 3484-9. Zhao Xiuli, Xiao Jifang, Wang Han, Ren Xiuzhi, Gao Jinsong, Wu Yiyang, Lu Chaoxia, Zhang X |
| Body Composition in Children and Adolescents with Osteogenesis Imperfecta. The Journal of pediatrics 2015 Nov . Palomo Telma, Glorieux Francis H, Schoenau Eckhard, Rauch Fra |
| 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 |
| Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2013 Sep 28 (9): 2001-7. Ben Amor I Mouna, Roughley Peter, Glorieux Francis H, Rauch Fra |
| COL1A1 association and otosclerosis: a meta-analysis. American journal of medical genetics. Part A 2012 May 158A (5): 1066-70. Schrauwen Isabelle, Khalfallah Ayda, Ealy Megan, Fransen Erik, Claes Charlotte, Huber Alex, Murillo Laura Rodriguez, Masmoudi Saber, Smith Richard J H, Van Camp G |
| Cranial base abnormalities in osteogenesis imperfecta: phenotypic and genotypic determinants. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2011 Feb 26 (2): 405-13. Cheung Moira S, Arponen Heidi, Roughley Peter, Azouz Michel E, Glorieux Francis H, Waltimo-Sirén Janna, Rauch Fra |
| Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2010 Jun 25 (6): 1367-74. Rauch Frank, Lalic Liljana, Roughley Peter, Glorieux Francis |
| Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. Human mutation 2004 Aug 24 (2): 147-54. Hartikka Heini, Kuurila Kaija, Körkkö Jarmo, Kaitila Ilkka, Grénman Reidar, Pynnönen Seppo, Hyland James C, Ala-Kokko Lee |
| Three novel polymorphic sequence variants in the type I collagen gene COL1A1, the main disease locus for Osteogenesis Imperfecta. Molecular and cellular probes 2000 Dec 14 (6): 329-32. Mirandola S, Pignatti P F, Mottes |
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- Page last updated:Jun 28, 2022
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