Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 52 Records) |
| Query Trace: Osteogenesis Imperfecta and COL1A1[original query] |
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| Individualized treatment with denosumab in children with osteogenesis imperfecta - follow up of a trial cohort. Orphanet journal of rare diseases 2019 9 14 (1): 219. Hoyer-Kuhn Heike, Rehberg Mirko, Netzer Christian, Schoenau Eckhard, Semler Oliv |
| Osteogenesis imperfecta in Brazilian patients. Genetics and molecular biology 2019 8 42 (2): 344-350. Trancozo Maira, Moraes Marcos V D, Silva Dalila A, Soares Jéssica A M, Barbirato Clara, Almeida Márcio G, Santos Lígia R, Rebouças Maria R G O, Akel Akel N, Sipolatti Valentim, Nunes Vanda R R, Errera Flavia I V, Aguena Meire, Passos-Bueno Maria R, Paula Flavia |
| 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 |
| Co-occurrence of heterozygous mutations in COL1A1 and SERPINF1 in a high-risk pregnancy complicated by osteogenesis imperfecta. Journal of genetics 2019 6 98 (2): . Ji Yunpeng, Ikram Aqsa, Ma Zhongren, Peppelenbosch Maikel P, Pan Qiuw |
| 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 |
| Validation and Classification of Atypical Splicing Variants Associated With Osteogenesis Imperfecta. Frontiers in genetics 2019 11 10 979. Li Lulu, Cao Yixuan, Zhao Feiyue, Mao Bin, Ren Xiuzhi, Wang Yanzhou, Guan Yun, You Yi, Li Shan, Yang Tao, Zhao Xiu |
| 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 |
| A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound. Prenatal diagnosis 2020 7 40 (10): 1300-1309. Corsten-Janssen Nicole, Bouman Katelijne, Diphoorn Janouk C D, Scheper Arjen J, Kinds Rianne, El Mecky Julia, Breet Hanna, Verheij Joke B G M, Suijkerbuijk Ron, Duin Leonie K, Manten Gwendolyn T R, van Langen Irene M, Sijmons Rolf H, Sikkema-Raddatz Birgit, Westers Helga, van Diemen Cleo |
| 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 |
| Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta. Orphanet journal of rare diseases 2020 4 15 (1): 80. Andersson Kristofer, Malmgren Barbro, Åström Eva, Nordgren Ann, Taylan Fulya, Dahllöf Gör |
| [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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing. Frontiers in pediatrics 2022 4 10 816090. Zhuang Jianlong, Chen Chunnuan, Chen Yu'e, Luo Qi, Wang Yuanbai, Jiang Yuying, Zeng Shuhong, Xie Yingjun, Chen Dongm |
| 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 |
| 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 |
| 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- |
| 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 |
| 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 |
| 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 |
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