Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 87 Records) |
Query Trace: Osteogenesis Imperfecta[original query] |
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The role of WNT1 mutant variant (WNT1 ) in osteogenesis imperfecta. Annals of human genetics 2020 8 84 (6): 447-455. Zhang Bashan, Li Rong, Wang Wenfeng, Zhou Xueming, Luo Beijing, Zhu Zinian, Zhang Xibo, Ding Aiji |
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 |
The Genetics of Atypical Femur Fractures-a Systematic Review. Current osteoporosis reports 2021 2 19 (2): 123-130. Zhou Wei, van Rooij Jeroen G J, Ebeling Peter R, Verkerk Annemieke J M H, Zillikens M Caro |
A Founder Pathogenic Variant of PPIB Unique to Chinese Population Causes Osteogenesis Imperfecta IX. Frontiers in genetics 2021 10 12 717294. Zhu Wenting, Yan Kai, Chen Xijing, Zhao Wei, Wu Yiqing, Tang Huanna, Chen Ming, Wu Jian, Wang Pengpeng, Zhang Runju, Shen Yiping, Zhang D |
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 |
Rough endoplasmic reticulum expansion: a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta. Ultrastructural pathology 2021 Sep 1-7. Redman Melody G, Wagner Bart E, Cadden Sophie, Baker Duncan, Bowen Jessica M, Johnson Diana, Sobey Glenda, Balasubramanian Mee |
Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the WNT1 gene. Frontiers in endocrinology 2022 8 13 918682. Campopiano Maria Cristina, Fogli Antonella, Michelucci Angela, Mazoni Laura, Longo Antonella, Borsari Simona, Pardi Elena, Benelli Elena, Sardella Chiara, Pierotti Laura, Dinoi Elisa, Marcocci Claudio, Cetani Filome |
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 |
Osteoporosis related to WNT1 variants: a not infrequent cause of osteoporosis. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2022 11 34 (2): 405-411. Peris Pilar, Monegal Ana, Mäkitie Riikka E, Guañabens Nuria, González-Roca E |
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 |
Cranio-cervical abnormalities in moderate-to-severe osteogenesis imperfecta - Genotypic and phenotypic determinants. Orthodontics & craniofacial research 2023 8 . Juliana Marulanda, Jean-Marc Retrouvey, Brendan Lee, V Reid Sutton, , Frank Rauch, Michelle Brin |
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 |
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 |
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study. Frontiers in genetics 2023 3 14 1032346. Huang Yanlin, Liu Chang, Ding Hongke, Wang Yunan, Yu Lihua, Guo Fangfang, Li Fake, Shi Xiaomei, Zhang Yan, Yin Aih |
Genotypic and phenotypic spectrum and pathogenesis of WNT1 variants in a large cohort of patients with OI/osteoporosis. The Journal of clinical endocrinology and metabolism 2023 1 . Hu Jing, Lin Xiaoyun, Gao Peng, Zhang Qian, Zhou Bingna, Wang Ou, Jiang Yan, Xia Weibo, Xing Xiaoping, Li M |
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 |
Correlation of serum DKK1 level with skeletal phenotype in children with osteogenesis imperfecta. Journal of endocrinological investigation 2024 5 . Y Wang, J Hu, L Sun, B Zhou, X Lin, Q Zhang, O Wang, Y Jiang, W Xia, X Xing, M |
Genetic analysis, phenotype spectrum and functional study of rare osteogenesis imperfecta caused by CRTAP Variants. The Journal of clinical endocrinology and metabolism 2024 1 . Bingna Zhou, Peng Gao, Jing Hu, Xiaoyun Lin, Lei Sun, Qian Zhang, Yan Jiang, Ou Wang, Weibo Xia, Xiaoping Xing, Mei |
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