Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 38 Records) |
Query Trace: Osteogenesis Imperfecta and COL1A2[original query] |
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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 |
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 |
Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2. Clinical case reports 2016 Oct 4 (10): 972-978. Frederiksen Anja Lisbeth, Duno Morten, Johnsen Iben B G, Nielsen Morten Frost, Krøigård Anne Bru |
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 |
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 |
Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta. Bone 2018 3 110 368-377. Mrosk Julia, Bhavani Gandham SriLakshmi, Shah Hitesh, Hecht Jochen, Krüger Ulrike, Shukla Anju, Kornak Uwe, Girisha Katta Moh |
Genotype and malocclusion in patients with osteogenesis imperfecta. Orthodontics & craniofacial research 2018 2 21 (2): 71-77. Jabbour Z, Al-Khateeb A, Eimar H, Retrouvey J M, Rizkallah J, Glorieux F H, Rauch F, Tamimi |
Longitudinal growth curves for children with classical osteogenesis imperfecta (types III and IV) caused by structural pathogenic variants in type I collagen. Genetics in medicine : official journal of the American College of Medical Genetics 2018 10 21 (5): 1233-1239. Barber Lauren A, Abbott Craig, Nakhate Vihang, Do An N Dang, Blissett Angela R, Marini Joan |
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 |
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 |
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 |
A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2. Journal of advanced research 2020 2 21 121-127. Hemwong Nalinee, Phokaew Chureerat, Srichomthong Chalurmpon, Tongkobpetch Siraprapa, Srilanchakon Khomsak, Supornsilchai Vichit, Suphapeetiporn Kanya, Porntaveetus Thantrira, Shotelersuk Voras |
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 |
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 |
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 |
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 |
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- Page last updated:Apr 29, 2024
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