Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Osteoporosis and PLS3[original query] |
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Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility. Frontiers in endocrinology 2018 9 380. Costantini Alice, Skarp Sini, Kämpe Anders, Mäkitie Riikka E, Pettersson Maria, Männikkö Minna, Jiao Hong, Taylan Fulya, Lindstrand Anna, Mäkitie Ou |
Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes. JBMR plus 2018 Jan 2 (1): 12-21. Collet Corinne, Ostertag Agnès, Ricquebourg Manon, Delecourt Marine, Tueur Giulia, Isidor Bertrand, Guillot Pascale, Schaefer Elise, Javier Rose-Marie, Funck-Brentano Thomas, Orcel Philippe, Laplanche Jean-Louis, Cohen-Solal Marti |
A novel nonsense variant in PLS3 causes X-linked osteoporosis in a Chinese family. Annals of human genetics 2019 7 84 (1): 92-96. Wang Lianqing, Bian Xinchao, Cheng Guangying, Zhao Peiqing, Xiang Xinxin, Tian Wenxiu, Li Tao, Zhai Qiao |
Genetic variants in the PLS3 gene are associated with osteoporotic fractures in postmenopausal Chinese women. Acta pharmacologica Sinica 2019 Mar . Shao Chong, Wang Yi-Wen, He Jin-Wei, Fu Wen-Zhen, Wang Chun, Zhang Zhen-L |
Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis. Bone 2021 11 154 116253. Cohen Adi, Hostyk Joseph, Baugh Evan H, Buchovecky Christie M, Aggarwal Vimla S, Recker Robert R, Lappe Joan M, Dempster David W, Zhou Hua, Kamanda-Kosseh Mafo, Bucovsky Mariana, Stubby Julie, Goldstein David B, Shane Elizabe |
Lipocalin-2 is associated with FGF23 in WNT1 and PLS3 osteoporosis. Frontiers in endocrinology 2022 9 13 954730. Loid Petra, Hauta-Alus Helena, Mäkitie Outi, Magnusson Per, Mäkitie Riikka |
Identification of a novel splicing mutation and genotype-phenotype correlations in rare PLS3-related childhood-onset osteoporosis. Orphanet journal of rare diseases 2022 6 17 (1): 247. Wu Zhichong, Feng Zhenhua, Zhu Xiufen, Dai Zhicheng, Min Kaixing, Qiu Yong, Yi Long, Xu Leilei, Zhu Zezha |
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 |
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- Page last updated:Apr 22, 2024
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