Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: Hearing Loss and COL1A2[original query] |
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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 |
Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain. American journal of medical genetics. Part A 2004 Jul 128A (1): 19-22. Rodríguez Laura, Rodríguez Santiago, Hermida Juan, Frade Carlos, Sande Esther, Visedo Guillermo, Martín Carlos, Zapata Carl |
Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis. Clinical genetics 2007 May 71 (5): 406-14. Chen W, Meyer N C, McKenna M J, Pfister M, McBride D J, Fukushima K, Thys M, Camp G V, Smith R J |
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 |
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 |
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 |
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