Human Genome Epidemiology Literature Finder
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Records 1 - 11 (of 11 Records) |
| Query Trace: Hearing Loss and COL1A1[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 |
| Association of COL1A1 and TGFB1 polymorphisms with otosclerosis in a Tunisian population. Annals of human genetics 2011 Sep 75 (5): 598-604. Khalfallah Ayda, Schrauwen Isabelle, Mnejja Malek, HadjKacem Hassen, Dhouib Leila, Mosrati Mohamed Ali, Hakim Bochra, Lahmar Imed, Charfeddine Ilhem, Driss Nabil, Ayadi Hammadi, Ghorbel Abdelmonem, Van Camp Guy, Masmoudi Sab |
| COL1A1 association and otosclerosis: a meta-analysis. American journal of medical genetics. Part A 2012 May 158A (5): 1066-70. Schrauwen Isabelle, Khalfallah Ayda, Ealy Megan, Fransen Erik, Claes Charlotte, Huber Alex, Murillo Laura Rodriguez, Masmoudi Saber, Smith Richard J H, Van Camp G |
| Association of COL1A1 polymorphism in Turkish patients with otosclerosis. American journal of otolaryngology 0 34 (5): 403-6. Ertugay Omer Cagatay, Ata Pinar, Kalaycik Ertugay Cigdem, Kaya Kerem Sami, Tatlipinar Arzu, Kulekci Sem |
| Evidence of distinct RELN and TGFB1 genetic associations in familial and non-familial otosclerosis in a British population. Human genetics 2018 May . Mowat Andrew J, Crompton Michael, Ziff Joanna L, Aldren Christopher P, Lavy Jeremy A, Saeed Shakeel R, Dawson Sally |
| 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 |
| 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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