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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 2, 2024. (Total: 233998Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Otosclerosis and TGFB1[original query]
Detection of rare nonsynonymous variants in TGFB1 in otosclerosis patients.
Annals of human genetics 2009 Mar 73 (2): 171-5.
Thys M, Schrauwen I, Vanderstraeten K, Dieltjens N, Fransen E, Ealy M, Cremers C W R J, van de Heyning P, Vincent R, Offeciers E, Smith R H, van Camp
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
Genetic association and gene expression profiles of TGFB1 and the contribution of TGFB1 to otosclerosis susceptibility.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2013 May .
Priyadarshi S, Ray CS, Panda KC, Desai A, Nayak SR, Biswal NC, Ramchander PV
Genetic association analysis in a clinically and histologically confirmed otosclerosis population confirms association with the TGFB1 gene but suggests an association of the RELN gene with a clinically indistinguishable otosclerosis-like phenotype.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2014 Jul 35 (6): 1058-64.
Sommen Manou, Van Camp Guy, Liktor Balázs, Csomor Péter, Fransen Erik, Sziklai István, Schrauwen Isabelle, Karosi Tam
Otosclerosis Associated with a De Novo Mutation -832G?>?A in the TGFB1 Gene Promoter Causing a Decreased Expression Level.
Scientific reports 2016 6 29572.
Priyadarshi Saurabh, Hansdah Kirtal, Ray Chinmay Sundar, Biswal Narayan Chandra, Ramchander Puppala Venk
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
Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure. GWAS Catalog
Nature communications 2023 1 14 (1): 157.
Rämö Joel T, Kiiskinen Tuomo, Seist Richard, Krebs Kristi, Kanai Masahiro, Karjalainen Juha, Kurki Mitja, Hämäläinen Eija, Häppölä Paavo, Havulinna Aki S, Hautakangas Heidi, , Mägi Reedik, Palta Priit, Esko Tõnu, Metspalu Andres, Pirinen Matti, Karczewski Konrad J, Ripatti Samuli, Milani Lili, Stankovic Konstantina M, Mäkitie Antti, Daly Mark J, Palotie Aar
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