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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Hearing Loss and SLC26A5[original query]
High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss.
BMC medical genetics 2005 Aug 6 (): 30.
Tang Hsiao-Yuan, Xia Anping, Oghalai John S, Pereira Fred A, Alford Raye
Genetic analysis of presbycusis by arrayed primer extension.
Annals of clinical and laboratory science 2008 38 (4): 352-60.
Rodriguez-Paris Juan, Ballay Charles, Inserra Michelle, Stidham Katrina, Colen Tahl, Roberson Joseph, Gardner Phyllis, Schrijver Ir
Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss.
International journal of pediatric otorhinolaryngology 2009 Jan 73 (1): 103-7.
Teek Rita, Oitmaa Eneli, Kruustük Katrin, Zordania Riina, Joost Kairit, Raukas Elve, Tõnisson Neeme, Gardner Phyllis, Schrijver Iris, Kull Mart, Ounap Katr
DNA sequence analysis of SLC26A5, encoding prestin, in a patient-control cohort: identification of fourteen novel DNA sequence variations.
PloS one 2009 4 (6): e5762.
Minor Jacob S, Tang Hsiao-Yuan, Pereira Fred A, Alford Raye Ly
Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.
PloS one 2010 5 (7): e11804.
Rodriguez-Paris Juan, Pique Lynn, Colen Tahl, Roberson Joseph, Gardner Phyllis, Schrijver Ir
Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients.
Advances in medical sciences 2013 58 (2): 419-28.
Teek R, Kruustük K, Žordania R, Joost K, Kahre T, Tõnisson N, Nelis M, Zilina O, Tranebjaerg L, Reimand T, Ounap
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults. GWAS Catalog
Communications biology 2022 06 5 (1): 540.
Praveen Kavita, Dobbyn Lee, Gurski Lauren, Ayer Ariane H, Staples Jeffrey, Mishra Shawn, Bai Yu, Kaufman Alexandra, Moscati Arden, Benner Christian, Chen Esteban, Chen Siying, Popov Alexander, Smith Janell, , , , Melander Olle, Jones Marcus B, Marchini Jonathan, Balasubramanian Suganthi, Zambrowicz Brian, Drummond Meghan C, Baras Aris, Abecasis Goncalo R, Ferreira Manuel A, Stahl Eli A, Coppola Giovan
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