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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1989 1
1994 1
1998 2
1999 1
2000 1
2001 1
2002 1
2004 1
2006 1
2008 3
2009 2
2010 1
2013 2
2014 2
2015 3
2016 5
2017 2
2018 1
2019 2
2020 2
2021 3
2022 1
2024 0

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PubMed for id: 463625

37 results

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Page 1
Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.
Walsh T, Pierce SB, Lenz DR, Brownstein Z, Dagan-Rosenfeld O, Shahin H, Roeb W, McCarthy S, Nord AS, Gordon CR, Ben-Neriah Z, Sebat J, Kanaan M, Lee MK, Frydman M, King MC, Avraham KB. Walsh T, et al. Am J Hum Genet. 2010 Jul 9;87(1):101-9. doi: 10.1016/j.ajhg.2010.05.011. Epub 2010 Jun 17. Am J Hum Genet. 2010. PMID: 20602916 Free PMC article.
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
Pater JA, Penney C, O'Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB, Stanton SG, Young TL. Pater JA, et al. Hum Genet. 2022 Apr;141(3-4):431-444. doi: 10.1007/s00439-022-02444-x. Epub 2022 Mar 12. Hum Genet. 2022. PMID: 35278131 Free PMC article.
Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9): Part I-A Cross-sectional Study of Hearing Function in 111 Carriers.
JanssensdeVarebeke SPF, Moyaert J, Fransen E, Bulen B, Neesen C, Devroye K, van de Berg R, Pennings RJE, Topsakal V, Vanderveken O, Van Camp G, Van Rompaey V. JanssensdeVarebeke SPF, et al. Ear Hear. 2021 Nov-Dec 01;42(6):1508-1524. doi: 10.1097/AUD.0000000000001099. Ear Hear. 2021. PMID: 34369416 Free PMC article.
Prevalence and clinical features of hearing loss caused by EYA4 variants.
Shinagawa J, Moteki H, Nishio SY, Ohyama K, Otsuki K, Iwasaki S, Masuda S, Oshikawa C, Ohta Y, Arai Y, Takahashi M, Sakuma N, Abe S, Sakurai Y, Sakaguchi H, Ishino T, Uehara N, Usami SI. Shinagawa J, et al. Sci Rep. 2020 Feb 27;10(1):3662. doi: 10.1038/s41598-020-60259-0. Sci Rep. 2020. PMID: 32107406 Free PMC article. Clinical Trial.
37 results