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

Year Number of Results
1949 1
1969 1
1973 1
1981 1
1986 1
1989 2
1993 1
1994 4
1995 4
1996 7
1997 3
1998 9
1999 10
2000 22
2001 15
2002 8
2003 9
2004 9
2005 11
2006 13
2007 22
2008 15
2009 20
2010 17
2011 19
2012 14
2013 13
2014 10
2015 13
2016 7
2017 7
2018 4
2019 2
2020 5
2021 3
2022 3
2023 3
2024 0

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Similar articles for PMID: 11462234

276 results

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Page 1
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.
Scott HS, Kudoh J, Wattenhofer M, Shibuya K, Berry A, Chrast R, Guipponi M, Wang J, Kawasaki K, Asakawa S, Minoshima S, Younus F, Mehdi SQ, Radhakrishna U, Papasavvas MP, Gehrig C, Rossier C, Korostishevsky M, Gal A, Shimizu N, Bonne-Tamir B, Antonarakis SE. Scott HS, et al. Nat Genet. 2001 Jan;27(1):59-63. doi: 10.1038/83768. Nat Genet. 2001. PMID: 11137999
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nürnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nürnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B. Kalay E, et al. Hum Mutat. 2006 Jul;27(7):633-9. doi: 10.1002/humu.20368. Hum Mutat. 2006. PMID: 16752389
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
Guipponi M, Vuagniaux G, Wattenhofer M, Shibuya K, Vazquez M, Dougherty L, Scamuffa N, Guida E, Okui M, Rossier C, Hancock M, Buchet K, Reymond A, Hummler E, Marzella PL, Kudoh J, Shimizu N, Scott HS, Antonarakis SE, Rossier BC. Guipponi M, et al. Hum Mol Genet. 2002 Nov 1;11(23):2829-36. doi: 10.1093/hmg/11.23.2829. Hum Mol Genet. 2002. PMID: 12393794
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
Ahmed ZM, Li XC, Powell SD, Riazuddin S, Young TL, Ramzan K, Ahmad Z, Luscombe S, Dhillon K, MacLaren L, Ploplis B, Shotland LI, Ives E, Riazuddin S, Friedman TB, Morell RJ, Wilcox ER. Ahmed ZM, et al. BMC Med Genet. 2004 Sep 24;5:24. doi: 10.1186/1471-2350-5-24. BMC Med Genet. 2004. PMID: 15447792 Free PMC article.
276 results