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Results by year

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

Year Number of Results
1993 62
1998 5
1999 2
2000 6
2001 6
2002 5
2003 5
2004 6
2005 6
2006 5
2007 3
2008 5
2009 2
2010 3
2011 5
2012 7
2013 4
2014 4
2015 3
2016 3
2017 7
2018 4
2019 11
2020 8
2021 14
2022 15
2023 11
2024 8

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Similar articles for PMID: 20301442

101 results

Results by year

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Page 1
Usher Syndrome Type I.
Koenekoop RK, Arriaga MA, Trzupek KM, Lentz JJ. Koenekoop RK, et al. 1999 Dec 10 [updated 2020 Oct 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1999 Dec 10 [updated 2020 Oct 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301442 Free Books & Documents. Review.
Usher Syndrome Type II.
Koenekoop R, Arriaga M, Trzupek KM, Lentz J. Koenekoop R, et al. 1999 Dec 10 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1999 Dec 10 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301515 Free Books & Documents. Review.
Novel mutations in the USH1C gene in Usher syndrome patients.
Aparisi MJ, García-García G, Jaijo T, Rodrigo R, Graziano C, Seri M, Simsek T, Simsek E, Bernal S, Baiget M, Pérez-Garrigues H, Aller E, Millán JM. Aparisi MJ, et al. Mol Vis. 2010 Dec 31;16:2948-54. Mol Vis. 2010. PMID: 21203349 Free PMC article.
An update on the genetics of usher syndrome.
Millán JM, Aller E, Jaijo T, Blanco-Kelly F, Gimenez-Pardo A, Ayuso C. Millán JM, et al. J Ophthalmol. 2011;2011:417217. doi: 10.1155/2011/417217. Epub 2010 Dec 23. J Ophthalmol. 2011. PMID: 21234346 Free PMC article.
GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss.
Smith RJH, Azaiez H, Booth K. Smith RJH, et al. 1998 Sep 28 [updated 2023 Jul 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1998 Sep 28 [updated 2023 Jul 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301449 Free Books & Documents. Review.
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
Roux AF, Faugère V, Le Guédard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M; French Usher Syndrome Collaboration. Roux AF, et al. J Med Genet. 2006 Sep;43(9):763-8. doi: 10.1136/jmg.2006.041954. Epub 2006 May 5. J Med Genet. 2006. PMID: 16679490 Free PMC article.
Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia.
Ordonez J, Tekin M. Ordonez J, et al. 2012 Sep 20 [updated 2019 Apr 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2012 Sep 20 [updated 2019 Apr 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 22993869 Free Books & Documents. Review.
101 results