PubMed for id: 91207975

Year	Number of Results
1998	1
2000	4
2001	1
2002	4
2003	2
2004	6
2005	4
2006	3
2007	2
2008	3
2009	3
2010	4
2011	5
2012	1
2013	2
2014	1
2015	1
2017	1
2024	0

1

Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.

Wang R, Han S, Khan A, Zhang X. Wang R, et al. Genet Test Mol Biomarkers. 2017 May;21(5):316-321. doi: 10.1089/gtmb.2016.0328. Epub 2017 Mar 10. Genet Test Mol Biomarkers. 2017. PMID: 28281779 Free PMC article.

2

Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome.

Shu HR, Bi H, Pan YC, Xu HY, Song JX, Hu J. Shu HR, et al. BMC Med Genet. 2015 Sep 16;16:83. doi: 10.1186/s12881-015-0223-9. BMC Med Genet. 2015. PMID: 26377068 Free PMC article.

3

Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

Wei Q, Zhu H, Qian X, Chen Z, Yao J, Lu Y, Cao X, Xing G. Wei Q, et al. J Transl Med. 2014 Nov 12;12:311. doi: 10.1186/s12967-014-0311-1. J Transl Med. 2014. PMID: 25388789 Free PMC article.

4

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.

Méndez-Vidal C, González-Del Pozo M, Vela-Boza A, Santoyo-López J, López-Domingo FJ, Vázquez-Marouschek C, Dopazo J, Borrego S, Antiñolo G. Méndez-Vidal C, et al. Mol Vis. 2013 Nov 7;19:2187-95. eCollection 2013. Mol Vis. 2013. PMID: 24227914 Free PMC article.

5

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

Huang XF, Xiang P, Chen J, Xing DJ, Huang N, Min Q, Gu F, Tong Y, Pang CP, Qu J, Jin ZB. Huang XF, et al. PLoS One. 2013 May 30;8(5):e63832. doi: 10.1371/journal.pone.0063832. Print 2013. PLoS One. 2013. PMID: 23737954 Free PMC article.

6

Next-generation genetic testing for retinitis pigmentosa.

Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, Buckley MF, Kellner U, Branham KE, den Hollander AI, Hoischen A, Hoyng C, Klevering BJ, van den Born LI, Veltman JA, Cremers FP, Scheffer H. Neveling K, et al. Hum Mutat. 2012 Jun;33(6):963-72. doi: 10.1002/humu.22045. Epub 2012 Mar 19. Hum Mutat. 2012. PMID: 22334370 Free PMC article.

7

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

Garcia-Garcia G, Aparisi MJ, Jaijo T, Rodrigo R, Leon AM, Avila-Fernandez A, Blanco-Kelly F, Bernal S, Navarro R, Diaz-Llopis M, Baiget M, Ayuso C, Millan JM, Aller E. Garcia-Garcia G, et al. Orphanet J Rare Dis. 2011 Oct 17;6:65. doi: 10.1186/1750-1172-6-65. Orphanet J Rare Dis. 2011. PMID: 22004887 Free PMC article.

8

Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.

Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, Ikeda S, Kato R, Tsurusaki Y, Miyake N, Saitsu H, Sakai H, Miyatake S, Shiina M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, Matsumoto N. Doi H, et al. Am J Hum Genet. 2011 Aug 12;89(2):320-7. doi: 10.1016/j.ajhg.2011.07.012. Am J Hum Genet. 2011. PMID: 21835308 Free PMC article.

9

Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.

Xu W, Dai H, Lu T, Zhang X, Dong B, Li Y. Xu W, et al. Mol Vis. 2011;17:1537-52. Epub 2011 Jun 9. Mol Vis. 2011. PMID: 21686329 Free PMC article.

10

Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.

Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Usami S, Mizuta K, Mineta H, Minoshima S. Nakanishi H, et al. J Hum Genet. 2011 Jul;56(7):484-90. doi: 10.1038/jhg.2011.45. Epub 2011 May 19. J Hum Genet. 2011. PMID: 21593743

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