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Items: 1 to 20 of 64

1.

Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.

Sorusch N, Bauß K, Plutniok J, Samanta A, Knapp B, Nagel-Wolfrum K, Wolfrum U.

Hum Mol Genet. 2017 Mar 15;26(6):1157-1172. doi: 10.1093/hmg/ddx027.

PMID:
28137943
2.

Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.

Biswas P, Duncan JL, Maranhao B, Kozak I, Branham K, Gabriel L, Lin JH, Barteselli G, Navani M, Suk J, Parke M, Schlechter C, Weleber RG, Heckenlively JR, Dagnelie G, Lee P, Riazuddin SA, Ayyagari R.

Physiol Genomics. 2017 Apr 1;49(4):216-229. doi: 10.1152/physiolgenomics.00096.2016. Epub 2017 Jan 27.

PMID:
28130426
3.

Genome-Wide Detection of Copy Number Variations in Unsolved Inherited Retinal Disease.

Huang XF, Mao JY, Huang ZQ, Rao FQ, Cheng FF, Li FF, Wang QF, Jin ZB.

Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):424-429. doi: 10.1167/iovs.16-20705.

PMID:
28118666
4.

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.

Zazo Seco C, Wesdorp M, Feenstra I, Pfundt R, Hehir-Kwa JY, Lelieveld SH, Castelein S, Gilissen C, de Wijs IJ, Admiraal RJ, Pennings RJ, Kunst HP, van de Kamp JM, Tamminga S, Houweling AC, Plomp AS, Maas SM, de Koning Gans PA, Kant SG, de Geus CM, Frints SG, Vanhoutte EK, van Dooren MF, van den Boogaard MH, Scheffer H, Nelen M, Kremer H, Hoefsloot L, Schraders M, Yntema HG.

Eur J Hum Genet. 2017 Feb;25(3):308-314. doi: 10.1038/ejhg.2016.182. Epub 2016 Dec 21.

PMID:
28000701
5.

PANRETINAL DEGENERATION ASSOCIATED WITH LONG-TERM HYDROXYCHLOROQUINE USE AND HETEROZYGOUS USH2A MUTATION.

Katsman D, Sanfilippo C, Sarraf D.

Retin Cases Brief Rep. 2017 Winter;11 Suppl 1:S77-S80. doi: 10.1097/ICB.0000000000000421.

PMID:
27632587
6.

Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome.

Abdi S, Bahloul A, Behlouli A, Hardelin JP, Makrelouf M, Boudjelida K, Louha M, Cheknene A, Belouni R, Rous Y, Merad Z, Selmane D, Hasbelaoui M, Bonnet C, Zenati A, Petit C.

PLoS One. 2016 Sep 1;11(9):e0161893. doi: 10.1371/journal.pone.0161893. eCollection 2016.

7.

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

Yan D, Tekin D, Bademci G, Foster J 2nd, Cengiz FB, Kannan-Sundhari A, Guo S, Mittal R, Zou B, Grati M, Kabahuma RI, Kameswaran M, Lasisi TJ, Adedeji WA, Lasisi AO, Menendez I, Herrera M, Carranza C, Maroofian R, Crosby AH, Bensaid M, Masmoudi S, Behnam M, Mojarrad M, Feng Y, Duman D, Mawla AM, Nord AS, Blanton SH, Liu XZ, Tekin M.

Hum Genet. 2016 Aug;135(8):953-61. doi: 10.1007/s00439-016-1697-z. Epub 2016 Jun 25.

8.

Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service.

Khan KN, Chana R, Ali N, Wright G, Webster AR, Moore AT, Michaelides M.

Clin Genet. 2017 Jan;91(1):38-45. doi: 10.1111/cge.12798. Epub 2016 Jun 30.

PMID:
27160483
9.

Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.

Huang L, Xiao X, Li S, Jia X, Wang P, Sun W, Xu Y, Xin W, Guo X, Zhang Q.

Exp Eye Res. 2016 May;146:252-8. doi: 10.1016/j.exer.2016.03.015. Epub 2016 Mar 16.

PMID:
26992781
10.

Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.

Pierrache LH, Hartel BP, van Wijk E, Meester-Smoor MA, Cremers FP, de Baere E, de Zaeytijd J, van Schooneveld MJ, Cremers CW, Dagnelie G, Hoyng CB, Bergen AA, Leroy BP, Pennings RJ, van den Born LI, Klaver CC.

Ophthalmology. 2016 May;123(5):1151-60. doi: 10.1016/j.ophtha.2016.01.021. Epub 2016 Feb 27.

PMID:
26927203
11.

Detecting signatures of positive selection associated with musical aptitude in the human genome.

Liu X, Kanduri C, Oikkonen J, Karma K, Raijas P, Ukkola-Vuoti L, Teo YY, Järvelä I.

Sci Rep. 2016 Feb 16;6:21198. doi: 10.1038/srep21198.

12.

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.

Perez-Carro R, Corton M, Sánchez-Navarro I, Zurita O, Sanchez-Bolivar N, Sánchez-Alcudia R, Lelieveld SH, Aller E, Lopez-Martinez MA, López-Molina MI, Fernandez-San Jose P, Blanco-Kelly F, Riveiro-Alvarez R, Gilissen C, Millan JM, Avila-Fernandez A, Ayuso C.

Sci Rep. 2016 Jan 25;6:19531. doi: 10.1038/srep19531. Erratum in: Sci Rep. 2016 Apr 22;6:24843.

13.

Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations.

Liquori A, Vaché C, Baux D, Blanchet C, Hamel C, Malcolm S, Koenig M, Claustres M, Roux AF.

Hum Mutat. 2016 Feb;37(2):184-93. doi: 10.1002/humu.22926. Epub 2015 Nov 23.

PMID:
26629787
14.

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.

BMC Med Genet. 2015 Sep 16;16:83. doi: 10.1186/s12881-015-0223-9.

15.

Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.

Maranhao B, Biswas P, Gottsch AD, Navani M, Naeem MA, Suk J, Chu J, Khan SN, Poleman R, Akram J, Riazuddin S, Lee P, Riazuddin SA, Hejtmancik JF, Ayyagari R.

PLoS One. 2015 Sep 9;10(9):e0136561. doi: 10.1371/journal.pone.0136561. eCollection 2015.

16.

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R.

Orphanet J Rare Dis. 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3.

17.

Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family.

Zheng SL, Zhang HL, Lin ZL, Kang QY.

Int J Mol Med. 2015 Oct;36(4):1035-41. doi: 10.3892/ijmm.2015.2322. Epub 2015 Aug 24.

18.

Whole-exome sequencing revealed two novel mutations in Usher syndrome.

Koparir A, Karatas OF, Atayoglu AT, Yuksel B, Sagiroglu MS, Seven M, Ulucan H, Yuksel A, Ozen M.

Gene. 2015 Jun 1;563(2):215-8. doi: 10.1016/j.gene.2015.03.060. Epub 2015 Mar 30.

PMID:
25834954
19.

Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.

Pozo MG, Bravo-Gil N, Méndez-Vidal C, Montero-de-Espinosa I, Millán JM, Dopazo J, Borrego S, Antiñolo G.

Am J Med Genet A. 2015 Jul;167(7):1597-600. doi: 10.1002/ajmg.a.37003. Epub 2015 Mar 30.

PMID:
25823529
20.

Partial USH2A deletions contribute to Usher syndrome in Denmark.

Dad S, Rendtorff ND, Kann E, Albrechtsen A, Mehrjouy MM, Bak M, Tommerup N, Tranebjærg L, Rosenberg T, Jensen H, Møller LB.

Eur J Hum Genet. 2015 Dec;23(12):1646-51. doi: 10.1038/ejhg.2015.54. Epub 2015 Mar 25. Erratum in: Eur J Hum Genet. 2015 Dec;23(12):1750.

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