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Items: 1 to 20 of 93

1.

A genetic basis for mechanosensory traits in humans.

Frenzel H, Bohlender J, Pinsker K, Wohlleben B, Tank J, Lechner SG, Schiska D, Jaijo T, Rüschendorf F, Saar K, Jordan J, Millán JM, Gross M, Lewin GR.

PLoS Biol. 2012;10(5):e1001318. doi: 10.1371/journal.pbio.1001318. Epub 2012 May 1.

2.

Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients.

Blanco-Kelly F, Jaijo T, Aller E, Avila-Fernandez A, López-Molina MI, Giménez A, García-Sandoval B, Millán JM, Ayuso C.

JAMA Ophthalmol. 2015 Feb;133(2):157-64. doi: 10.1001/jamaophthalmol.2014.4498.

PMID:
25375654
3.

Hear less, feel less: one mutation causes loss of two senses.

Robinson R.

PLoS Biol. 2012 May;10(5):e1001322. doi: 10.1371/journal.pbio.1001322. Epub 2012 May 1. No abstract available.

4.

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.

Steele-Stallard HB, Le Quesne Stabej P, Lenassi E, Luxon LM, Claustres M, Roux AF, Webster AR, Bitner-Glindzicz M.

Orphanet J Rare Dis. 2013 Aug 8;8:122. doi: 10.1186/1750-1172-8-122.

5.
6.

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

Dreyer B, Brox V, Tranebjaerg L, Rosenberg T, Sadeghi AM, Möller C, Nilssen O.

Hum Mutat. 2008 Mar;29(3):451. doi: 10.1002/humu.9524.

PMID:
18273898
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.

Orphanet J Rare Dis. 2011 Oct 17;6:65. doi: 10.1186/1750-1172-6-65.

8.

Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

Yan D, Ouyang X, Patterson DM, Du LL, Jacobson SG, Liu XZ.

J Hum Genet. 2009 Dec;54(12):732-8. doi: 10.1038/jhg.2009.107. Epub 2009 Oct 30.

9.

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.

Reiners J, Nagel-Wolfrum K, Jürgens K, Märker T, Wolfrum U.

Exp Eye Res. 2006 Jul;83(1):97-119. Epub 2006 Mar 20. Review.

PMID:
16545802
10.

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

Lenassi E, Vincent A, Li Z, Saihan Z, Coffey AJ, Steele-Stallard HB, Moore AT, Steel KP, Luxon LM, Héon E, Bitner-Glindzicz M, Webster AR.

Eur J Hum Genet. 2015 Oct;23(10):1318-27. doi: 10.1038/ejhg.2014.283. Epub 2015 Feb 4.

11.

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

Kimberling WJ, Hildebrand MS, Shearer AE, Jensen ML, Halder JA, Trzupek K, Cohn ES, Weleber RG, Stone EM, Smith RJ.

Genet Med. 2010 Aug;12(8):512-6. doi: 10.1097/GIM.0b013e3181e5afb8.

12.

Expressivity of hearing loss in cases with Usher syndrome type IIA.

Sadeghi AM, Cohn ES, Kimberling WJ, Halvarsson G, Möller C.

Int J Audiol. 2013 Dec;52(12):832-7. doi: 10.3109/14992027.2013.839885. Epub 2013 Oct 28.

PMID:
24160897
13.

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.

Ebermann I, Phillips JB, Liebau MC, Koenekoop RK, Schermer B, Lopez I, Schäfer E, Roux AF, Dafinger C, Bernd A, Zrenner E, Claustres M, Blanco B, Nürnberg G, Nürnberg P, Ruland R, Westerfield M, Benzing T, Bolz HJ.

J Clin Invest. 2010 Jun;120(6):1812-23. doi: 10.1172/JCI39715. Epub 2010 May 3.

14.

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

Aller E, Jaijo T, Beneyto M, Nájera C, Oltra S, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Collado D, Pérez-Garrigues H, Navea A, Millán JM.

J Med Genet. 2006 Nov;43(11):e55.

15.

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.

Baux D, Faugère V, Larrieu L, Le Guédard-Méreuze S, Hamroun D, Béroud C, Malcolm S, Claustres M, Roux AF.

Hum Mutat. 2008 Aug;29(8):E76-87. doi: 10.1002/humu.20780.

PMID:
18484607
16.

Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.

Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Mizuta K, Mineta H, Minoshima S.

Clin Genet. 2009 Oct;76(4):383-91. doi: 10.1111/j.1399-0004.2009.01257.x. Epub 2009 Sep 8.

PMID:
19737284
17.

Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

Dai H, Zhang X, Zhao X, Deng T, Dong B, Wang J, Li Y.

Mol Vis. 2008;14:2067-75. Epub 2008 Nov 17.

18.

[Mutational frequencies in usherin(USH2A gene) in 26 Colombian individuals with Usher syndrome type II].

López G, Gelvez NY, Tamayo M.

Biomedica. 2011 Mar;31(1):82-90. doi: 10.1590/S0120-41572011000100010. Spanish.

19.

Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.

Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N.

Invest Ophthalmol Vis Sci. 2014 Oct 16;55(11):7369-75. doi: 10.1167/iovs.14-15458.

PMID:
25324289
20.

Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.

Liu X, Tang Z, Li C, Yang K, Gan G, Zhang Z, Liu J, Jiang F, Wang Q, Liu M.

Mol Vis. 2010 Mar 17;16:454-61.

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