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Results: 1 to 20 of 72

1.

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.

PMID:
22574068
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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.

PMID:
22563300
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.

Schneider E, Märker T, Daser A, Frey-Mahn G, Beyer V, Farcas R, Schneider-Rätzke B, Kohlschmidt N, Grossmann B, Bauss K, Napiontek U, Keilmann A, Bartsch O, Zechner U, Wolfrum U, Haaf T.

Hum Mol Genet. 2009 Feb 15;18(4):655-66. doi: 10.1093/hmg/ddn395. Epub 2008 Nov 20.

PMID:
19028668
[PubMed - indexed for MEDLINE]
Free Article
4.

[Gene therapy in hereditary hearing loss. Future therapeutic possibility--maybe combined with stem cells].

Palmgren B, Jin Z, Rosenhall U, Duan M.

Lakartidningen. 2008 Sep 3-9;105(36):2406-10. Review. Swedish. No abstract available.

PMID:
18831451
[PubMed - indexed for MEDLINE]
5.

Usher syndrome: hearing loss with vision loss.

Friedman TB, Schultz JM, Ahmed ZM, Tsilou ET, Brewer CC.

Adv Otorhinolaryngol. 2011;70:56-65. doi: 10.1159/000322473. Epub 2011 Feb 24. Review.

PMID:
21358186
[PubMed - indexed for MEDLINE]
6.

Rescue from hearing loss in Usher's syndrome.

Avraham KB.

N Engl J Med. 2013 Oct 31;369(18):1758-60. doi: 10.1056/NEJMcibr1311048. No abstract available.

PMID:
24171523
[PubMed - indexed for MEDLINE]
7.

A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.

Hilgert N, Kahrizi K, Dieltjens N, Bazazzadegan N, Najmabadi H, Smith RJ, Van Camp G.

J Med Genet. 2009 Apr;46(4):272-6. doi: 10.1136/jmg.2008.060947.

PMID:
19357116
[PubMed - indexed for MEDLINE]
8.

Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.

Oshima A, Jaijo T, Aller E, Millan JM, Carney C, Usami S, Moller C, Kimberling WJ.

Hum Mutat. 2008 Jun;29(6):E37-46. doi: 10.1002/humu.20761.

PMID:
18429043
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.

Kalay E, de Brouwer AP, Caylan R, Nabuurs SB, Wollnik B, Karaguzel A, Heister JG, Erdol H, Cremers FP, Cremers CW, Brunner HG, Kremer H.

J Mol Med (Berl). 2005 Dec;83(12):1025-32. Epub 2005 Nov 8.

PMID:
16283141
[PubMed - indexed for MEDLINE]
10.

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.

Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millán JM, Aller E, Mitter D, Bolz H.

Hum Genet. 2007 Apr;121(2):203-11. Epub 2006 Dec 15.

PMID:
17171570
[PubMed - indexed for MEDLINE]
11.

Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome.

Ebermann I, Wilke R, Lauhoff T, Lübben D, Zrenner E, Bolz HJ.

Mol Vis. 2007 Aug 30;13:1539-47.

PMID:
17893653
[PubMed - indexed for MEDLINE]
Free Article
12.

Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome.

Aller E, Jaijo T, Beneyto M, Nájera C, Morera C, Pérez-Garrigues H, Ayuso C, Millán J.

Ophthalmic Genet. 2007 Sep;28(3):151-5.

PMID:
17896313
[PubMed - indexed for MEDLINE]
13.

Auditory and vestibular hair cell stereocilia: relationship between functionality and inner ear disease.

Ciuman RR.

J Laryngol Otol. 2011 Oct;125(10):991-1003. doi: 10.1017/S0022215111001459. Epub 2011 Jul 21. Review.

PMID:
21774850
[PubMed - indexed for MEDLINE]
14.

Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene.

Iannaccone A, Othman MI, Cantrell AD, Jennings BJ, Branham K, Swaroop A.

Adv Exp Med Biol. 2008;613:221-7. No abstract available.

PMID:
18188948
[PubMed - indexed for MEDLINE]
15.

Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1.

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

J Hum Genet. 2010 Dec;55(12):796-800. doi: 10.1038/jhg.2010.115. Epub 2010 Sep 16.

PMID:
20844544
[PubMed - indexed for MEDLINE]
16.

A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells.

Schwander M, Xiong W, Tokita J, Lelli A, Elledge HM, Kazmierczak P, Sczaniecka A, Kolatkar A, Wiltshire T, Kuhn P, Holt JR, Kachar B, Tarantino L, Müller U.

Proc Natl Acad Sci U S A. 2009 Mar 31;106(13):5252-7. doi: 10.1073/pnas.0900691106. Epub 2009 Mar 6.

PMID:
19270079
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

[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.

PMID:
22159486
[PubMed - indexed for MEDLINE]
Free Article
18.

USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.

Ahmed ZM, Riazuddin S, Khan SN, Friedman PL, Riazuddin S, Friedman TB.

Clin Genet. 2009 Jan;75(1):86-91. doi: 10.1111/j.1399-0004.2008.01038.x. Epub 2008 May 25.

PMID:
18505454
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Structures of usher syndrome 1 proteins and their complexes.

Pan L, Zhang M.

Physiology (Bethesda). 2012 Feb;27(1):25-42. doi: 10.1152/physiol.00037.2011. Review.

PMID:
22311968
[PubMed - indexed for MEDLINE]
Free Article
20.

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.

Aller E, Jaijo T, van Wijk E, Ebermann I, Kersten F, García-García G, Voesenek K, Aparisi MJ, Hoefsloot L, Cremers C, Díaz-Llopis M, Pennings R, Bolz HJ, Kremer H, Millán JM.

Mol Vis. 2010 Mar 23;16:495-500.

PMID:
20352026
[PubMed - indexed for MEDLINE]
Free PMC Article

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