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Items: 1 to 20 of 130

1.

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.

Imtiaz F, Taibah K, Bin-Khamis G, Kennedy S, Hemidan A, Al-Qahtani F, Tabbara K, Al Mubarak B, Ramzan K, Meyer BF, Al-Owain M.

Mol Vis. 2012;18:1885-94. Epub 2012 Jul 12.

2.

Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.

Rizel L, Safieh C, Shalev SA, Mezer E, Jabaly-Habib H, Ben-Neriah Z, Chervinsky E, Briscoe D, Ben-Yosef T.

Mol Vis. 2011;17:3548-55. Epub 2011 Dec 30.

3.

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

Audo I, Bujakowska K, Mohand-Saïd S, Tronche S, Lancelot ME, Antonio A, Germain A, Lonjou C, Carpentier W, Sahel JA, Bhattacharya S, Zeitz C.

Mol Vis. 2011;17:1598-606. Epub 2011 Jun 15.

4.

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.

Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ.

Hum Mutat. 2007 Jun;28(6):571-7.

PMID:
17301963
5.

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.

J Med Genet. 2006 Sep;43(9):763-8. Epub 2006 May 5.

6.

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
7.

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
8.

A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen.

Paun CC, Pijl BJ, Siemiatkowska AM, Collin RW, Cremers FP, Hoyng CB, den Hollander AI.

Mol Vis. 2012;18:2447-53. Epub 2012 Oct 4.

9.

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
10.

A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.

Mustapha M, Chouery E, Torchard-Pagnez D, Nouaille S, Khrais A, Sayegh FN, Mégarbané A, Loiselet J, Lathrop M, Petit C, Weil D.

Hum Genet. 2002 Apr;110(4):348-50. Epub 2002 Mar 12.

PMID:
11941484
11.

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.

Mol Vis. 2010 Dec 31;16:2948-54.

12.
13.

A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.

Cohen B, Chervinsky E, Jabaly-Habib H, Shalev SA, Briscoe D, Ben-Yosef T.

Mol Vis. 2012;18:2915-21. Epub 2012 Dec 1.

14.

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
15.

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

Schultz JM, Bhatti R, Madeo AC, Turriff A, Muskett JA, Zalewski CK, King KA, Ahmed ZM, Riazuddin S, Ahmad N, Hussain Z, Qasim M, Kahn SN, Meltzer MR, Liu XZ, Munisamy M, Ghosh M, Rehm HL, Tsilou ET, Griffith AJ, Zein WM, Brewer CC, Riazuddin S, Friedman TB.

J Med Genet. 2011 Nov;48(11):767-75. doi: 10.1136/jmedgenet-2011-100262. Epub 2011 Sep 22.

PMID:
21940737
16.

Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.

Yoshimura H, Iwasaki S, Nishio SY, Kumakawa K, Tono T, Kobayashi Y, Sato H, Nagai K, Ishikawa K, Ikezono T, Naito Y, Fukushima K, Oshikawa C, Kimitsuki T, Nakanishi H, Usami S.

PLoS One. 2014 Mar 11;9(3):e90688. doi: 10.1371/journal.pone.0090688. eCollection 2014.

17.

Identification of a novel locus for a USH3 like syndrome combined with congenital cataract.

Dad S, Østergaard E, Thykjaer T, Albrectsen A, Ravn K, Rosenberg T, Møller LB.

Clin Genet. 2010 Oct;78(4):388-97. doi: 10.1111/j.1399-0004.2010.01393.x.

PMID:
20236115
18.

Cochlear implantation in individuals with Usher type 1 syndrome.

Liu XZ, Angeli SI, Rajput K, Yan D, Hodges AV, Eshraghi A, Telischi FF, Balkany TJ.

Int J Pediatr Otorhinolaryngol. 2008 Jun;72(6):841-7. doi: 10.1016/j.ijporl.2008.02.013. Epub 2008 Apr 18.

PMID:
18395802
19.

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.

Eisenberger T, Slim R, Mansour A, Nauck M, Nürnberg G, Nürnberg P, Decker C, Dafinger C, Ebermann I, Bergmann C, Bolz HJ.

Orphanet J Rare Dis. 2012 Sep 2;7:59. doi: 10.1186/1750-1172-7-59.

20.

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

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