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Items: 1 to 20 of 113

1.

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.

2.

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
3.

Deafness genes in Israel: implications for diagnostics in the clinic.

Brownstein Z, Avraham KB.

Pediatr Res. 2009 Aug;66(2):128-34. doi: 10.1203/PDR.0b013e3181aabd7f. Review.

PMID:
19390476
4.

Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F.

Ammar-Khodja F, Faugère V, Baux D, Giannesini C, Léonard S, Makrelouf M, Malek R, Djennaoui D, Zenati A, Claustres M, Roux AF.

Eur J Med Genet. 2009 Jul-Aug;52(4):174-9. doi: 10.1016/j.ejmg.2009.03.018. Epub 2009 Apr 16.

PMID:
19375528
5.

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
6.

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
7.

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.

8.

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.

9.

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.

10.

An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis.

Yoshimura H, Iwasaki S, Kanda Y, Nakanishi H, Murata T, Iwasa Y, Nishio SY, Takumi Y, Usami S.

Int J Pediatr Otorhinolaryngol. 2013 Feb;77(2):298-302. doi: 10.1016/j.ijporl.2012.11.007. Epub 2012 Dec 11.

PMID:
23237960
11.

Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.

Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K, Matsunaga T.

Orphanet J Rare Dis. 2013 Oct 28;8:172. doi: 10.1186/1750-1172-8-172.

12.

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
13.

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

Jaijo T, Aller E, García-García G, Aparisi MJ, Bernal S, Avila-Fernández A, Barragán I, Baiget M, Ayuso C, Antiñolo G, Díaz-Llopis M, Külm M, Beneyto M, Nájera C, Millán JM.

Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1311-7. doi: 10.1167/iovs.09-4085. Epub 2009 Aug 13.

PMID:
19683999
14.

Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.

Lenarduzzi S, Vozzi D, Morgan A, Rubinato E, D'Eustacchio A, Osland TM, Rossi C, Graziano C, Castorina P, Ambrosetti U, Morgutti M, Girotto G.

Hear Res. 2015 Feb;320:18-23. doi: 10.1016/j.heares.2014.12.006. Epub 2015 Jan 6.

PMID:
25575603
15.

Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness.

Norris VW, Arnos KS, Hanks WD, Xia X, Nance WE, Pandya A.

Ear Hear. 2006 Dec;27(6):732-41.

PMID:
17086082
16.

The prevalence of the 235delC GJB2 mutation in a Chinese deaf population.

Dai P, Yu F, Han B, Yuan Y, Li Q, Wang G, Liu X, He J, Huang D, Kang D, Zhang X, Yuan H, Schmitt E, Han D, Wong LJ.

Genet Med. 2007 May;9(5):283-9.

PMID:
17505205
17.

Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family.

Zong L, Chen K, Wu X, Liu M, Jiang H.

Int J Pediatr Otorhinolaryngol. 2016 Nov;90:150-155. doi: 10.1016/j.ijporl.2016.09.010. Epub 2016 Sep 12.

PMID:
27729122
18.

Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I.

Zhou Q, Lenger C, Smith R, Kimberling WJ, Ye M, Lehmann O, MacDonald I.

Mol Vis. 2012;18:1379-83. Epub 2012 May 31.

19.

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.

20.

Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss.

Shahzad M, Sivakumaran TA, Qaiser TA, Schultz JM, Hussain Z, Flanagan M, Bhinder MA, Kissell D, Greinwald JH Jr, Khan SN, Friedman TB, Zhang K, Riazuddin S, Riazuddin S, Ahmed ZM.

Otolaryngol Head Neck Surg. 2013 Sep;149(3):478-87. doi: 10.1177/0194599813493075. Epub 2013 Jun 14.

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