Literature DB >> 7769945

Usher's syndrome type 3 in Finland.

L Pakarinen1, S Karjalainen, K O Simola, P Laippala, H Kaitalo.   

Abstract

Usher's syndrome, type 3 (USH3) is characterized by progressive hearing loss. Usher's syndrome, type 3 has been supposed to be rare, occurring in 2% to 4% of all patients with Usher's syndrome. In a nationwide study we collected data on 229 patients with Usher's syndrome in Finland. Definite cases of USH3 were found in 30 (13%) of the 229 patients. An additional 61 patients had clinical evidence of earlier progression of their hearing impairment. We suggest that 91 (40%) of the 229 patients with Usher's syndrome represent cases of USH3.

Entities:  

Mesh：

Year:  1995        PMID： 7769945     DOI： 10.1288/00005537-199506000-00010

Source DB:  PubMed          Journal:  Laryngoscope        ISSN： 0023-852X            Impact factor:   3.325


  18 in total

1.  Usher syndrome in the city of Birmingham--prevalence and clinical classification.

Authors:  C I Hope; S Bundey; D Proops; A R Fielder
Journal:  Br J Ophthalmol       Date:  1997-01       Impact factor: 4.638

Review 2.  Genetics and pathological mechanisms of Usher syndrome.

Authors:  Denise Yan; Xue Z Liu
Journal:  J Hum Genet       Date:  2010-04-09       Impact factor: 3.172

3.  Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

Authors:  Terri L McGee; Babak Jian Seyedahmadi; Meredith O Sweeney; Thaddeus P Dryja; Eliot L Berson
Journal:  J Med Genet       Date:  2010-05-27       Impact factor: 6.318

4.  Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.

Authors:  Mounira Hmani-Aifa; Zeineb Benzina; Fareeha Zulfiqar; Houria Dhouib; Amber Shahzadi; Abdelmonem Ghorbel; Ahmed Rebaï; Peter Söderkvist; Sheikh Riazuddin; William J Kimberling; Hammadi Ayadi
Journal:  Eur J Hum Genet       Date:  2008-10-15       Impact factor: 4.246

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

Authors:  Denise Yan; Xiaomei Ouyang; D Michael Patterson; Li Lin Du; Samuel G Jacobson; Xue-Zhong Liu
Journal:  J Hum Genet       Date:  2009-10-30       Impact factor: 3.172

6.  Cone structure in patients with usher syndrome type III and mutations in the Clarin 1 gene.

Authors:  Kavitha Ratnam; Hanna Västinsalo; Austin Roorda; Eeva-Marja K Sankila; Jacque L Duncan
Journal:  JAMA Ophthalmol       Date:  2013-01       Impact factor: 7.389

7.  Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.

Authors:  Erwin van Wijk; Ronald J E Pennings; Heleen te Brinke; Annemarie Claassen; Helger G Yntema; Lies H Hoefsloot; Frans P M Cremers; Cor W R J Cremers; Hannie Kremer
Journal:  Am J Hum Genet       Date:  2004-03-10       Impact factor: 11.025

Review 8.  Atypical and ultra-rare Usher syndrome: a review.

Authors:  Rosalie M Nolen; Robert B Hufnagel; Thomas B Friedman; Amy E Turriff; Carmen C Brewer; Christopher K Zalewski; Kelly A King; Talah T Wafa; Andrew J Griffith; Brian P Brooks; Wadih M Zein
Journal:  Ophthalmic Genet       Date:  2020-05-06       Impact factor: 1.803

9.  Zebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein.

Authors:  Suhasini R Gopal; Daniel H-C Chen; Shih-Wei Chou; Jingjing Zang; Stephan C F Neuhauss; Ruben Stepanyan; Brian M McDermott; Kumar N Alagramam
Journal:  J Neurosci       Date:  2015-07-15       Impact factor: 6.167

Review 10.  Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches.

Authors:  Azmi Marouf; Benjamin Johnson; Kumar N Alagramam
Journal:  Hum Genet       Date:  2022-03-23       Impact factor: 4.132
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