Literature DB >> 454290

Usher's syndrome type III.

R J Gorlin, T J Tilsner, S Feinstein, A J Duvall.   

Abstract

We describe a rare example of Usher's syndrome type III in a 9-year-old boy. This type is characterized by retinitis pigmentosa and progressive sensorineural deafness.

Entities:  

Mesh：

Year:  1979        PMID： 454290     DOI： 10.1001/archotol.1979.00790180051011

Source DB:  PubMed          Journal:  Arch Otolaryngol        ISSN： 0003-9977


  11 in total

Review 1.  The Finnish Disease Heritage III: the individual diseases.

Authors:  Reijo Norio
Journal:  Hum Genet       Date:  2003-03-08       Impact factor: 4.132

2.  Ophthalmic Abnormalities among Children Treated with Cochlear Implants.

Authors:  Ziya Ayhan; Serpil Mungan Durankaya; Gül Arıkan; Günay Kırkım; Aslı Çakır Çetin; Yüksel Olgun; Üzeyir Günenç; Enis Alpin Güneri
Journal:  J Int Adv Otol       Date:  2020-12       Impact factor: 1.017

Review 3.  Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.

Authors:  John D Gettelfinger; John P Dahl
Journal:  J Pediatr Genet       Date:  2018-01-04

4.  Genetic heterogeneity of Usher syndrome type II.

Authors:  S Pieke Dahl; W J Kimberling; M B Gorin; M D Weston; J M Furman; A Pikus; C Möller
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

5.  Early diagnosis of Usher syndrome in children.

Authors:  M B Mets; N M Young; A Pass; J B Lasky
Journal:  Trans Am Ophthalmol Soc       Date:  2000

6.  Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type I reported at human chromosome 11p15.

Authors:  J R Heckenlively; B Chang; L C Erway; C Peng; N L Hawes; G S Hageman; T H Roderick
Journal:  Proc Natl Acad Sci U S A       Date:  1995-11-21       Impact factor: 11.205

7.  Linkage analysis in Usher syndrome type I (USH1) families from Spain.

Authors:  C Espinós; C Nájera; J M Millán; C Ayuso; M Baiget; H Pérez-Garrigues; O Rodrigo; C Vilela; M Beneyto
Journal:  J Med Genet       Date:  1998-05       Impact factor: 6.318

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.  Retinitis pigmentosa and deafness.

Authors:  R P Mills; D M Calver
Journal:  J R Soc Med       Date:  1987-01       Impact factor: 18.000

10.  Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.

Authors:  Chiara M Eandi; Laura Dallorto; Roberta Spinetta; Maria Pia Micieli; Mario Vanzetti; Alessandro Mariottini; Ilaria Passerini; Francesca Torricelli; Camilla Alovisi; Cristiana Marchese
Journal:  Sci Rep       Date:  2017-11-15       Impact factor: 4.379
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