Literature DB >> 8160750

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium.

R J Smith1, C I Berlin, J F Hejtmancik, B J Keats, W J Kimberling, R A Lewis, C G Möller, M Z Pelias, L Tranebjaerg.   

Abstract

The Usher syndromes are genetically distinct disorders which share specific phenotypic characteristics. This paper describes a set of clinical criteria recommended for the diagnosis of Usher syndrome type I and Usher syndrome type II. These criteria have been adopted by the Usher Syndrome Consortium and are used in studies reported by members of this Consortium.

Entities:  

Mesh：

Year:  1994        PMID： 8160750     DOI： 10.1002/ajmg.1320500107

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  102 in total

1.  Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortion.

Authors:  M C Lanasa; W A Hogge; C Kubik; J Blancato; E P Hoffman
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

Review 2.  The Finnish Disease Heritage III: the individual diseases.

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

Review 3.  The many different cellular functions of MYO7A in the retina.

Authors:  David S Williams; Vanda S Lopes
Journal:  Biochem Soc Trans       Date:  2011-10       Impact factor: 5.407

4.  Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

Authors:  J M Bork; L M Peters; S Riazuddin; S L Bernstein; Z M Ahmed; S L Ness; R Polomeno; A Ramesh; M Schloss; C R Srisailpathy; S Wayne; S Bellman; D Desmukh; Z Ahmed; S N Khan; V M Kaloustian; X C Li; A Lalwani; S Riazuddin; M Bitner-Glindzicz; W E Nance; X Z Liu; G Wistow; R J Smith; A J Griffith; E R Wilcox; T B Friedman; R J Morell
Journal:  Am J Hum Genet       Date:  2000-11-21       Impact factor: 11.025

Review 5.  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

6.  Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

Authors:  E Aller; T Jaijo; M Beneyto; C Nájera; S Oltra; C Ayuso; M Baiget; M Carballo; G Antiñolo; D Valverde; F Moreno; C Vilela; D Collado; H Pérez-Garrigues; A Navea; J M Millán
Journal:  J Med Genet       Date:  2006-11       Impact factor: 6.318

7.  Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.

Authors:  P Gasparini; A De Fazio; A I Croce; P Stanziale; L Zelante
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

8.  Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss.

Authors:  Heather A Stiff; Christina M Sloan-Heggen; Ashley Ko; Wanda L Pfeifer; Diana L Kolbe; Carla J Nishimura; Kathy L Frees; Kevin T Booth; Donghong Wang; Amy E Weaver; Hela Azaiez; John Kamholz; Richard J H Smith; Arlene V Drack
Journal:  Ophthalmic Genet       Date:  2020-04-13       Impact factor: 1.803

9.  Photoreceptors in whirler mice show defective transducin translocation and are susceptible to short-term light/dark changes-induced degeneration.

Authors:  Mei Tian; Weimin Wang; Duane Delimont; Linda Cheung; Marisa Zallocchi; Dominic Cosgrove; You-Wei Peng
Journal:  Exp Eye Res       Date:  2013-11-07       Impact factor: 3.467

10.  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
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.