Literature DB >> 32434306

The Era of Precision Medicine: Reshaping Usher Syndrome.

Jinsei Jung1.   

Abstract

Entities:  

Year:  2020        PMID： 32434306      PMCID： PMC7248599          DOI： 10.21053/ceo.2019.02117

Source DB:  PubMed          Journal:  Clin Exp Otorhinolaryngol        ISSN： 1976-8710            Impact factor:   3.372


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  9 in total

Review 1.  Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches.

Authors:  Crystel Bonnet; Aziz El-Amraoui
Journal:  Curr Opin Neurol       Date:  2012-02       Impact factor: 5.710

2.  Usher syndrome: definition and estimate of prevalence from two high-risk populations.

Authors:  J A Boughman; M Vernon; K A Shaver
Journal:  J Chronic Dis       Date:  1983

3.  A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

Authors:  Bas P Hartel; Maria Löfgren; Patrick L M Huygen; Iris Guchelaar; Nicole Lo-A-Njoe Kort; Andre M Sadeghi; Erwin van Wijk; Lisbeth Tranebjærg; Hannie Kremer; William J Kimberling; Cor W R J Cremers; Claes Möller; Ronald J E Pennings
Journal:  Hear Res       Date:  2016-06-16       Impact factor: 3.208

4.  Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

Authors:  William J Kimberling; Michael S Hildebrand; A Eliot Shearer; Maren L Jensen; Jennifer A Halder; Karmen Trzupek; Edward S Cohn; Richard G Weleber; Edwin M Stone; Richard J H Smith
Journal:  Genet Med       Date:  2010-08       Impact factor: 8.822

5.  Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome.

Authors:  Kevin Isgrig; Jack W Shteamer; Inna A Belyantseva; Meghan C Drummond; Tracy S Fitzgerald; Sarath Vijayakumar; Sherri M Jones; Andrew J Griffith; Thomas B Friedman; Lisa L Cunningham; Wade W Chien
Journal:  Mol Ther       Date:  2017-02-21       Impact factor: 11.454

6.  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

7.  Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c.

Authors:  Bifeng Pan; Charles Askew; Alice Galvin; Selena Heman-Ackah; Yukako Asai; Artur A Indzhykulian; Francine M Jodelka; Michelle L Hastings; Jennifer J Lentz; Luk H Vandenberghe; Jeffrey R Holt; Gwenaëlle S Géléoc
Journal:  Nat Biotechnol       Date:  2017-02-06       Impact factor: 54.908

8.  Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness.

Authors:  Jennifer J Lentz; Francine M Jodelka; Anthony J Hinrich; Kate E McCaffrey; Hamilton E Farris; Matthew J Spalitta; Nicolas G Bazan; Dominik M Duelli; Frank Rigo; Michelle L Hastings
Journal:  Nat Med       Date:  2013-02-04       Impact factor: 53.440

9.  Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation.

Authors:  Sang-Yeon Lee; Kwangsic Joo; Jayoung Oh; Jin Hee Han; Hye-Rim Park; Seungmin Lee; Doo-Yi Oh; Se Joon Woo; Byung Yoon Choi
Journal:  Clin Exp Otorhinolaryngol       Date:  2019-11-02       Impact factor: 3.372
  9 in total

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