Literature DB >> 34480642

Genetic hearing loss: the audiologist's perspective.

Carmen C Brewer1, Kelly A King2.   

Abstract

As knowledge regarding the genetic underpinnings of hearing loss has rapidly evolved, the role of the clinician in managing the patient has expanded beyond that of defining the characteristics of the auditory phenotype. The importance and impact of a genetic diagnosis has yet to be fully realized in routine clinical care. However, audiologists are uniquely situated to be front-line healthcare providers for persons of all ages with hereditary hearing loss. Here, we discuss why the combination of genotype and phenotype are necessary for the delivery of personalized and effective clinical care for individuals with genetic hearing loss.
© 2021. This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply.

Entities:  

Mesh：

Year:  2021        PMID： 34480642      PMCID： PMC8894500          DOI： 10.1007/s00439-021-02360-6

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   5.881


  13 in total

1.  Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.

Authors:  D P Kelsell; J Dunlop; H P Stevens; N J Lench; J N Liang; G Parry; R F Mueller; I M Leigh
Journal:  Nature       Date:  1997-05-01       Impact factor: 49.962

Review 2.  Usher syndrome: hearing loss with vision loss.

Authors:  Thomas B Friedman; Julie M Schultz; Zubair M Ahmed; Ekaterini T Tsilou; Carmen C Brewer
Journal:  Adv Otorhinolaryngol       Date:  2011-02-24

Review 3.  Gene therapy for hearing loss.

Authors:  Ryotaro Omichi; Seiji B Shibata; Cynthia C Morton; Richard J H Smith
Journal:  Hum Mol Genet       Date:  2019-10-01       Impact factor: 6.150

4.  NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy.

Authors:  Hiroshi Nakanishi; Yoshiyuki Kawashima; Kiyoto Kurima; Jae Jin Chae; Astin M Ross; Gineth Pinto-Patarroyo; Seema K Patel; Julie A Muskett; Jessica S Ratay; Parna Chattaraj; Yong Hwan Park; Sriharsha Grevich; Carmen C Brewer; Michael Hoa; H Jeffrey Kim; John A Butman; Lori Broderick; Hal M Hoffman; Ivona Aksentijevich; Daniel L Kastner; Raphaela Goldbach-Mansky; Andrew J Griffith
Journal:  Proc Natl Acad Sci U S A       Date:  2017-08-28       Impact factor: 11.205

Review 5.  GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype.

Authors:  Dylan K Chan; Kay W Chang
Journal:  Laryngoscope       Date:  2013-10-08       Impact factor: 3.325

6.  GJB2 mutations and degree of hearing loss: a multicenter study.

Authors:  Rikkert L Snoeckx; Patrick L M Huygen; Delphine Feldmann; Sandrine Marlin; Françoise Denoyelle; Jaroslaw Waligora; Malgorzata Mueller-Malesinska; Agneszka Pollak; Rafal Ploski; Alessandra Murgia; Eva Orzan; Pierangela Castorina; Umberto Ambrosetti; Ewa Nowakowska-Szyrwinska; Jerzy Bal; Wojciech Wiszniewski; Andreas R Janecke; Doris Nekahm-Heis; Pavel Seeman; Olga Bendova; Margaret A Kenna; Anna Frangulov; Heidi L Rehm; Mustafa Tekin; Armagan Incesulu; Hans-Henrik M Dahl; Desirée du Sart; Lucy Jenkins; Deirdre Lucas; Maria Bitner-Glindzicz; Karen B Avraham; Zippora Brownstein; Ignacio del Castillo; Felipe Moreno; Nikolaus Blin; Markus Pfister; Istvan Sziklai; Timea Toth; Philip M Kelley; Edward S Cohn; Lionel Van Maldergem; Pascale Hilbert; Anne-Françoise Roux; Michel Mondain; Lies H Hoefsloot; Cor W R J Cremers; Tuija Löppönen; Heikki Löppönen; Agnete Parving; Karen Gronskov; Iris Schrijver; Joseph Roberson; Francesca Gualandi; Alessandro Martini; Geneviéve Lina-Granade; Nathalie Pallares-Ruiz; Céu Correia; Graça Fialho; Kim Cryns; Nele Hilgert; Paul Van de Heyning; Carla J Nishimura; Richard J H Smith; Guy Van Camp
Journal:  Am J Hum Genet       Date:  2005-10-19       Impact factor: 11.025

7.  Language Outcomes in Young Children with Mild to Severe Hearing Loss.

Authors:  J Bruce Tomblin; Melody Harrison; Sophie E Ambrose; Elizabeth A Walker; Jacob J Oleson; Mary Pat Moeller
Journal:  Ear Hear       Date:  2015 Nov-Dec       Impact factor: 3.570

8.  Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.

Authors:  Mariam B Totonchy; Deborah Tamura; Matthew S Pantell; Christopher Zalewski; Porcia T Bradford; Saumil N Merchant; Joseph Nadol; Sikandar G Khan; Raphael Schiffmann; Tyler Mark Pierson; Edythe Wiggs; Andrew J Griffith; John J DiGiovanna; Kenneth H Kraemer; Carmen C Brewer
Journal:  Brain       Date:  2013-01       Impact factor: 13.501

9.  Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.

Authors:  Talah T Wafa; Rabia Faridi; Kelly A King; Christopher Zalewski; Rizwan Yousaf; Julie M Schultz; Robert J Morell; Julie Muskett; Amy Turriff; Ekaterini Tsilou; Andrew J Griffith; Thomas B Friedman; Wadih M Zein; Carmen C Brewer
Journal:  Clin Genet       Date:  2020-11-03       Impact factor: 4.438

Review 10.  GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.

Authors:  Aileen Kenneson; Kim Van Naarden Braun; Coleen Boyle
Journal:  Genet Med       Date:  2002 Jul-Aug       Impact factor: 8.822
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.