Literature DB >> 26443487

Genetics of Hearing Loss: Syndromic.

Tal Koffler1, Kathy Ushakov1, Karen B Avraham2.   

Abstract

Hearing loss (HL) is one of the most common birth defects in developed countries and is a diverse pathologic condition with different classifications. One of these is based on the association with other clinical features, defined as syndromic hearing loss (SHL). Determining the cause of the HL in these patients is extremely beneficial as it enables a personalized approach to caring for the individual. Early screening can further aid in optimal rehabilitation for a child's development and growth. The advancement of high-throughput sequencing technology is facilitating rapid and low-cost diagnostics for patients with SHL.
Copyright © 2015 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Deafness; Genetics; Genome; Hearing loss; Sequencing

Mesh：

Substances：

Year:  2015        PMID： 26443487      PMCID： PMC4641804          DOI： 10.1016/j.otc.2015.07.007

Source DB:  PubMed          Journal:  Otolaryngol Clin North Am        ISSN： 0030-6665            Impact factor:   3.346


  104 in total

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Journal:  Hum Mol Genet       Date:  2001-01-15       Impact factor: 6.150

4.  SOX10 mutations in patients with Waardenburg-Hirschsprung disease.

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Journal:  Nat Genet       Date:  1998-02       Impact factor: 38.330

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Journal:  Nat Genet       Date:  1997-06       Impact factor: 38.330

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Journal:  ASHA       Date:  1981-07

7.  Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.

Authors:  Carol Jean Saunders; Neil Andrew Miller; Sarah Elizabeth Soden; Darrell Lee Dinwiddie; Aaron Noll; Noor Abu Alnadi; Nevene Andraws; Melanie LeAnn Patterson; Lisa Ann Krivohlavek; Joel Fellis; Sean Humphray; Peter Saffrey; Zoya Kingsbury; Jacqueline Claire Weir; Jason Betley; Russell James Grocock; Elliott Harrison Margulies; Emily Gwendolyn Farrow; Michael Artman; Nicole Pauline Safina; Joshua Erin Petrikin; Kevin Peter Hall; Stephen Francis Kingsmore
Journal:  Sci Transl Med       Date:  2012-10-03       Impact factor: 17.956

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Review 9.  Genetic screening for hearing loss.

Authors:  S W Hone; R J H Smith
Journal:  Clin Otolaryngol Allied Sci       Date:  2003-08

10.  Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.

Authors:  Zied Riahi; Crystel Bonnet; Rim Zainine; Saida Lahbib; Yosra Bouyacoub; Rym Bechraoui; Jihène Marrakchi; Jean-Pierre Hardelin; Malek Louha; Leila Largueche; Salim Ben Yahia; Moncef Kheirallah; Leila Elmatri; Ghazi Besbes; Sonia Abdelhak; Christine Petit
Journal:  PLoS One       Date:  2015-03-23       Impact factor: 3.240
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  31 in total

1.  Special issues for the 55th Inner Ear Biology Workshop 06.-08.09.2018 in Berlin : Basic research and clinical aspects-translational aspects of hearing research.

Authors:  B Mazurek; M Knipper; E Biesinger; H Schulze
Journal:  HNO       Date:  2019-06       Impact factor: 1.284

2.  Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.

Authors:  Ellen F Macnamara; Alanna E Koehler; Precilla D'Souza; Tyra Estwick; Paul Lee; Gilbert Vezina; Harper Fauni; Stephen R Braddock; Erin Torti; James Matthew Holt; Prashant Sharma; May Christine V Malicdan; Cynthia J Tifft
Journal:  Hum Mutat       Date:  2019-03-12       Impact factor: 4.878

Review 3.  High-resolution 3 T magnetic resonance findings in cochlear hypoplasias and incomplete partition anomalies: a pictorial essay.

Authors:  Giacomo Talenti; Renzo Manara; Davide Brotto; Felice D'Arco
Journal:  Br J Radiol       Date:  2018-05-17       Impact factor: 3.039

4.  Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment.

Authors:  Thomas J Jaworek; Gowri N Sarangdhar; Zubair M Ahmed; Lili Zheng; Khitab Gul; Shaheen N Khan; Thomas B Friedman; Robert A Sisk; James R Bartles; Sheikh Riazuddin; Saima Riazuddin
Journal:  J Med Genet       Date:  2018-03-23       Impact factor: 6.318

5.  The link between inner ear malformations and the rest of the body: what we know so far about genetic, imaging and histology.

Authors:  Felice D'Arco; Eser Sanverdi; William T O'Brien; Ajay Taranath; Giacomo Talenti; Susan I Blaser
Journal:  Neuroradiology       Date:  2020-03-03       Impact factor: 2.804

Review 6.  Cochlear histopathology in human genetic hearing loss: State of the science and future prospects.

Authors:  Krishna Bommakanti; Janani S Iyer; Konstantina M Stankovic
Journal:  Hear Res       Date:  2019-08-19       Impact factor: 3.208

Review 7.  Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.

Authors:  Rahul Mittal; Amit P Patel; Desiree Nguyen; Debbie R Pan; Vasanti M Jhaveri; Jason R Rudman; Arjuna Dharmaraja; Denise Yan; Yong Feng; Prem Chapagain; David J Lee; Susan H Blanton; Xue Zhong Liu
Journal:  Gene       Date:  2018-01-10       Impact factor: 3.688

8.  TBL1Y: a new gene involved in syndromic hearing loss.

Authors:  Mariateresa Di Stazio; Chiara Collesi; Diego Vozzi; Wei Liu; Mike Myers; Anna Morgan; Pio Adamo D Adamo; Giorgia Girotto; Elisa Rubinato; Mauro Giacca; Paolo Gasparini
Journal:  Eur J Hum Genet       Date:  2018-10-19       Impact factor: 4.246

Review 9.  Adeno-associated virus gene replacement for recessive inner ear dysfunction: Progress and challenges.

Authors:  Charles Askew; Wade W Chien
Journal:  Hear Res       Date:  2020-03-18       Impact factor: 3.208

Review 10.  Genetic Therapies for Hearing Loss: Accomplishments and Remaining Challenges.

Authors:  Shahar Taiber; Karen B Avraham
Journal:  Neurosci Lett       Date:  2019-10-03       Impact factor: 3.046
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