PMID: 15368487DOI: 10.1002/ajmg.a.30053Sep 16, 2004Paper
Clinical application of genetic testing for deafness
American Journal of Medical Genetics. Part a
R J H Smith
Abstract
Advances in the molecular biology of hearing and deafness have identified many genes essential for normal auditory function. Allele variants of these genes cause nonsyndromic deafness, making mutation screening a valuable test to unequivocally diagnose many different forms of inherited deafness. In this study, genetic testing of GJB2, SLC26A4 and WFS1 is reviewed.
References
Jan 1, 1977·Acta Paediatrica Scandinavica. Supplement·C W CremersA J Pinckers
Oct 1, 1989·Clinical Otolaryngology and Allied Sciences·T JohnsenJ Friis
Feb 1, 1995·Anatomy and Embryology·T KikuchiJ C Adams
Sep 1, 1994·Acta Oto-laryngologica·T KikuchiR S Kimura
Jan 1, 1994·Nature Genetics·P GuilfordC Petit
May 15, 1996·European Journal of Biochemistry·R BruzzoneD L Paul
May 1, 1997·Nature·D P KelsellI M Leigh
Sep 1, 1997·Human Molecular Genetics·L ZelanteP Fortina
Oct 23, 1997·Human Molecular Genetics·F DenoyelleC Petit
Nov 21, 1997·Science·E D LynchM C King
Dec 17, 1997·Nature Genetics·L A EverettE D Green
Mar 3, 1998·Lancet·X EstivillP Gasparini
Apr 29, 1998·Nucleic Acids Research·W LiuC D James
Mar 21, 1998·Nature Genetics·X C LiE R Wilcox
May 19, 1998·Clinical Radiology·P D PhelpsW Reardon
May 26, 1998·Human Mutation·D A ScottV C Sheffield
Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection
Sep 19, 1998·Genomics·M C O'DonovanP McGuffin
Oct 15, 1998·Nature Genetics·H InoueM A Permutt
Nov 18, 1998·Human Molecular Genetics·T M StromT Meitinger
Nov 20, 1998·The New England Journal of Medicine·R J MorellT B Friedman
Mar 2, 1999·Pediatrics·E S CohnW J Kimberling
Apr 28, 1999·Lancet·F DenoyelleC Petit
Jun 22, 1999·JAMA : the Journal of the American Medical Association·G E GreenR J Smith
Aug 7, 1999·Audiology : Official Organ of the International Society of Audiology·H KunstC Cremers
Dec 22, 1999·International Journal of Pediatric Otorhinolaryngology·R F MuellerN J Lench
Dec 23, 1999·American Journal of Medical Genetics·T KudoT Takasaka
Jun 22, 2000·Human Molecular Genetics·D A ScottV C Sheffield
Jun 22, 2000·Human Mutation·L A EllisG R Taylor
Sep 12, 2000·Human Genetics·T SobeK B Avraham
Feb 22, 2001·Human Molecular Genetics·K TakedaY Oka
Apr 24, 2001·Human Mutation·C CampbellR J Smith
Sep 5, 2001·Archives of Otolaryngology--head & Neck Surgery·R J Smith
Sep 13, 2001·Clinical Genetics·S BrodwolfJ Kunz
Sep 15, 2001·Archives of Otolaryngology--head & Neck Surgery·M E SmithR Harnsberger
Oct 9, 2001·Lancet·M TekinA Pandya
Nov 16, 2001·Human Molecular Genetics·I N BespalovaM M Lesperance
Nov 16, 2001·Human Molecular Genetics·T L YoungT Cator
Jun 20, 2002·Human Genetics·Kim CrynsGuy Van Camp
Nov 20, 2002·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Steven J H BomCor W R J Cremers
Sep 5, 2003·Human Mutation·Kim CrynsGuy Van Camp
Mar 22, 1958·Lancet·M E MORGANS, W R TROTTER
Dec 18, 2003·American Journal of Medical Genetics. Part a·Sai PrasadRichard J H Smith
❮ Previous
Next ❯
Citations
Mar 10, 2006·Journal of Genetic Counseling·Marilys Guillemin, Lynn Gillam
Nov 27, 2009·Expert Reviews in Molecular Medicine·Jack R Lee, Thomas W White
Jun 15, 2006·European Journal of Human Genetics : EJHG·Nanna D RendtorffLisbeth Tranebjaerg
Nov 16, 2012·Journal of Translational Medicine·Qi LiPu Dai
Dec 7, 2010·International Journal of Pediatric Otorhinolaryngology·Siqing FuGuanming Chen
Dec 31, 2005·American Journal of Human Genetics·Saima RiazuddinThomas B Friedman
Oct 25, 2007·Journal of Evolutionary Biology·E G Leigh
May 28, 2019·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·Hanlin WangGuiquan Shen
Dec 27, 2019·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Yunpeng DongDinghua Xie
Feb 28, 2018·Molecular Medicine Reports·Zhen ZhangHuaiyu Gu
❮ Previous
Next ❯
Related Concepts
Related Feeds
Auditory Perception
Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.
Related Papers
Genetics in Medicine : Official Journal of the American College of Medical Genetics
Amit KochharR J H Smith
Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound
(opens in new tab)The Journal of Molecular Diagnostics : JMD
Iris Schrijver
American Journal of Medical Genetics. Part a
C C Morton
Acta Oto-laryngologica
X Z LiuDenise Yan
Human Molecular Genetics
E FransenG Van Camp