Publications by authors named "Andrew J Griffith"

94Publications

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

Clin Genet 2020 Oct 21. Epub 2020 Oct 21.

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1111/cge.13868DOI Listing
October 2020

Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in lymphocytes is regulated by each of the components.

J Biol Chem 2020 Nov 11;295(47):16086-16099. Epub 2020 Sep 11.

Laboratory of Cellular and Molecular Biology, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, USA

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http://dx.doi.org/10.1074/jbc.RA120.013045DOI Listing
November 2020

Atypical and ultra-rare Usher syndrome: a review.

Ophthalmic Genet 2020 10 6;41(5):401-412. Epub 2020 May 6.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health , Bethesda, MD, USA.

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http://dx.doi.org/10.1080/13816810.2020.1747090DOI Listing
October 2020

Genetic Hearing Loss Associated With Autoinflammation.

Front Neurol 2020 5;11:141. Epub 2020 Mar 5.

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, United States.

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http://dx.doi.org/10.3389/fneur.2020.00141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7066252PMC
March 2020

Systemic Fluorescent Gentamicin Enters Neonatal Mouse Hair Cells Predominantly Through Sensory Mechanoelectrical Transduction Channels.

J Assoc Res Otolaryngol 2020 04 9;21(2):137-149. Epub 2020 Mar 9.

Department of Otolaryngology, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.

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http://dx.doi.org/10.1007/s10162-020-00746-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7270392PMC
April 2020

SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct.

BMC Med Genet 2019 07 2;20(1):118. Epub 2019 Jul 2.

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 35A Convent Drive, Room GF103, NIDCD/NIH, Bethesda, MD, USA.

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-019-0853-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6604142PMC
July 2019

Tmc2 expression partially restores auditory function in a mouse model of DFNB7/B11 deafness caused by loss of Tmc1 function.

Sci Rep 2018 08 14;8(1):12125. Epub 2018 Aug 14.

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders (NIDCD), NIH, Bethesda, Maryland, 20892, USA.

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http://dx.doi.org/10.1038/s41598-018-29709-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6092339PMC
August 2018

Molecular architecture underlying fluid absorption by the developing inner ear.

Elife 2017 10 10;6. Epub 2017 Oct 10.

Molecular Biology and Genetics Section, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, United States.

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http://dx.doi.org/10.7554/eLife.26851DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5634787PMC
October 2017

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

Mol Ther 2017 03 21;25(3):780-791. Epub 2017 Feb 21.

Neurotology Program, National Institute on Deafness and Other Communication Disorders (NIDCD), NIH, Bethesda, MD 20892, USA; Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymthe.2017.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363211PMC
March 2017

Acute genetic ablation of pendrin lowers blood pressure in mice.

Nephrol Dial Transplant 2017 Jul;32(7):1137-1145

Service d'Explorations Fonctionnelles Rénales, Hôpital Felix Guyon, CHU de la Réunion, St Denis, Ile de la Réunion, France.

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http://dx.doi.org/10.1093/ndt/gfw393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5837383PMC
July 2017

Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4.

Laryngoscope 2017 07 15;127(7):E238-E243. Epub 2016 Nov 15.

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/lary.26418DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224160PMC
July 2017

A genotypic ascertainment approach to refute the association of MYO1A variants with non-syndromic deafness.

Eur J Hum Genet 2016 01 19;25(1):147-149. Epub 2016 Oct 19.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/ejhg.2016.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5159773PMC
January 2016

Slc26a4 expression prevents fluctuation of hearing in a mouse model of large vestibular aqueduct syndrome.

Neuroscience 2016 08 4;329:74-82. Epub 2016 May 4.

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuroscience.2016.04.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4905817PMC
August 2016

Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.

Laryngoscope 2016 07 20;126(7):E240-7. Epub 2015 Oct 20.

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/lary.25737DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4838554PMC
July 2016

Vestibular Dysfunction in Patients with Enlarged Vestibular Aqueduct.

Otolaryngol Head Neck Surg 2015 Aug 12;153(2):257-62. Epub 2015 May 12.

National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1177/0194599815585098DOI Listing
August 2015

Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.

Invest Ophthalmol Vis Sci 2014 Nov 25;56(1):107-14. Epub 2014 Nov 25.

National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, United States.

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http://dx.doi.org/10.1167/iovs.14-15355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4288141PMC
November 2014

Transmembrane channel-like (TMC) genes are required for auditory and vestibular mechanosensation.

Pflugers Arch 2015 Jan 31;467(1):85-94. Epub 2014 Jul 31.

Department of Otolaryngology, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, 113-8519, Japan.

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http://dx.doi.org/10.1007/s00424-014-1582-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4282624PMC
January 2015

Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction.

Auris Nasus Larynx 2014 Oct 2;41(5):399-408. Epub 2014 Jun 2.

Molecular Biology and Genetics Section, National Institute on Deafness and Other Communication Disorders (NIDCD), NIH, 35A Convent Dr, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.anl.2014.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4176506PMC
October 2014

Hearing loss is an early consequence of Npc1 gene deletion in the mouse model of Niemann-Pick disease, type C.

J Assoc Res Otolaryngol 2014 Aug 17;15(4):529-41. Epub 2014 May 17.

National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA,

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http://dx.doi.org/10.1007/s10162-014-0459-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141427PMC
August 2014

Slc26a4-insufficiency causes fluctuating hearing loss and stria vascularis dysfunction.

Neurobiol Dis 2014 Jun 19;66:53-65. Epub 2014 Feb 19.

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2014.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3995827PMC
June 2014

Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.

JAMA Otolaryngol Head Neck Surg 2013 Sep;139(9):907-13

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1001/jamaoto.2013.4185DOI Listing
September 2013

TMC1 and TMC2 are components of the mechanotransduction channel in hair cells of the mammalian inner ear.

Neuron 2013 Aug 18;79(3):504-15. Epub 2013 Jul 18.

Department of Otolaryngology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Center for Life Sciences 12251, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.neuron.2013.06.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3827726PMC
August 2013

mutation testing for hearing loss associated with enlargement of the vestibular aqueduct.

World J Otorhinolaryngol 2013 May;3(2):26-34

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, United States.

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http://dx.doi.org/10.5319/wjo.v3.i2.26DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4423814PMC
May 2013

Extracting energy from the inner ear.

Nat Biotechnol 2012 Dec;30(12):1204-5

Department of Electrical Engineering and Biomedical Engineering, Columbia University, New York, New York, USA.

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http://dx.doi.org/10.1038/nbt.2448DOI Listing
December 2012

SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct.

Cell Physiol Biochem 2011 18;28(3):545-52. Epub 2011 Nov 18.

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850-3320, USA.

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http://dx.doi.org/10.1159/000335119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3709178PMC
March 2012

Mechanotransduction in mouse inner ear hair cells requires transmembrane channel-like genes.

J Clin Invest 2011 Dec 21;121(12):4796-809. Epub 2011 Nov 21.

Molecular Biology and Genetics Section, National Institute on Deafness and Other Communication Disorders, NIH, Rockville, Maryland 20850-3320, USA.

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http://dx.doi.org/10.1172/JCI60405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3223072PMC
December 2011

A noncoding point mutation of Zeb1 causes multiple developmental malformations and obesity in Twirler mice.

PLoS Genet 2011 Sep 29;7(9):e1002307. Epub 2011 Sep 29.

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1002307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3183090PMC
September 2011

Influence of dietary iodine deficiency on the thyroid gland in Slc26a4-null mutant mice.

Thyroid Res 2011 Jun 20;4(1):10. Epub 2011 Jun 20.

Department of Otorhinolaryngology Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi 466-8550, Japan.

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http://dx.doi.org/10.1186/1756-6614-4-10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141755PMC
June 2011

Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models.

Hear Res 2011 Nov 6;281(1-2):11-7. Epub 2011 Jun 6.

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, 5 Research Court, Rockville, Maryland 20850-3320, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S037859551100148
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http://dx.doi.org/10.1016/j.heares.2011.05.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3183377PMC
November 2011

Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome.

BMC Med Genet 2011 Feb 9;12:21. Epub 2011 Feb 9.

Laboratory of Molecular Genetics, Division of Pediatric Otolaryngology Head & Neck Surgery, Cincinnati Children's Hospital Research Foundation, and University of Cincinnati, College of Medicine, Cincinnati, OH, USA.

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http://dx.doi.org/10.1186/1471-2350-12-21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3042908PMC
February 2011

Topology of transmembrane channel-like gene 1 protein.

Biochemistry 2010 Oct 8;49(39):8592-8. Epub 2010 Sep 8.

Molecular Biology and Genetics Section, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA.

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http://dx.doi.org/10.1021/bi1004377DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005947PMC
October 2010

Otolaryngologic markers for the early diagnosis of Turner syndrome.

Int J Pediatr Otorhinolaryngol 2009 Nov 3;73(11):1564-7. Epub 2009 Sep 3.

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20850-3320, USA.

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http://dx.doi.org/10.1016/j.ijporl.2009.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2757481PMC
November 2009

Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts.

Arch Otolaryngol Head Neck Surg 2009 Jul;135(7):670-6

Social and Behavioral Research Branch, National Human GenomeResearch Institute, National Institutes of Health, Bethesda, MD 20892-3320, USA.

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http://dx.doi.org/10.1001/archoto.2009.66DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2941509PMC
July 2009

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.

J Hum Genet 2009 May 13;54(5):266-70. Epub 2009 Mar 13.

National Center of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan.

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http://dx.doi.org/10.1038/jhg.2009.21DOI Listing
May 2009

Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment.

J Hum Genet 2009 Mar 30;54(3):188-90. Epub 2009 Jan 30.

Department of Medical Genetics, University of Antwerp (UA), Antwerp, Belgium.

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http://dx.doi.org/10.1038/jhg.2009.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3431155PMC
March 2009

Hedgehog signaling regulates sensory cell formation and auditory function in mice and humans.

J Neurosci 2008 Jul;28(29):7350-8

Section on Developmental Neuroscience, National Institute on Deafness and Other Communication Disorders, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1523/JNEUROSCI.0312-08.2008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2581462PMC
July 2008

Analysis of auditory phenotype and karyotype in 200 females with Turner syndrome.

Ear Hear 2007 Dec;28(6):831-41

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://turners.nichd.nih.gov/pdf/Hearong%20loss.pdf
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/AUD.0b013e318157677fDOI Listing
December 2007

Anxiety and otovestibular disorders: linking behavioral phenotypes in men and mice.

Behav Brain Res 2008 Jan 1;186(1):1-11. Epub 2007 Aug 1.

Laboratory of Clinical Science, Building 10, Room 3D41, National Institute of Mental Health, 10 Center Dr. MSC 1264, NIH, Bethesda, MD 20892-1264, USA.

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http://dx.doi.org/10.1016/j.bbr.2007.07.032DOI Listing
January 2008

The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.

Hum Genet 2007 Dec 10;122(5):445-50. Epub 2007 Aug 10.

National Centre of Excellence in Molecular Biology, University of the Punjab, 87-West Canal Bank Road, Thokar Niaz Baig, Lahore, 53700, Pakistan.

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http://dx.doi.org/10.1007/s00439-007-0418-zDOI Listing
December 2007

Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain.

Am J Med Genet A 2007 Jul;143A(14):1592-8

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville 20850-3320, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.31793DOI Listing
July 2007

Auditory mechanotransduction in the absence of functional myosin-XVa.

J Physiol 2006 Nov 14;576(Pt 3):801-8. Epub 2006 Sep 14.

Department of Physiology, University of Kentucky, MS508, Chandler Medical Center, 800 Rose Street, Lexington, KY 40536, USA.

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http://dx.doi.org/10.1113/jphysiol.2006.118547DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1890419PMC
November 2006

Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome.

Laryngoscope 2006 Aug;116(8):1404-8

Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1097/01.mlg.0000224549.75161.caDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2563154PMC
August 2006

Multiple quantitative trait loci modify cochlear hair cell degeneration in the Beethoven (Tmc1Bth) mouse model of progressive hearing loss DFNA36.

Genetics 2006 Aug 28;173(4):2111-9. Epub 2006 Apr 28.

Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850-3320, USA.

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http://www.genetics.org/cgi/doi/10.1534/genetics.106.057372
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http://dx.doi.org/10.1534/genetics.106.057372DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1569729PMC
August 2006

Stickler syndrome: clinical characteristics and diagnostic criteria.

Am J Med Genet A 2005 Oct;138A(3):199-207

Warren Magnuson Grant Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.30955DOI Listing
October 2005

Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder.

Hum Genet 2005 Oct 28;118(1):29-34. Epub 2005 Oct 28.

Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1007/s00439-005-0001-4DOI Listing
October 2005

Investigation of the role of congenital cytomegalovirus infection in the etiology of enlarged vestibular aqueducts.

Arch Otolaryngol Head Neck Surg 2005 May;131(5):388-92

Hearing Section, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1001/archotol.131.5.388DOI Listing
May 2005

Modification of human hearing loss by plasma-membrane calcium pump PMCA2.

N Engl J Med 2005 Apr;352(15):1557-64

Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Md 20850, USA.

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http://depts.washington.edu/audneuro/Griffith.pdf
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http://www.nejm.org/doi/abs/10.1056/NEJMoa043899
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http://dx.doi.org/10.1056/NEJMoa043899DOI Listing
April 2005

Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia.

Nat Cell Biol 2005 Feb 16;7(2):148-56. Epub 2005 Jan 16.

Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1038/ncb1219DOI Listing
February 2005

Early onset and rapid progression of dominant nonsyndromic DFNA36 hearing loss.

Otol Neurotol 2004 Sep;25(5):714-9

Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA.

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http://dx.doi.org/10.1097/00129492-200409000-00011DOI Listing
September 2004

Genetic insights into the morphogenesis of inner ear hair cells.

Nat Rev Genet 2004 Jul;5(7):489-98

Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA.

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http://dx.doi.org/10.1038/nrg1377DOI Listing
July 2004

Col11a1 and Col11a2 mRNA expression in the developing mouse cochlea: implications for the correlation of hearing loss phenotype with mutant type XI collagen genotype.

Acta Otolaryngol 2004 Apr;124(3):242-8

Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA.

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http://dx.doi.org/10.1080/00016480410016162DOI Listing
April 2004

Stereocilia: the long and the short of it.

Trends Mol Med 2003 Nov;9(11):458-61

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1016/j.molmed.2003.09.008DOI Listing
November 2003

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.

Hum Mol Genet 2003 Dec 21;12(24):3215-23. Epub 2003 Oct 21.

Section of Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA.

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http://dx.doi.org/10.1093/hmg/ddg358DOI Listing
December 2003

Human nonsyndromic sensorineural deafness.

Annu Rev Genomics Hum Genet 2003 ;4:341-402

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA.

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http://dx.doi.org/10.1146/annurev.genom.4.070802.110347DOI Listing
December 2003

Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians.

Hum Genet 2003 Dec 18;114(1):44-50. Epub 2003 Sep 18.

Department of Otolaryngology, University of Miami, 1666 NW 12th Avenue, Miami, FL 33136, USA.

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http://dx.doi.org/10.1007/s00439-003-1018-1DOI Listing
December 2003

Recent advances in the understanding of syndromic forms of hearing loss.

Ear Hear 2003 Aug;24(4):289-302

Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD, USA.

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http://dx.doi.org/10.1097/01.AUD.0000079804.00047.CEDOI Listing
August 2003

Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis.

Genomics 2003 Sep;82(3):300-8

Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 20850, Rockville, MD, USA

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http://dx.doi.org/10.1016/s0888-7543(03)00154-xDOI Listing
September 2003

A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.

N Engl J Med 2003 Apr;348(17):1664-70

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Md 20850, USA.

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http://dx.doi.org/10.1056/NEJMoa021502DOI Listing
April 2003

Mutations of MYO6 are associated with recessive deafness, DFNB37.

Am J Hum Genet 2003 May 8;72(5):1315-22. Epub 2003 Apr 8.

Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180285PMC
http://dx.doi.org/10.1086/375122DOI Listing
May 2003

Auditory function associated with Col11a1 haploinsufficiency in chondrodysplasia (cho) mice.

Hear Res 2003 Jan;175(1-2):178-82

Hearing Section, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1016/s0378-5955(02)00736-0DOI Listing
January 2003

Genetic modifiers of hereditary hearing loss.

Adv Otorhinolaryngol 2002 ;61:224-9

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Md., USA.

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http://dx.doi.org/10.1159/000066813DOI Listing
February 2003

Clinical manifestations of DFNB29 deafness.

Adv Otorhinolaryngol 2002 ;61:156-60

Laboratory of Molecular Genetics, National Center of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan.

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http://dx.doi.org/10.1159/000066828DOI Listing
February 2003

Clinical presentation of DFNB12 and Usher syndrome type 1D.

Adv Otorhinolaryngol 2002 ;61:145-52

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Md., USA.

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http://dx.doi.org/10.1159/000066829DOI Listing
February 2003

Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28.

Hum Mol Genet 2002 Nov;11(23):2877-85

Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1093/hmg/11.23.2877DOI Listing
November 2002

Knock-in mouse model for resistance to thyroid hormone (RTH): an RTH mutation in the thyroid hormone receptor beta gene disrupts cochlear morphogenesis.

J Assoc Res Otolaryngol 2002 Sep 27;3(3):279-88. Epub 2002 Feb 27.

Hearing Section, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1007/s101620010092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3202409PMC
September 2002

Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

Am J Hum Genet 2002 Sep 24;71(3):632-6. Epub 2002 Jul 24.

Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, 20850, USA.

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http://dx.doi.org/10.1086/342193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379198PMC
September 2002

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

Hum Genet 2002 Jun 3;110(6):527-31. Epub 2002 May 3.

Section of Human Genetics, Laboratory of Molecular Genetics, National Institute of Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

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http://dx.doi.org/10.1007/s00439-002-0732-4DOI Listing
June 2002

Auditory manifestations of Keratitis-Ichthyosis-Deafness (KID) syndrome.

Laryngoscope 2002 Feb;112(2):272-80

National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/00005537-200202000-00014DOI Listing
February 2002

Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.

Nat Genet 2002 Mar 19;30(3):257-8. Epub 2002 Feb 19.

Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.

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http://dx.doi.org/10.1038/ng848DOI Listing
March 2002

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.

Nat Genet 2002 Mar 19;30(3):277-84. Epub 2002 Feb 19.

Section on Gene Structure and Function, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, Maryland 20850, USA.

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http://www.nature.com/articles/ng842
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http://dx.doi.org/10.1038/ng842DOI Listing
March 2002

Auditory function and the M34T allele of connexin 26.

Arch Otolaryngol Head Neck Surg 2002 Jan;128(1):94

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January 2002