Otoacoustic Emission Portal Zone: Articles Genetics

Genetics and Otoacoustic Emissions

Updated July 15, 2002

Luebke AE, Foster PK.: Variation in inter-animal susceptibility to noise damage is associated with alpha 9 acetylcholine receptor subunit expression level.
J Neurosci. 2002 May 15;22(10):4241-7.

Lucotte G, Francois M.: [Neonatal detection of deafness by molecular genetics in maternity hospitals: report of a 1st year concerning families at risk]
Arch Pediatr. 2002 Feb;9(2):222-3. French. No abstract available.

Garabedian EN.: [Recent advances in childhood deafness]
Arch Pediatr. 2002 Feb;9(2):107-9. French. No abstract available.

Tamagawa Y, Ishikawa K, Ishikawa K, Ishida T, Kitamura K, Makino S, Tsuru T, Ichimura K.: Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation.
Laryngoscope. 2002 Feb;112(2):292-7.

Szymko-Bennett YM, Russell LJ, Bale SJ, Griffith AJ.: Auditory manifestations of Keratitis-Ichthyosis-Deafness (KID) syndrome.
Laryngoscope. 2002 Feb;112(2):272-80. Review.

Delprat B, Boulanger A, Wang J, Beaudoin V, Guitton MJ, Venteo S, Dechesne CJ, Pujol R, Lavigne-Rebillard M, Puel JL, Hamel CP.: Downregulation of otospiralin, a novel inner ear protein, causes hair cell degeneration and deafness.
J Neurosci. 2002 Mar 1;22(5):1718-25.

Engel-Yeger B, Zaaroura S, Zlotogora J, Shalev S, Hujeirat Y, Carrasquillo M, Barges S, Pratt H.: The effects of a connexin 26 mutation--35delG--on oto-acoustic emissions and brainstem evoked potentials: homozygotes and carriers.
Hear Res. 2002 Jan;163(1-2):93-100.

Oeken J, Stumpf R, Bootz F.: DPOAEs and vestibular function in different types of autosomal-dominant non-syndromal hearing impairment.
Auris Nasus Larynx. 2002 Jan;29(1):29-34.

Tsutsumi T, Nishida H, Noguchi Y, Komatsuzaki A, Kitamura K.: Audiological findings in patients with myoclonic epilepsy associated with ragged-red fibres.
J Laryngol Otol. 2001 Oct;115(10):777-81.

Stephens D, Zhao F.: The role of a family history in King Kopetzky Syndrome (obscure auditory dysfunction).
Acta Otolaryngol. 2000 Mar;120(2):197-200.

Elfenbein JL, Fisher RA, Wei S, Morell RJ, Stewart C, Friedman TB, Friderici K.: Audiologic aspects of the search for DFNA20: a gene causing late-onset, progressive, sensorineural hearing loss.
Ear Hear. 2001 Aug;22(4):279-88.

Bamiou DE, Campbell P, Liasis A, Page J, Sirimanna T, Boyd S, Vellodi A, Harris C.: Audiometric abnormalities in children with Gaucher disease type 3.
Neuropediatrics. 2001 Jun;32(3):136-41.

Luebke AE, Steiger JD, Hodges BL, Amalfitano A.: A modified adenovirus can transfect cochlear hair cells in vivo without compromising cochlear function.
Gene Ther. 2001 May;8(10):789-94.

Morishita H, Makishima T, Kaneko C, Lee YS, Segil N, Takahashi K, Kuraoka A, Nakagawa T, Nabekura J, Nakayama K, Nakayama KI.: Deafness due to degeneration of cochlear neurons in caspase-3-deficient mice.
Biochem Biophys Res Commun. 2001 Jun 1;284(1):142-9.

Shallop JK, Peterson A, Facer GW, Fabry LB, Driscoll CL.: Cochlear implants in five cases of auditory neuropathy: postoperative findings and progress.
Laryngoscope. 2001 Apr;111(4 Pt 1):555-62.

Luebke AE, Foster PK, Muller CD, Peel AL.: Cochlear function and transgene expression in the guinea pig cochlea, using adenovirus- and adeno-associated virus-directed gene transfer.
Hum Gene Ther. 2001 May 1;12(7):773-81.

Oeken J, Stumpf R.: DPOAE-patterns in different types of autosomal-dominant nonsyndromal hearing impairment.
Scand Audiol Suppl. 2001;(52):119-20.

Konrad-Martin D, Norton SJ, Mascher KE, Tempel BL.: Effects of PMCA2 mutation on DPOAE amplitudes and latencies in deafwaddler mice.
Hear Res. 2001 Jan;151(1-2):205-220.

Legan PK, Lukashkina VA, Goodyear RJ, Kossi M, Russell IJ, Richardson GP.: A targeted deletion in alpha-tectorin reveals that the tectorial membrane is required for the gain and timing of cochlear feedback.
Neuron. 2000 Oct;28(1):273-85.

Sobe T, Vreugde S, Shahin H, Berlin M, Davis N, Kanaan M, Yaron Y, Orr-Urtreger A, Frydman M, Shohat M, Avraham KB.: The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population.
Hum Genet. 2000 Jan;106(1):50-7.

Romand R, Sapin V, Ghyselinck NB, Avan P, Le Calvez S, Dolle P, Chambon P, Mark M.: Spatio-temporal distribution of cellular retinoid binding protein gene transcripts in the developing and the adult cochlea. Morphological and functional consequences in CRABP- and CRBPI-null mutant mice.
Eur J Neurosci. 2000 Aug;12(8):2793-804.

Pak MW, Ng MH, Leung CB, van Hasselt CA.: Cochlear deafness in a Chinese family with Fechtner's syndrome.
Am J Otol. 2000 May;21(3):345-50.

Frydman M, Vreugde S, Nageris BI, Weiss S, Vahava O, Avraham KB.: Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor.
Arch Otolaryngol Head Neck Surg. 2000 May;126(5):633-7.

Knipper M, Zinn C, Maier H, Praetorius M, Rohbock K, Kopschall I, Zimmermann U.: Thyroid hormone deficiency before the onset of hearing causes irreversible damage to peripheral and central auditory systems.
J Neurophysiol. 2000 May;83(5):3101-12.

Borg E, Samuelsson E, Dahl N.: Audiometric characterization of a family with digenic autosomal, dominant, progressive sensorineural hearing loss.
Acta Otolaryngol. 2000 Jan;120(1):51-7.

Hultcrantz M, Stenberg AE, Fransson A, Canlon B.: Characterization of hearing in an X,0 'Turner mouse'.
Hear Res. 2000 May;143(1-2):182-8.

Chinnery PF, Elliott C, Green GR, Rees A, Coulthard A, Turnbull DM, Griffiths TD.: The spectrum of hearing loss due to mitochondrial DNA defects.
Brain. 2000 Jan;123 ( Pt 1):82-92.

Li D, Henley CM, O'Malley BW Jr.: Distortion product otoacoustic emissions and outer hair cell defects in the hyt/hyt mutant mouse.
Hear Res. 1999 Dec;138(1-2):65-72.

Kossl M, Mayer F, Frank G, Faulstich M, Russell IJ.: Evolutionary adaptations of cochlear function in Jamaican mormoopid bats.
J Comp Physiol [A]. 1999 Sep;185(3):217-28.

Corley VM, Crabbe LS.: Auditory neuropathy and a mitochondrial disorder in a child: case study.
J Am Acad Audiol. 1999 Oct;10(9):484-8.

LeBlanc CS, Fallon M, Parker MS, Skellett R, Bobbin RP.: Phosphorothioate oligodeoxynucleotides can selectively alter neuronal activity in the cochlea.
Hear Res. 1999 Sep;135(1-2):105-12.

Herberhold C.: [Genetic screening for deafness].
HNO. 1999 May;47(5):456. German. No abstract available.

Vetter DE, Liberman MC, Mann J, Barhanin J, Boulter J, Brown MC, Saffiote-Kolman J, Heinemann SF, Elgoyhen AB.: Role of alpha9 nicotinic ACh receptor subunits in the development and function of cochlear efferent innervation.
Neuron. 1999 May;23(1):93-103.

Butinar D, Zidar J, Leonardis L, Popovic M, Kalaydjieva L, Angelicheva D, Sininger Y, Keats B, Starr A.: Hereditary auditory, vestibular, motor, and sensory neuropathy in a Slovenian Roma (Gypsy) kindred.
Ann Neurol. 1999 Jul;46(1):36-44.

Setzen G, Cacace AT, Eames F, Riback P, Lava N, McFarland DJ, Artino LM, Kerwood JA.: Central deafness in a young child with Moyamoya disease: paternal linkage in a Caucasian family: two case reports and a review of the literature.
Int J Pediatr Otorhinolaryngol. 1999 Apr 25;48(1):53-76. Review.

Pfister MH, Apaydin F, Turan O, Bereketoglu M, Bilgen V, Braendle U, Kose S, Zenner HP, Lalwani AK.: Clinical evidence for dystrophin dysfunction as a cause of hearing loss in locus DFN4.
Laryngoscope. 1999 May;109(5):730-5.

Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, Kuehn HJ, Schaefer GB, Gobar LS, Hahn FJ, Harris DJ, Kimberling WJ.: Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)
Pediatrics. 1999 Mar;103(3):546-50.

Parving A.: [The Danish care of persons with hearing impairment. Medical-audiological aspects].
Ugeskr Laeger. 1999 Jan 4;161(1):11-4. Review. Danish. No abstract available.

Hassmann E, Skotnicka B, Midro AT, Musiatowicz M.: Distortion products otoacoustic emissions in diagnosis of hearing loss in Down syndrome.
Int J Pediatr Otorhinolaryngol. 1998 Oct 15;45(3):199-206.

Rosanowski F, Hoppe U, Hies T, Eysholdt U.: [Johanson-Blizzard syndrome. A complex dysplasia syndrome with aplasia of the nasal alae and inner ear deafness].
HNO. 1998 Oct;46(10):876-8. German.

Morell RJ, Kim HJ, Hood LJ, Goforth L, Friderici K, Fisher R, Van Camp G, Berlin CI, Oddoux C, Ostrer H, Keats B, Friedman TB.: Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness.
N Engl J Med. 1998 Nov 19;339(21):1500-5.

Le Calvez S, Guilhaume A, Romand R, Aran JM, Avan P.: CD1 hearing-impaired mice. II. Group latencies and optimal f2/f1 ratios of distortion product otoacoustic emissions, and scanning electron microscopy.
Hear Res. 1998 Jun;120(1-2):51-61.

Le Calvez S, Avan P, Gilain L, Romand R.: CD1 hearing-impaired mice. I: Distortion product otoacoustic emission levels, cochlear function and morphology.
Hear Res. 1998 Jun;120(1-2):37-50.

Lalwani AK, Jackler RK, Sweetow RW, Lynch ED, Raventos H, Morrow J, King MC, Leon PE.: Further characterization of the DFNA1 audiovestibular phenotype.
Arch Otolaryngol Head Neck Surg. 1998 Jun;124(6):699-702.

Huang JM, Berlin CI, Lin ST, Keats BJ.: Low intensities and 1.3 ratio produce distortion product otoacoustic emissions which are larger in heterozygous (+/dn) than homozygous (+/+) mice.
Hear Res. 1998 Mar;117(1-2):24-30.

Sue CM, Lipsett LJ, Crimmins DS, Tsang CS, Boyages SC, Presgrave CM, Gibson WP, Byrne E, Morris JG.: Cochlear origin of hearing loss in MELAS syndrome.
Ann Neurol. 1998 Mar;43(3):350-9. Review.

Liu XZ, Newton VE.: Distortion product emissions in normal-hearing and low-frequency hearing loss carriers of genes for Waardenburg's syndrome.
Ann Otol Rhinol Laryngol. 1997 Mar;106(3):220-5.

Huang JM, Money MK, Berlin CI, Keats BJ.: Phenotypic patterns of distortion product otoacoustic emission in inbred and F1 hybrid hearing mouse strains.
Hear Res. 1996 Sep 1;98(1-2):18-21.

McFadden D, Loehlin JC, Pasanen EG.: Additional findings on heritability and prenatal masculinization of cochlear mechanisms: click-evoked otoacoustic emissions.
Hear Res. 1996 Aug;97(1-2):102-19.

Huang JM, Money MK, Berlin CI, Keats BJ.: Auditory phenotyping of heterozygous sound-responsive (+/dn) and deafness (dn/dn) mice.
Hear Res. 1995 Aug;88(1-2):61-4.

McFadden D, Loehlin JC.: On the heritability of spontaneous otoacoustic emissions: A twins study.
Hear Res. 1995 May;85(1-2):181-98.

Lafreniere D, Smurzynski J, Jung M, Leonard G, Kim DO.: Otoacoustic emissions in full-term newborns at risk for hearing loss.
Laryngoscope. 1993 Dec;103(12):1334-41.

Snow JB Jr, Naunton RF.: Research in the auditory and vestibular systems. The recommendations of the National Institute on Deafness and Other Communication Disorders National Strategic Research Plan.
ORL J Otorhinolaryngol Relat Spec. 1993 May-Jun;55(3):154-8.

Bonfils P, Avan P, Londero A, Narcy P, Trotoux J.: Progressive hereditary deafness with predominant inner hair cell loss.
Am J Otol. 1991 May;12(3):203-6.

Ohlms LA, Lonsbury-Martin BL, Martin GK.: Acoustic-distortion products: separation of sensory from neural dysfunction in sensorineural hearing loss in human beings and rabbits.
Otolaryngol Head Neck Surg. 1991 Feb;104(2):159-74.

Norton SJ, Neely ST.: Tone-burst-evoked otoacoustic emissions from normal-hearing subjects.
J Acoust Soc Am. 1987 Jun;81(6):1860-72.

Horner KC, Lenoir M, Bock GR.: Distortion product otoacoustic emissions in hearing-impaired mutant mice.
J Acoust Soc Am. 1985 Nov;78(5):1603-11.

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