Genetics and OAEs


  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.