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Volumn 29, Issue 5, 2008, Pages 601-606

Histopathology of nonsyndromic autosomal dominant midfrequency sensorineural hearing loss

Author keywords

Genetic deafness; Sensorineural hearing loss; Temporal bone histopathology

Indexed keywords

AGED; AIR CONDUCTION; ANAMNESIS; ARTICLE; ATROPHY; AUDIOMETRY; AUTOPSY; AUTOSOMAL DOMINANT DISORDER; BONE TISSUE; CASE REPORT; COCHLEA; COCHLEA PROSTHESIS; CONTROLLED STUDY; CORTI ORGAN; DEATH; DENDRITE; DISEASE COURSE; FREQUENCY DISCRIMINATION; HAIR CELL; HAIR LOSS; HEARING LOSS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INNER EAR; LUNG SMALL CELL CANCER; MALE; MICROSCOPY; NERVE CELL; PEDIGREE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SPEECH DISCRIMINATION; SPIRAL LAMINA; STRIA VASCULARIS; TEMPORAL BONE; ADULT; AUDITORY THRESHOLD; FEMALE; GENETICS; HOSPITALIZATION; MIDDLE AGED; PATHOLOGY; PHYSIOLOGY; POINT MUTATION; PURE TONE AUDIOMETRY; SPEECH PERCEPTION;

EID: 58149381113     PISSN: 15317129     EISSN: 15374505     Source Type: Journal    
DOI: 10.1097/MAO.0b013e3181778245     Document Type: Article
Times cited : (5)

References (16)
  • 1
    • 0000796821 scopus 로고
    • Dominant hereditary nerve deafness
    • Mårtensson B. Dominant hereditary nerve deafness. Acta Otolaryngol (Stockh) 1960;52:270-4.
    • (1960) Acta Otolaryngol (Stockh) , vol.52 , pp. 270-274
    • Mårtensson, B.1
  • 2
    • 0003120484 scopus 로고
    • Hereditary nerve deafness. A follow-up of four cases in one family
    • Williams F, Roblee LA. Hereditary nerve deafness. A follow-up of four cases in one family. Arch Otolaryngol 1962;75:69-77.
    • (1962) Arch Otolaryngol , vol.75 , pp. 69-77
    • Williams, F.1    Roblee, L.A.2
  • 5
    • 0034092944 scopus 로고    scopus 로고
    • The phenotype of DFNA13/COL11A2: Nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment
    • Kunst H, Huybrechts C, Marres H, Huygen P, Van Camp G, Cremers C. The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment. Am J Otol 2000;2:181-7.
    • (2000) Am J Otol , vol.2 , pp. 181-187
    • Kunst, H.1    Huybrechts, C.2    Marres, H.3    Huygen, P.4    Van Camp, G.5    Cremers, C.6
  • 6
    • 0034744864 scopus 로고    scopus 로고
    • Autosomal dominant midfrequency hearing impairment
    • Kaksonen R, Widen E, Cormand B, et al. Autosomal dominant midfrequency hearing impairment. Scand Audiol Suppl 2001;52: 85-7.
    • (2001) Scand Audiol Suppl , vol.52 , pp. 85-87
    • Kaksonen, R.1    Widen, E.2    Cormand, B.3
  • 7
    • 67650220719 scopus 로고
    • 2nd ed. Philadelphia, PA: Lea and Febiger
    • Schuknecht HF. Ear. 2nd ed. Philadelphia, PA: Lea and Febiger, 1993.
    • (1993) Ear
    • Schuknecht, H.F.1
  • 8
    • 33645761431 scopus 로고    scopus 로고
    • Polyester wax: A new embedding medium for the histopathologic study of human temporal bones
    • Merchant SN, Burgess B, O'Malley J, Jones D, Adams JC. Polyester wax: a new embedding medium for the histopathologic study of human temporal bones. Laryngoscope 2006;116: 245-9.
    • (2006) Laryngoscope , vol.116 , pp. 245-249
    • Merchant, S.N.1    Burgess, B.2    O'Malley, J.3    Jones, D.4    Adams, J.C.5
  • 9
    • 0031793315 scopus 로고    scopus 로고
    • A new autosomaldominant locus (DFNA12) is responsible for a nonsyndromic, midfrequency, prelingual and nonprogressive sensorineural hearing loss
    • Govaerts PJ, De Ceulaer G, Daemers K, et al. A new autosomaldominant locus (DFNA12) is responsible for a nonsyndromic, midfrequency, prelingual and nonprogressive sensorineural hearing loss. Am J Otol 1998;6:718-23.
    • (1998) Am J Otol , vol.6 , pp. 718-723
    • Govaerts, P.J.1    De Ceulaer, G.2    Daemers, K.3
  • 10
    • 17344364928 scopus 로고    scopus 로고
    • Verhoeven K, Van Laer L, Kirschhofer K, et al. Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet 1998;1:60-2. Erratum in: Nat Genet 1999;4:449.
    • Verhoeven K, Van Laer L, Kirschhofer K, et al. Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet 1998;1:60-2. Erratum in: Nat Genet 1999;4:449.
  • 11
    • 4444237227 scopus 로고    scopus 로고
    • A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations
    • Pfister M, Thiele H, Van Camp G, et al. A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations. Cell Physiol Biochem 2004;14:369-76.
    • (2004) Cell Physiol Biochem , vol.14 , pp. 369-376
    • Pfister, M.1    Thiele, H.2    Van Camp, G.3
  • 13
    • 0035253743 scopus 로고    scopus 로고
    • Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus
    • Wayne S, Robertson NG, DeClau F, et al. Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. Hum Mol Genet 2001;3:195-200.
    • (2001) Hum Mol Genet , vol.3 , pp. 195-200
    • Wayne, S.1    Robertson, N.G.2    DeClau, F.3
  • 14
    • 0032755733 scopus 로고    scopus 로고
    • Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
    • McGuirt WT, Prasad SD, Griffith AJ, et al. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet 1999;4: 413-9.
    • (1999) Nat Genet , vol.4 , pp. 413-419
    • McGuirt, W.T.1    Prasad, S.D.2    Griffith, A.J.3
  • 15
    • 0035148222 scopus 로고    scopus 로고
    • Autosomal dominant inherited hearing impairment caused by a missense mutation in COL11A2 (DFNA13)
    • De Leenheer EM, Kunst H, McGuirt WT, et al. Autosomal dominant inherited hearing impairment caused by a missense mutation in COL11A2 (DFNA13). Arch Otolaryngol Head Neck Surg 2001; 127:13-7.
    • (2001) Arch Otolaryngol Head Neck Surg , vol.127 , pp. 13-17
    • De Leenheer, E.M.1    Kunst, H.2    McGuirt, W.T.3
  • 16
    • 0003192392 scopus 로고    scopus 로고
    • Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21)
    • Kunst H, Marres H, Huygen P, et al. Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21). Clin Otolaryngol Allied Sci 25:45-54.
    • Clin Otolaryngol Allied Sci , vol.25 , pp. 45-54
    • Kunst, H.1    Marres, H.2    Huygen, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.