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Volumn 82, Issue 4, 1999, Pages 322-328

Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene

Author keywords

Autosomal recessive; Chromosome 7; Enlarged vestibular aqueduct (EVA); Linkage; Pendred syndrome; Sensorineural hearing loss

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 7Q; CLINICAL ARTICLE; FEMALE; GENE LOCATION; GENE MUTATION; GENETIC LINKAGE; HUMAN; INNER EAR MALFORMATION; MALE; PENDRED SYNDROME; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; VESTIBULE AQUEDUCT;

EID: 0033590712     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990212)82:4<322::AID-AJMG9>3.0.CO;2-0     Document Type: Article
Times cited : (74)

References (37)
  • 1
    • 6844222822 scopus 로고    scopus 로고
    • Three familial cases of hearing loss associated with enlargement of tho vestibular aqueduct
    • Abe S, Usami S, Shinkawa H. 1997. Three familial cases of hearing loss associated with enlargement of tho vestibular aqueduct. Ann Otol Rhinol Laryngol 106:1063-1069.
    • (1997) Ann Otol Rhinol Laryngol , vol.106 , pp. 1063-1069
    • Abe, S.1    Usami, S.2    Shinkawa, H.3
  • 2
    • 0016016624 scopus 로고
    • Radiology of Pendred's syndrome
    • Andersen P. 1974. Radiology of Pendred's syndrome. Adv Otorhinolaryngol 21:9-18.
    • (1974) Adv Otorhinolaryngol , vol.21 , pp. 9-18
    • Andersen, P.1
  • 3
    • 0025940420 scopus 로고
    • The large vestibular aqueduct syndrome and sensorineural hearing loss in the pediatric population
    • Arcand P, Desrosiers M, Dube J, Abela A. 1991. The large vestibular aqueduct syndrome and sensorineural hearing loss in the pediatric population. J Otolaryngol 20:247-250.
    • (1991) J Otolaryngol , vol.20 , pp. 247-250
    • Arcand, P.1    Desrosiers, M.2    Dube, J.3    Abela, A.4
  • 4
    • 0029145428 scopus 로고
    • Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogenity in the Middle Eastern Druze population
    • Baldwin CT, Weiss S, Farrer L, De Stefano AL, Adair R, Franklyn B, Kidd K, Korostishevsky B-T. 1995. Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogenity in the Middle Eastern Druze population. Hum Mol Genet 4:1637-1642.
    • (1995) Hum Mol Genet , vol.4 , pp. 1637-1642
    • Baldwin, C.T.1    Weiss, S.2    Farrer, L.3    De Stefano, A.L.4    Adair, R.5    Franklyn, B.6    Kidd, K.7    Korostishevsky, B.-T.8
  • 6
    • 0018879355 scopus 로고
    • Pendred's syndrome with atypical features
    • Bergstrom L. 1980. Pendred's syndrome with atypical features. Ann Otol Rhinol Laryngol 89:135-139.
    • (1980) Ann Otol Rhinol Laryngol , vol.89 , pp. 135-139
    • Bergstrom, L.1
  • 9
    • 0023188849 scopus 로고
    • Pendred's syndrome with episodic vertigo, tinnitus and vomiting and bithermal caloric responses
    • Das VK. 1987. Pendred's syndrome with episodic vertigo, tinnitus and vomiting and bithermal caloric responses. J Laryngol Otol 101:721-722.
    • (1987) J Laryngol Otol , vol.101 , pp. 721-722
    • Das, V.K.1
  • 11
    • 0346154518 scopus 로고
    • Association of congenital deafness with goiter (Pendred's syndrome)
    • Fraser GR. 1965. Association of congenital deafness with goiter (Pendred's syndrome). Ann Hum Genet 28:201-249.
    • (1965) Ann Hum Genet , vol.28 , pp. 201-249
    • Fraser, G.R.1
  • 15
    • 0018851170 scopus 로고
    • Genetically, determinded deafness: 5 cases of Pendred's syndrome
    • Hormann K, Held KR. 1980. Genetically, determinded deafness: 5 cases of Pendred's syndrome. HNO 28:206-208.
    • (1980) HNO , vol.28 , pp. 206-208
    • Hormann, K.1    Held, K.R.2
  • 18
    • 0024836093 scopus 로고
    • The large vestibular aqueduct syndrome
    • Jackler RK, de la Cruz A. 1989. The large vestibular aqueduct syndrome. Laryngoscope 99:1238-1243.
    • (1989) Laryngoscope , vol.99 , pp. 1238-1243
    • Jackler, R.K.1    De La Cruz, A.2
  • 19
    • 0022973560 scopus 로고
    • Mondini cochlea in Pendred's syndrome
    • Stockh
    • Johnsen T, Jorgensen M, Johnsen S. 1986. Mondini cochlea in Pendred's syndrome. Acta Otolaryngol (Stockh) 1102:239-247.
    • (1986) Acta Otolaryngol , vol.1102 , pp. 239-247
    • Johnsen, T.1    Jorgensen, M.2    Johnsen, S.3
  • 20
    • 0024460985 scopus 로고
    • CT-scanning of the cochlea in Pendred's syndrome
    • Johnsen T, Videbaek H, Olesen KP. 1989. CT-scanning of the cochlea in Pendred's syndrome. Clin Otolaryngol 14:389-393.
    • (1989) Clin Otolaryngol , vol.14 , pp. 389-393
    • Johnsen, T.1    Videbaek, H.2    Olesen, K.P.3
  • 21
    • 0021850103 scopus 로고
    • Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination
    • Lathrop GM, Lalouel JM, Julier C, Ott J. 1985. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 37:482-498.
    • (1985) Am J Hum Genet , vol.37 , pp. 482-498
    • Lathrop, G.M.1    Lalouel, J.M.2    Julier, C.3    Ott, J.4
  • 24
    • 0031278277 scopus 로고    scopus 로고
    • Autosomal dominant non-syndromic deafness (DFNA11) caused by a mutation in the myosin VIIa gene
    • Liu XZ, Walsh J, Tamagawa Y, Kitamura K, Nishizawa M, Steel KP, Brown S. 1997b. Autosomal dominant non-syndromic deafness (DFNA11) caused by a mutation in the myosin VIIA gene. Nat Genet 17:268-269.
    • (1997) Nat Genet , vol.17 , pp. 268-269
    • Liu, X.Z.1    Walsh, J.2    Tamagawa, Y.3    Kitamura, K.4    Nishizawa, M.5    Steel, K.P.6    Brown, S.7
  • 25
    • 0026569243 scopus 로고
    • Large vestibular aqueduct and congenital sensorineural hearing loss
    • Mafee MF, Charletta D, Kumar A, Belmont H. 1992. Large vestibular aqueduct and congenital sensorineural hearing loss. AJNR 13:805-819.
    • (1992) AJNR , vol.13 , pp. 805-819
    • Mafee, M.F.1    Charletta, D.2    Kumar, A.3    Belmont, H.4
  • 28
    • 0028962606 scopus 로고
    • Sensorineural hearing loss in patients with large vestibular aqueduct
    • Okumura T, Takahashi H, Honjo I, Takagi A, Mitamura K. 1995. Sensorineural hearing loss in patients with large vestibular aqueduct. Laryngoscope 105:289-294.
    • (1995) Laryngoscope , vol.105 , pp. 289-294
    • Okumura, T.1    Takahashi, H.2    Honjo, I.3    Takagi, A.4    Mitamura, K.5
  • 29
    • 0003408936 scopus 로고
    • Baltimore: Johns Hopkins University Press
    • Ott J. 1991. Analysis of human genetic linkage. Baltimore: Johns Hopkins University Press. p 203-216.
    • (1991) Analysis of Human Genetic Linkage , pp. 203-216
    • Ott, J.1
  • 30
    • 50549149000 scopus 로고
    • Deaf mutism and goitre
    • Pendred V. 1896. Deaf mutism and goitre. Lancet 2:532.
    • (1896) Lancet , vol.2 , pp. 532
    • Pendred, V.1
  • 32
    • 0030815949 scopus 로고    scopus 로고
    • Pendred syndrome - 100 years of under-ascertainment?
    • Reardon W, Trembath R. 1997. Pendred syndrome - 100 years of under-ascertainment? Q J Med 90:443-447.
    • (1997) Q J Med , vol.90 , pp. 443-447
    • Reardon, W.1    Trembath, R.2
  • 33
    • 0026658337 scopus 로고
    • Presentation of large vestibular aqueduct syndrome to a dizziness unit
    • Schessel DA, Nedzelski JM. 1992. Presentation of large vestibular aqueduct syndrome to a dizziness unit. J Otolaryngol 21:265-269.
    • (1992) J Otolaryngol , vol.21 , pp. 265-269
    • Schessel, D.A.1    Nedzelski, J.M.2
  • 34
    • 0018815738 scopus 로고
    • Mondini dysplasia; a clinical and pathological study
    • Schuknecht HF. 1980. Mondini dysplasia; a clinical and pathological study. Ann Otol Rhinol Laryngol Suppl 89:1-23.
    • (1980) Ann Otol Rhinol Laryngol Suppl , vol.89 , pp. 1-23
    • Schuknecht, H.F.1
  • 36
    • 0025485660 scopus 로고
    • Otic capsule dysplasia: Clinical and CT finding
    • Urman SM, Talbot JM. 1990. Otic capsule dysplasia: Clinical and CT finding. Radiographics 10:823-838.
    • (1990) Radiographics , vol.10 , pp. 823-838
    • Urman, S.M.1    Talbot, J.M.2
  • 37
    • 0020549791 scopus 로고
    • The large vestibular aqueduct and associated anomalies of the inner ear
    • Valvassori GE. 1983. The large vestibular aqueduct and associated anomalies of the inner ear. Otolaryngol Clin North Am 16:95-101.
    • (1983) Otolaryngol Clin North Am , vol.16 , pp. 95-101
    • Valvassori, G.E.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.