메뉴 건너뛰기




Volumn 262, Issue 9, 2005, Pages 737-743

Long-term follow-up in patients with Pendred syndrome: Vestibular, auditory and other phenotypes

Author keywords

Enlarged vestibular aqueduct; Fluctuating hearing loss; Pendred syndrome; SLC26A4 gene; Vertigo

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; FEMALE; FOLLOW UP; GENE MUTATION; HEARING; HETEROZYGOSITY; HUMAN; LONG TERM CARE; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OTORHINOLARYNGOLOGY; PENDRED SYNDROME; PHENOTYPE; PRIORITY JOURNAL; VERTIGO; VESTIBULE AQUEDUCT;

EID: 26444548592     PISSN: 09374477     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00405-004-0884-z     Document Type: Article
Times cited : (46)

References (24)
  • 4
    • 49749185875 scopus 로고
    • Association of congenital deafness with goiter: The nature of the thyroid defect
    • Morgans ME, Trotter WR (1958) Association of congenital deafness with goiter: the nature of the thyroid defect. Lancet 1:607-609
    • (1958) Lancet , vol.1 , pp. 607-609
    • Morgans, M.E.1    Trotter, W.R.2
  • 5
    • 0033578352 scopus 로고    scopus 로고
    • Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear
    • USA
    • Everett LA, Morsli H, Wu DK, Green ED (1999) Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear. Proc Natl Acad Sci USA 96:9727-9732
    • (1999) Proc Natl Acad Sci , vol.96 , pp. 9727-9732
    • Everett, L.A.1    Morsli, H.2    Wu, D.K.3    Green, E.D.4
  • 8
    • 0028856092 scopus 로고
    • Advanced techniques in magnetic resonance imaging in the evaluation of the large endolymphatic duct and sac syndrome
    • Harnsberger HR, Dahlen RT, Shelton C, Gray SD, Parkin JL (1995) Advanced techniques in magnetic resonance imaging in the evaluation of the large endolymphatic duct and sac syndrome. Laryngoscope 105:1037-1042
    • (1995) Laryngoscope , vol.105 , pp. 1037-1042
    • Harnsberger, H.R.1    Dahlen, R.T.2    Shelton, C.3    Gray, S.D.4    Parkin, J.L.5
  • 10
    • 0028022157 scopus 로고
    • Fluctuating and/or progressive sensorineural hearing loss in children
    • Brookhouser PE, Worthington DW, Kelly WJ (1994) Fluctuating and/or progressive sensorineural hearing loss in children. Laryngoscope 104:958-964
    • (1994) Laryngoscope , vol.104 , pp. 958-964
    • Brookhouser, P.E.1    Worthington, D.W.2    Kelly, W.J.3
  • 11
    • 0033772575 scopus 로고    scopus 로고
    • MR imaging of the enlarged endolymphatic duct and sac syndrome by use of a 3D-fast asymmetric spin-echo sequence: Volume and signal-intensity measurement of the endolymphatic duct and sac and area measurement of the cochlea modiolus
    • Naganawa S, Koshikawa T, Iwayama E, Fukatsu H, Ishiguchi T, Ishigaki T, Ikeda M, Nakashima T, Ichinose N (2000) MR imaging of the enlarged endolymphatic duct and sac syndrome by use of a 3D-fast asymmetric spin-echo sequence: volume and signal-intensity measurement of the endolymphatic duct and sac and area measurement of the cochlea modiolus. Am J Neuroradiol 21:1664-1669
    • (2000) Am J Neuroradiol , vol.21 , pp. 1664-1669
    • Naganawa, S.1    Koshikawa, T.2    Iwayama, E.3    Fukatsu, H.4    Ishiguchi, T.5    Ishigaki, T.6    Ikeda, M.7    Nakashima, T.8    Ichinose, N.9
  • 13
    • 0017164127 scopus 로고
    • Het syndroom van Pendred. Een autosomaal recessief syndroom met doofheid en een synthesestoornis in de schildklier. T
    • Cremers CWRJ (1976) Het syndroom van Pendred. Een autosomaal recessief syndroom met doofheid en een synthesestoornis in de schildklier. T. Kindergeneesk 44:89-99
    • (1976) Kindergeneesk , vol.44 , pp. 89-99
    • Cremers, C.W.R.J.1
  • 15
    • 0033015606 scopus 로고    scopus 로고
    • Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations
    • Usami S, Abe S, Weston MD, Shinkawa H, Camp GV, Kimberling WJ (1999) Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet 104:188-192
    • (1999) Hum Genet , vol.104 , pp. 188-192
    • Usami, S.1    Abe, S.2    Weston, M.D.3    Shinkawa, H.4    Camp, G.V.5    Kimberling, W.J.6
  • 17
    • 26444560134 scopus 로고
    • Evaluation of the distribution and movement of iodine in the environment
    • Muramatsu Y, Ohmomo Y (1988) Evaluation of the distribution and movement of iodine in the environment. Hoshasenkagaku (in Japanese) 31:199-203
    • (1988) Hoshasenkagaku (in Japanese) , vol.31 , pp. 199-203
    • Muramatsu, Y.1    Ohmomo, Y.2
  • 21
    • 0038636912 scopus 로고    scopus 로고
    • Enlarged vestibular aqueduct syndrome in the pediatric population
    • Madden C, Halsted M, Benton C, Greinwald J, Choo D (2003) Enlarged vestibular aqueduct syndrome in the pediatric population. Otol Neurotol 24:625-632
    • (2003) Otol Neurotol , vol.24 , pp. 625-632
    • Madden, C.1    Halsted, M.2    Benton, C.3    Greinwald, J.4    Choo, D.5
  • 22
    • 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
  • 23
    • 0028962606 scopus 로고
    • Sensorineural hearing loss in patients with large vestibular aqueduct
    • Okamura 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
    • Okamura, T.1    Takahashi, H.2    Honjo, I.3    Takagi, A.4    Mitamura, K.5
  • 24
    • 0032743858 scopus 로고    scopus 로고
    • MR imaging of the cochlea modiolus: Area measurement in healthy subjects and in patients with a large endolymphatic duct and sac
    • Naganawa S, Ito T, Iwayama E, Fukatsu H, Ishigaki T, Nakashima T, Ichinose N (1999) MR imaging of the cochlea modiolus: area measurement in healthy subjects and in patients with a large endolymphatic duct and sac. Radiology 231:819-823
    • (1999) Radiology , vol.231 , pp. 819-823
    • Naganawa, S.1    Ito, T.2    Iwayama, E.3    Fukatsu, H.4    Ishigaki, T.5    Nakashima, T.6    Ichinose, N.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.