Long-term audiological feature in pendred syndrome caused by PDS mutation

Archives of Otolaryngology - Head and Neck Surgery

Volumn 127, Issue 6, 2001, Pages 705-708

  Iwasaki, S ^a   Usami, S I ^a   Abe, S ^a   Isoda, H ^a   Watanabe, T ^a   Hoshino, T ^a  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; FEMALE; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PENDRED SYNDROME; PERCEPTION DEAFNESS; VESTIBULE AQUEDUCT;

EID: 0034900228     PISSN: 08864470     EISSN: None     Source Type: Journal    
DOI: 10.1001/archotol.127.6.705     Document Type: Article

References (21)

1. Deaf-mutism and goitre
2. Association of congenital deafness with goitre (Pendred's syndrome): A study of 207 families
3. Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome
4. The large vestibular aqueduct syndrome
5. Pendred's syndrome: Acoustic, vestibular and radiological findings in 17 unrelated patients
6. Pendred's syndrome with episodic vertigo, tinnitus and vomiting and normal bithermal caloric responses
7. Pendred's syndrome: A study of patients and relatives
8. Pendred's syndrome
9. Pitfalls in practice: Diagnosis and misdiagnosis in Pendred syndrome
10. The Pendred syndrome gene encodes a chloride-iodide transport protein
11. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations
12. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
13. Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene
14. The large vestibular aqueduct and associated anomalies of the inner ear
15. Postnatal development of the vestibular aqueduct and endolymphatic sac
16. The endolymphatic sac in Mondini disorder
17. Alpha and beta thyroid hormone receptor (TR) gene expression during auditory neurogenesis: Evidence for TR isoform-specific transcriptional regulation in vivo
18. Expression pattern of the mouse ortholog of the Pendred's syndrome gene (PDS) suggests a key role for pendrin in the inner ear
19. Three familial cases of hearing loss associated with enlargement of the vestibular aqueduct
20. Two frequent missense mutations in Pendred syndrome
21. Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre)