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Journal Abstract Search
115 related items for PubMed ID: 7919627
1. Female siblings with Pendred's syndrome. Nakagawa O, Ito S, Hanyu O, Yamazaki M, Urushiyama M, Tani N, Shibata A. Intern Med; 1994 Jun; 33(6):369-72. PubMed ID: 7919627 [Abstract] [Full Text] [Related]
2. Pendred's syndrome: identification of the genetic defect a century after its recognition. Kopp P. Thyroid; 1999 Jan; 9(1):65-9. PubMed ID: 10037079 [Abstract] [Full Text] [Related]
3. Pendred's syndrome: a study of patients and relatives. Jamal MN, Arnaout MA, Jarrar R. Ann Otol Rhinol Laryngol; 1995 Dec; 104(12):957-62. PubMed ID: 7492068 [Abstract] [Full Text] [Related]
4. Two Chinese families with Pendred's syndrome--radiological imaging of the ear and molecular analysis of the pendrin gene. Yong AM, Goh SS, Zhao Y, Eng PH, Koh LK, Khoo DH. J Clin Endocrinol Metab; 2001 Aug; 86(8):3907-11. PubMed ID: 11502831 [Abstract] [Full Text] [Related]
5. Clinical and molecular analysis of three Mexican families with Pendred's syndrome. Gonzalez Trevino O, Karamanoglu Arseven O, Ceballos CJ, Vives VI, Ramirez RC, Gomez VV, Medeiros-Neto G, Kopp P. Eur J Endocrinol; 2001 Jun; 144(6):585-93. PubMed ID: 11375792 [Abstract] [Full Text] [Related]
6. Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome. Fugazzola L, Mannavola D, Cerutti N, Maghnie M, Pagella F, Bianchi P, Weber G, Persani L, Beck-Peccoz P. J Clin Endocrinol Metab; 2000 Jul; 85(7):2469-75. PubMed ID: 10902795 [Abstract] [Full Text] [Related]
7. [Pendred's syndrome: a cause of goiter associated with deafness]. Vázquez AG, Montesinos IG, Jiménez AM, García JA, García JG, Hernández JA. Endocrinol Nutr; 2009 Oct; 56(8):428-30. PubMed ID: 19959154 [Abstract] [Full Text] [Related]
8. Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome. Cremers CW, Admiraal RJ, Huygen PL, Bolder C, Everett LA, Joosten FB, Green ED, van Camp G, Otten BJ. Int J Pediatr Otorhinolaryngol; 1998 Oct 02; 45(2):113-23. PubMed ID: 9849679 [Abstract] [Full Text] [Related]
9. Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred's syndrome. Gillam MP, Bartolone L, Kopp P, Benvenga S. Thyroid; 2005 Jul 02; 15(7):734-41. PubMed ID: 16053392 [Abstract] [Full Text] [Related]
10. A novel mutation in the pendrin gene associated with Pendred's syndrome. Bogazzi F, Raggi F, Ultimieri F, Campomori A, Cosci C, Berrettini S, Neri E, La Rocca R, Ronca G, Martino E, Bartalena L. Clin Endocrinol (Oxf); 2000 Mar 02; 52(3):279-85. PubMed ID: 10718825 [Abstract] [Full Text] [Related]
11. Mondini cochlea in Pendred's syndrome. A histological study. Johnsen T, Jørgensen MB, Johnsen S. Acta Otolaryngol; 1986 Mar 02; 102(3-4):239-47. PubMed ID: 3776519 [Abstract] [Full Text] [Related]
12. Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome. Gausden E, Armour JA, Coyle B, Coffey R, Hochberg Z, Pembrey M, Britton KE, Grossman A, Reardon W, Trembath R. Clin Endocrinol (Oxf); 1996 Apr 02; 44(4):441-6. PubMed ID: 8706311 [Abstract] [Full Text] [Related]
13. Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene. Kopp P, Arseven OK, Sabacan L, Kotlar T, Dupuis J, Cavaliere H, Santos CL, Jameson JL, Medeiros-Neto G. J Clin Endocrinol Metab; 1999 Jan 02; 84(1):336-41. PubMed ID: 9920104 [Abstract] [Full Text] [Related]
14. Pendred's syndrome. Acoustic, vestibular and radiological findings in 17 unrelated patients. Johnsen T, Larsen C, Friis J, Hougaard-Jensen F. J Laryngol Otol; 1987 Nov 02; 101(11):1187-92. PubMed ID: 3694034 [Abstract] [Full Text] [Related]
15. Do not overlook Pendred's syndrome in children with sensorineural hearing loss. Caksen H, Kurtoglu S, Yüksel S, Ciftçi A, Kendirci M. Ear Nose Throat J; 2001 Oct 02; 80(10):760. PubMed ID: 11605577 [No Abstract] [Full Text] [Related]
16. Pendred's syndrome with goiter and enlarged vestibular aqueducts diagnosed by PDS gene mutation. Ishinaga H, Shimizu T, Yuta A, Tsukamoto K, Usami S, Majima Y. Head Neck; 2002 Jul 02; 24(7):710-3. PubMed ID: 12112546 [Abstract] [Full Text] [Related]
17. Surprising news: a putative sulfate transporter is defective in Pendred's syndrome. Rutishauser J, Kopp P. Eur J Endocrinol; 1998 Jun 02; 138(6):623-4. PubMed ID: 9678527 [No Abstract] [Full Text] [Related]
18. Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation. Borck G, Roth C, Martiné U, Wildhardt G, Pohlenz J. J Clin Endocrinol Metab; 2003 Jun 02; 88(6):2916-21. PubMed ID: 12788906 [Abstract] [Full Text] [Related]
19. Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. Blons H, Feldmann D, Duval V, Messaz O, Denoyelle F, Loundon N, Sergout-Allaoui A, Houang M, Duriez F, Lacombe D, Delobel B, Leman J, Catros H, Journel H, Drouin-Garraud V, Obstoy MF, Toutain A, Oden S, Toublanc JE, Couderc R, Petit C, Garabédian EN, Marlin S. Clin Genet; 2004 Oct 02; 66(4):333-40. PubMed ID: 15355436 [Abstract] [Full Text] [Related]
20. Aggressive metastatic follicular thyroid carcinoma with anaplastic transformation arising from a long-standing goiter in a patient with Pendred's syndrome. Camargo R, Limbert E, Gillam M, Henriques MM, Fernandes C, Catarino AL, Soares J, Alves VA, Kopp P, Medeiros-Neto G. Thyroid; 2001 Oct 02; 11(10):981-8. PubMed ID: 11716048 [Abstract] [Full Text] [Related] Page: [Next] [New Search]