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161 related items for PubMed ID: 10902795

  • 1. 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]

  • 2. 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; 84(1):336-41. PubMed ID: 9920104
    [Abstract] [Full Text] [Related]

  • 3. 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; 52(3):279-85. PubMed ID: 10718825
    [Abstract] [Full Text] [Related]

  • 4. 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; 15(7):734-41. PubMed ID: 16053392
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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]

  • 7. 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]

  • 8. 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; 44(4):441-6. PubMed ID: 8706311
    [Abstract] [Full Text] [Related]

  • 9. 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; 11(10):981-8. PubMed ID: 11716048
    [Abstract] [Full Text] [Related]

  • 10. 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; 66(4):333-40. PubMed ID: 15355436
    [Abstract] [Full Text] [Related]

  • 11. The role of pendrin in iodide regulation.
    Fugazzola L, Cerutti N, Mannavola D, Vannucchi G, Beck-Peccoz P.
    Exp Clin Endocrinol Diabetes; 2001 Oct; 109(1):18-22. PubMed ID: 11573133
    [Abstract] [Full Text] [Related]

  • 12. The variable intrafamiliar expressivity in Pendred's syndrome.
    Johnsen T, Sørensen MS, Feldt-Rasmussen U, Friis J.
    Clin Otolaryngol Allied Sci; 1989 Oct; 14(5):395-9. PubMed ID: 2582634
    [Abstract] [Full Text] [Related]

  • 13. Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear.
    Everett LA, Morsli H, Wu DK, Green ED.
    Proc Natl Acad Sci U S A; 1999 Aug 17; 96(17):9727-32. PubMed ID: 10449762
    [Abstract] [Full Text] [Related]

  • 14. Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.
    Fugazzola L, Cerutti N, Mannavola D, Crino A, Cassio A, Gasparoni P, Vannucchi G, Beck-Peccoz P.
    Pediatr Res; 2002 Apr 17; 51(4):479-84. PubMed ID: 11919333
    [Abstract] [Full Text] [Related]

  • 15. [Pendred's syndrome. Current features].
    Wémeau JL, Vlaeminck-Guillem V, Dubrulle F, Dumur V, Vincent C.
    Presse Med; 2001 Nov 17; 30(34):1689-94. PubMed ID: 11760600
    [Abstract] [Full Text] [Related]

  • 16. 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 17; 86(8):3907-11. PubMed ID: 11502831
    [Abstract] [Full Text] [Related]

  • 17. 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 17; 24(7):710-3. PubMed ID: 12112546
    [Abstract] [Full Text] [Related]

  • 18. Pendred's syndrome.
    Hashmi MI, Khan MJ, Abbasi N, Cheema IA, Qasim G.
    J Coll Physicians Surg Pak; 2003 Aug 17; 13(8):463-4. PubMed ID: 12921687
    [Abstract] [Full Text] [Related]

  • 19. [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 17; 56(8):428-30. PubMed ID: 19959154
    [Abstract] [Full Text] [Related]

  • 20. 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]

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