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Journal Abstract Search

155 related items for PubMed ID: 11375792

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  • 4. 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
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  • 5. 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; 88(6):2916-21. PubMed ID: 12788906
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  • 6. 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
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  • 7. 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
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  • 8. 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
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  • 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
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  • 10. 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
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  • 12. 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; 51(4):479-84. PubMed ID: 11919333
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  • 14. [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
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  • 15. Pendred syndrome.
    Wémeau JL, Kopp P.
    Best Pract Res Clin Endocrinol Metab; 2017 Mar; 31(2):213-224. PubMed ID: 28648509
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  • 19. 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
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  • 20. Female siblings with Pendred's syndrome.
    Nakagawa O, Ito S, Hanyu O, Yamazaki M, Urushiyama M, Tani N, Shibata A.
    Intern Med; 1994 Jun 02; 33(6):369-72. PubMed ID: 7919627
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