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3. 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 [TBL] [Abstract][Full Text] [Related]
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5. 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 [TBL] [Abstract][Full Text] [Related]
6. 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 [TBL] [Abstract][Full Text] [Related]
7. 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 [TBL] [Abstract][Full Text] [Related]
8. 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 [TBL] [Abstract][Full Text] [Related]
9. 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 [TBL] [Abstract][Full Text] [Related]
10. Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping. Pannain S; Weiss RE; Jackson CE; Dian D; Beck JC; Sheffield VC; Cox N; Refetoff S J Clin Endocrinol Metab; 1999 Mar; 84(3):1061-71. PubMed ID: 10084596 [TBL] [Abstract][Full Text] [Related]
11. Mondini cochlea in Pendred's syndrome. A histological study. Johnsen T; Jørgensen MB; Johnsen S Acta Otolaryngol; 1986; 102(3-4):239-47. PubMed ID: 3776519 [TBL] [Abstract][Full Text] [Related]
12. Normal thyroglobulin and thyroperoxidase gene expression in thyroid congenital defective thyroglobulin synthesis. Targovnik HM; Varela V; Abatangelo C; Wajchenberg BL; Medeiros-Neto G Thyroid; 1991; 1(4):339-45. PubMed ID: 1726786 [TBL] [Abstract][Full Text] [Related]
13. 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 [TBL] [Abstract][Full Text] [Related]
14. 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 [TBL] [Abstract][Full Text] [Related]
15. Thyroids from siblings with Pendred's syndrome contain thyroglobulin messenger ribonucleic acid variants. Mason ME; Dunn AD; Wortsman J; Day RN; Day KH; Hoback SJ; Myers HE; Shupnik MA; Dunn JT J Clin Endocrinol Metab; 1995 Feb; 80(2):497-503. PubMed ID: 7852510 [TBL] [Abstract][Full Text] [Related]
16. Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. Sheffield VC; Kraiem Z; Beck JC; Nishimura D; Stone EM; Salameh M; Sadeh O; Glaser B Nat Genet; 1996 Apr; 12(4):424-6. PubMed ID: 8630498 [TBL] [Abstract][Full Text] [Related]
18. Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis. Targovnik H; Propato F; Varela V; Wajchenberg B; Knobel M; D'Abronzo HF; Medeiros-Neto G J Clin Endocrinol Metab; 1989 Dec; 69(6):1137-47. PubMed ID: 2584351 [TBL] [Abstract][Full Text] [Related]
19. Pituitary-thyroid function in Pendred's syndrome. Gomez-Pan A; Evered DC; Hall R Br Med J; 1974 Apr; 2(5911):152-3. PubMed ID: 4132986 [TBL] [Abstract][Full Text] [Related]