PubMed

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.PMID: 15355436 [PubMed - indexed for MEDLINE]Related articles

Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct.

Bogazzi F, Russo D, Raggi F, Ultimieri F, Berrettini S, Forli F, Grasso L, Ceccarelli C, Mariotti S, Pinchera A, Bartalena L, Martino E.

J Endocrinol Invest. 2004 May;27(5):430-5.PMID: 15279074 [PubMed - indexed for MEDLINE]Related articles

Congenital hypothyroidism caused by a unique thyroid peroxidase allele containing two mutations, C1708T and C2737T.

Umeki K, Yamamoto I, Yukizane S, Kotani T.

J Pediatr Endocrinol Metab. 2004 Feb;17(2):231-4.PMID: 15055360 [PubMed - indexed for MEDLINE]Related articles

Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect.

Nascimento AC, Guedes DR, Santos CS, Knobel M, Rubio IG, Medeiros-Neto G.

Thyroid. 2003 Dec;13(12):1145-51.PMID: 14751036 [PubMed - indexed for MEDLINE]Related articles

Perchlorate in milk.

Kirk AB, Smith EE, Tian K, Anderson TA, Dasgupta PK.

Environ Sci Technol. 2003 Nov 1;37(21):4979-81.PMID: 14620826 [PubMed - indexed for MEDLINE]Related articles

Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.

Tsukamoto K, Suzuki H, Harada D, Namba A, Abe S, Usami S.

Eur J Hum Genet. 2003 Dec;11(12):916-22.PMID: 14508505 [PubMed - indexed for MEDLINE]Related articlesFree article

ASSOCIATION OF CONGENITAL DEAFNESS WITH GOITRE (PENDRED'S SYNDROME) A STUDY OF 207 FAMILIES.

FRASER GR.

Ann Hum Genet. 1965 Mar;28:201-49. No abstract available. PMID: 14304636 [PubMed - indexed for MEDLINE]Related articles

NONENDEMIC GOITRE AND DEAFNESS.

NILSSON LR, BORGFORS N, GAMSTORP I, HOLST HE, LIDEN G.

Acta Paediatr. 1964 Mar;53:117-31. No abstract available. PMID: 14128171 [PubMed - indexed for MEDLINE]Related articles

The mode of action of perchlorate ions on the iodine uptake of the thyroid gland.

ANBAR M, GUTTMANN S, LEWITUS Z.

Int J Appl Radiat Isot. 1959 Dec;7:87-96. No abstract available. PMID: 13793274 [PubMed - indexed for MEDLINE]Related articles

Placental transfer of perchlorate and triiodothyronine in the guinea pig.

POSTEL S.

Endocrinology. 1957 Jan;60(1):53-66. No abstract available. PMID: 13384383 [PubMed - indexed for MEDLINE]Related articles

The effects of iodine, perchlorate, thiocyanate, and nitrate administration upon the iodide concentrating mechanism of the rat thyroid.

WYNGAARDEN JB, STANBURY JB, RAPP B.

Endocrinology. 1953 May;52(5):568-74. No abstract available. PMID: 13060263 [PubMed - OLDMEDLINE]Related articles

Effect of perchlorate on the human thyroid gland.

STANBURY JB, WYNGAARDEN JB.

Metabolism. 1952 Nov;1(6):533-9. No abstract available. PMID: 13002073 [PubMed - indexed for MEDLINE]Related articles

Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.

Tekin M, Akçayöz D, Comak E, Boğoçlu G, Duman T, Fitoz S, Ilhan I, Akar N.

Clin Genet. 2003 Oct;64(4):371-4. No abstract available. PMID: 12974744 [PubMed - indexed for MEDLINE]Related articles

Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.

Rivolta CM, Esperante SA, Gruñeiro-Papendieck L, Chiesa A, Moya CM, Domené S, Varela V, Targovnik HM.

Hum Mutat. 2003 Sep;22(3):259.PMID: 12938097 [PubMed - indexed for MEDLINE]Related articles

The role of genetic polymorphisms in environmental health.

Kelada SN, Eaton DL, Wang SS, Rothman NR, Khoury MJ.

Environ Health Perspect. 2003 Jun;111(8):1055-64. Review.PMID: 12826477 [PubMed - indexed for MEDLINE]Related articlesFree article

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ.

J Med Genet. 2003 Apr;40(4):242-8.PMID: 12676893 [PubMed - indexed for MEDLINE]Related articlesFree article

Challenges confronting risk analysis of potential thyroid toxicants.

Zoeller RT.

Risk Anal. 2003 Feb;23(1):143-62. Review.PMID: 12635729 [PubMed - indexed for MEDLINE]Related articles

The sodium/iodide Symporter (NIS): characterization, regulation, and medical significance.

Dohán O, De la Vieja A, Paroder V, Riedel C, Artani M, Reed M, Ginter CS, Carrasco N.

Endocr Rev. 2003 Feb;24(1):48-77. Review.PMID: 12588808 [PubMed - indexed for MEDLINE]Related articlesFree article

High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect.

Niu DM, Hwang B, Chu YK, Liao CJ, Wang PL, Lin CY.

J Clin Endocrinol Metab. 2002 Sep;87(9):4208-12.PMID: 12213873 [PubMed - indexed for MEDLINE]Related articlesFree article

Health effects assessment for environmental perchlorate contamination: the dose response for inhibition of thyroidal radioiodine uptake in humans.

Greer MA, Goodman G, Pleus RC, Greer SE.

Environ Health Perspect. 2002 Sep;110(9):927-37. Erratum in: Environ Health Perspect. 2005 Nov;113(11):A732. PMID: 12204829 [PubMed - indexed for MEDLINE]Related articlesFree article