Two decades of screening for congenital hypothyroidism in the Netherlands: TPO gene mutations in total iodide organification defects (an update)

Journal of Clinical Endocrinology and Metabolism

Volumn 85, Issue 10, 2000, Pages 3708-3712

  Bakker, Bert ^a   Bikker, Hennie ^a   Vulsma, Thomas ^a   De Randamie, Janine S E ^a   Wiedijk, Brenda M ^a   De Vijlder, Jan J M ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM PERCHLORATE; THYROID PEROXIDASE; THYROXINE;

ARTICLE; CHILD; CHROMOSOME 2P; CLINICAL ARTICLE; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; MALE; MUTATION RATE; NETHERLANDS; PRIORITY JOURNAL; SCHOOL CHILD; SCREENING; THYROXINE BLOOD LEVEL; UNIPARENTAL DISOMY;

EID: 0033756917     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.85.10.6878     Document Type: Article

References (28)

1. Etiology and pathogenesis of congenital hypothyroidism. Evaluation and examination of patients detected by neonatal screening in the Netherlands
2. Hereditary metabolic disorders causing hypothyroidism
3. A study of a family with goitrous cretins
4. Abnormal thyroid peroxidase causing iodide organification defect
5. A 20-base pair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism
6. Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis
7. Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene
8. Hormone synthesis: Thyroid iodine metabolism
9. Human thyroid peroxidase: Complete cDNA and protein sequence, chromosome mapping, and identification of two alternately spliced mRNAs
10. Structure of the human thyroid peroxidase gene: Comparison and relationship to the human myeloperoxidase gene
11. Regional localization of the gene for thyroid peroxidase to human chromosome 2pter→p12
12. Regional localization of the gene for thyroid peroxidase to human chromosome 2p25 and mouse chromosome 12C
13. Anionic iodotyrosine residues are required for iodothyronine synthesis
14. Identification of a mutation in the coding sequence of human thyroid peroxidase gene causing congenital goiter
15. Specificity of restriction endonucleases and methylases - A review
16. Maternal-fetal transfer of thyroxine in congenital hypothyroidism due to a organification defect or thyroid agenesis
17. Purification of a novel flavoprotein involved in the thyroid NADPH oxidase
18. Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family
19. Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects
20. A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect
21. Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: Power and limits of homozygosity mapping
22. A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defects
23. Pendred syndrome: Evidence for genetic homogeneity and further refinement of linkage
24. Pendred syndrome is caused by mutations in a putative sulfate receptor gene (PDS)
25. Two frequent missense mutations in Pendred's syndrome
26. 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
27. In vivo radionuclide tests and imaging
28. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences