Thyroiddyshormonogenesis ist eine Gruppe von Erkrankungen mit zu niedrigen Schilddrüsenhormon-Spiegeln und Struma, die auf eine geentische Störung der Hormonsysthese beruhen.
1. |
Baas F et al. (1984) Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele. |
2. |
Cavarzere P et al. (2008) Clinical description of infants with congenital hypothyroidism and iodide organification defects. |
3. |
None (1964) GENETIC STUDIES IN FAMILIAL GOITROUS CRETINISM. |
4. |
None (1964) DEFECTIVE COUPLING OF IODOTYROSINE IN FAMILIAL GOITERS; REPORT OF TWO PATIENTS. |
5. |
MICHEL R et al. (1964) THYROIDAL IODOPROTEINS IN PATIENTS WITH GOITROUS HYPOTHYROIDISM. |
6. |
Medeiros-Neto G et al. (1997) Prenatal diagnosis and treatment of dyshormonogenetic fetal goiter due to defective thyroglobulin synthesis. |
7. |
Yoshida S et al. (1996) A variant of adenomatous goiter with characteristic histology and possible hereditary thyroglobulin abnormality. |
9. |
Lever EG et al. (1983) Inherited disorders of thyroid metabolism. |
10. |
KUSAKABE T et al. (1964) THYROIDAL DEIODINATION DEFECT IN THREE SISTERS WITH SIMPLE GOITER. |
11. |
KUSAKABE T et al. (1963) Defective deiodination of I-131-labeled L-diiodotyrosine in patients with simple goiter. |
12. |
Afink G et al. (2008) Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism. |
13. |
Moreno JC et al. (2008) Mutations in the iodotyrosine deiodinase gene and hypothyroidism. |
14. |
HUTCHISON JH et al. (1954) Hypothyroidism as an inborn error of metabolism. |
15. |
Vigone MC et al. (2005) Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings. |
16. |
Moreno JC et al. (2002) Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. |
17. |
Kanou Y et al. (2007) Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity. |
18. |
Hishinuma A et al. (2006) Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan. |
19. |
Kitanaka S et al. (2006) A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels. |
21. |
Hishinuma A et al. (2005) High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations. |
22. |
Vono-Toniolo J et al. (2005) Naturally occurring mutations in the thyroglobulin gene. |
24. |
Park SM et al. (2005) Genetics of congenital hypothyroidism. |
25. |
Orphanet article Orphanet ID 95716 |