Thyroiddyshormonogenesis 2a
Die Thyroiddyshormonogenesis 2a ist eine autosomal rezessive Erkrankung der Schilddrüsenhormonbildung mit ungenügenden Schilddrüsenhormonwerten und Struma, die durch Mutationen im TPO-Gen verursacht wird.
Gliederung
Referenzen:
| 1. |
Park SM et. al. (2005) Genetics of congenital hypothyroidism. [^] |
| 2. |
Vono-Toniolo J et. al. (2005) Naturally occurring mutations in the thyroglobulin gene. [^] |
| 3. |
Couch RM et. al. (1985) Congenital hypothyroidism caused by defective iodide transport. [^] |
| 4. |
Abramowicz MJ et. al. (1992) Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. [^] |
| 5. |
Bikker H et. al. (1995) Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis. [^] |
| 6. |
Bikker H et. al. (1994) A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism. [^] |
| 7. |
Bikker H et. al. (1996) Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene. [^] |
| 8. |
Medeiros-Neto G et. al. (1998) Metastatic thyroid carcinoma arising from congenital goiter due to mutation in the thyroperoxidase gene. [^] |
| 9. |
Pannain S et. al. (1999) Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping. [^] |
| 10. |
Bakker B et. al. (2000) Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update). [^] |
| 11. |
None (1964) DEFECTIVE COUPLING OF IODOTYROSINE IN FAMILIAL GOITERS; REPORT OF TWO PATIENTS. [^] |
| 12. |
None (1964) GENETIC STUDIES IN FAMILIAL GOITROUS CRETINISM. [^] |
| 13. |
Cavarzere P et. al. (2008) Clinical description of infants with congenital hypothyroidism and iodide organification defects. [^] |
| 14. |
Niepomniszcze H et. al. (1975) Differentiation of two abnormalities in thyroid peroxidase causing organification defect and goitrous hypothyroidism. [^] |
| 15. |
Perez-Cuvit E et. al. (1977) Partial and total iodide organification defect in different sibships in a kindred. [^] |
| 16. |
Pommier J et. al. (1976) Thyroid iodine organification defects: a case with lack of thyroglobulin iodination and a case without any peroxidase activity. [^] |
| 17. |
Anker R et. al. (1992) Tetranucleotide repeat polymorphism at the human thyroid peroxidase (hTPO) locus. [^] |
| 18. |
Mangklabruks A et. al. (1991) Genetic linkage studies of thyroid peroxidase (TPO) gene in families with TPO deficiency. [^] |
| 19. |
Alexander NM et. al. (1970) Thyroxine biosynthesis in human goitrous cretinism. [^] |
| 20. |
Hagen GA et. al. (1971) Peroxidase deficiency in familial goiter with iodide organification defect. [^] |
| 21. |
Niepomniszcze H et. al. (1973) Peroxidase defect in congenital goiter with complete organification block. [^] |
| 22. |
Pommier J et. al. (1974) A defective thyroid peroxidase solubilized from a familial goiter with iodine organification defect. [^] |
| 23. |
None (1983) Congenital goiter with defective iodide transport. [^] |
| 24. |
Medeiros-Neto GA et. al. (1982) Familial thyroid peroxidase defect. [^] |
| 25. |
PARKER RH et. al. (1961) Inheritance of defective organification of iodine in familial goitrous cretinism. [^] |
| 26. |
HADDAD HM et. al. (1959) Defect of the iodinating system in congenital goitrous cretinism: report of a case with biochemical studies. [^] |
