Joachim Pohlenz Selected Research

Hypothyroidism

05/2006	Congenital primary hypothyroidism with subsequent adenomatous goiter in a Turkish patient caused by a homozygous 10-bp deletion in the thyroid peroxidase (TPO) gene.
09/2005	Intrauterine therapy of goitrous hypothyroidism in a boy with a new compound heterozygous mutation (Y453D and C800R) in the thyroid peroxidase gene. A long-term follow-up.
11/2004	Congenital primary hypothyroidism in a turkish family caused by a homozygous nonsense mutation (R609X) in the thyrotropin receptor gene.
08/2004	Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.

4	Hypothyroidism 05/2006 - 08/2004
3	Congenital Hypothyroidism (Cretinism) 06/2007 - 12/2006
2	Hyperthyroidism 12/2006 - 01/2005
1	Goiter 05/2006

3	Iodide Peroxidase (Deiodinase)IBA 05/2007 - 09/2005
3	Thyrotropin Receptors (Thyrotropin Receptor)IBA 12/2006 - 11/2004
2	OxidoreductasesIBA 06/2007 - 12/2006
1	CarbimazoleIBA 01/2005
1	Nonsense Codon (Nonsense Mutation)IBA 11/2004
1	beta Subunit Thyrotropin (Thyrotropin-beta)IBA 08/2004