Joachim Pohlenz Selected Research

Congenital Hypothyroidism (Cretinism)

12/2016	Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation.
1/2014	A novel deletion in the thyrotropin Beta-subunit gene identified by array comparative genomic hybridization analysis causes central congenital hypothyroidism in a boy originating from Turkey.
5/2012	Minimally invasive follicular thyroid carcinoma developed in dyshormonogenetic multinodular goiter due to thyroid peroxidase gene mutation.
5/2011	A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion.
11/2009	Thyroid peroxidase gene mutations causing congenital hypothyroidism in three Turkish families.
6/2009	Two novel mutations in the human thyroid peroxidase (TPO) gene: genetics and clinical findings in four children.
2/2008	Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.
6/2007	Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor.
5/2007	Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis.
12/2006	Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene.

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Joachim Pohlenz Research Topics

Disease

12	Congenital Hypothyroidism (Cretinism) 12/2016 - 04/2003
9	Hypothyroidism 01/2020 - 08/2004
6	Goiter 01/2013 - 11/2004
3	Pseudohypoparathyroidism 01/2020 - 04/2003
2	Thyroid Dysgenesis (Thyroid Agenesis) 07/2013 - 01/2013
2	Polyhydramnios 06/2010 - 09/2005
2	Hyperthyroidism 12/2006 - 01/2005
1	And Neonatal Respiratory Distress Hypothyroidism Choreoathetosis 05/2017
1	Rare Diseases (Rare Disease) 12/2016
1	Down Syndrome (Down's Syndrome) 06/2014
1	Birth Weight (Birth Weights) 04/2014
1	Glycogen Storage Disease Type II (Pompe's Disease) 06/2012
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 06/2012
1	Disease Progression 06/2012
1	Sensorineural Hearing Loss 05/2012
1	Follicular Adenocarcinoma 05/2012
1	Thyroid Neoplasms (Thyroid Cancer) 05/2012
1	Hyperphosphatemia 01/2011
1	Hypocalcemia 01/2011
1	Gallstones (Gallstone) 01/2011
1	Neoplasms (Cancer) 11/2010
1	Neoplasm Metastasis (Metastasis) 11/2010
1	Papillary Thyroid Cancer 11/2010
1	Thyroid Nodule (Nodule, Thyroid) 06/2009
1	Chorea (Rheumatic Chorea) 03/2009
1	Thyroid Dyshormonogenesis 1 02/2008
1	Pendred syndrome 07/2006
1	Infections 04/2005
1	Nonautoimmune Hyperthyroidism 01/2005
1	Pseudopseudohypoparathyroidism 04/2003
1	Ectodermal Dysplasia (Aplasia Cutis Congenita) 05/2002

Drug/Important Bio-Agent (IBA)

8	Iodide Peroxidase (Deiodinase)IBA 05/2012 - 09/2005
5	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 12/2016 - 11/2004
5	Thyroxine (Levothyroxine)FDA LinkGeneric 06/2014 - 04/2003
5	Thyrotropin Receptors (Thyrotropin Receptor)IBA 01/2013 - 11/2004
4	Proteins (Proteins, Gene)FDA Link 01/2020 - 05/2002
3	IodidesIBA 05/2012 - 07/2006
3	Dual OxidasesIBA 05/2011 - 12/2006
2	Transcription Factors (Transcription Factor)IBA 05/2017 - 07/2013
2	Thyroid HormonesIBA 12/2016 - 04/2003
2	Radioisotopes (Radionuclides)IBA 04/2014 - 01/2013
2	beta Subunit Thyrotropin (Thyrotropin-beta)IBA 01/2014 - 08/2004
1	Transient Receptor Potential ChannelsIBA 01/2020
1	Biomarkers (Surrogate Marker)IBA 01/2020
1	Iloprost (Ventavis)FDA Link 01/2020
1	methyl 4,6-O-benzylidene-idopyranosideIBA 05/2017
1	Sodium Pertechnetate Tc 99m (Pertechnetate)FDA Link 04/2014
1	DNA (Deoxyribonucleic Acid)IBA 07/2013
1	Thyroglobulin FDA Link 01/2013
1	EnzymesIBA 06/2012
1	alpha-Glucosidases (Acid Maltase)IBA 06/2012
1	AcidsIBA 06/2012
1	Phenylalanine (L-Phenylalanine)FDA Link 05/2012
1	Codon (Codons)IBA 05/2012
1	Serine (L-Serine)FDA Link 05/2012
1	CholesterolIBA 01/2011
1	Parathyroid Hormone (Parathormone)IBA 01/2011
1	RacivirIBA 11/2010
1	Receptor Protein-Tyrosine Kinases (Tyrosine Kinase Receptors)IBA 11/2010
1	Triiodothyronine (Liothyronine)FDA LinkGeneric 03/2009
1	Complement System Proteins (Complement)IBA 04/2005
1	CarbimazoleIBA 01/2005
1	Adenosine Monophosphate (AMP)IBA 11/2004
1	Nonsense Codon (Nonsense Mutation)IBA 11/2004
1	CalciumIBA 04/2003
1	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 05/2002

Therapy/Procedure

3	Therapeutics 06/2012 - 01/2005
2	Thyroidectomy 05/2012 - 11/2004
1	Cholecystectomy 01/2011
1	Conservative Treatment 06/2010