Denise Horn Selected Research

Myositis Ossificans (Fibrodysplasia Ossificans Progressiva)

1/2012

Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance.

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Denise Horn Research Topics

Disease

12	Intellectual Disability (Idiocy) 01/2019 - 03/2010
5	Seizures (Absence Seizure) 01/2018 - 07/2011
4	Muscle Hypotonia (Hypotonia) 01/2018 - 07/2011
3	Hyperphosphatasia with Mental Retardation 01/2018 - 07/2012
2	Contracture 10/2022 - 02/2010
2	Epilepsy (Aura) 12/2021 - 01/2019
2	Cohen syndrome 02/2015 - 10/2011
2	Angelman Syndrome (Syndrome, Angelman) 01/2013 - 05/2004
2	Prader-Willi Syndrome (Syndrome, Prader-Willi) 01/2013 - 02/2005
2	Primary Hypertrophic Osteoarthropathy (Hypertrophic Osteoarthropathy, Primary) 04/2012 - 12/2009
1	Arthrogryposis 10/2022
1	Malignant Atrophic Papulosis 01/2022
1	Syndactyly (Polysyndactyly) 12/2021
1	Cognitive Dysfunction 12/2021
1	Respiratory Tract Infections (Respiratory Tract Infection) 06/2021
1	KBG syndrome 01/2021
1	De Lange Syndrome (Cornelia De Lange Syndrome) 01/2021
1	type 2 Syndactyly 01/2021
1	Liver Failure 11/2020
1	Acute Liver Failure (Fulminant Hepatic Failure) 07/2019
1	Neurodevelopmental Disorders 01/2019
1	Thrombocytopenia (Thrombopenia) 10/2018
1	Channelopathies 09/2018
1	Robinow Syndrome 01/2018
1	Bilateral Frontoparietal Polymicrogyria 09/2017
1	Neurologic Manifestations (Neurological Manifestations) 09/2017
1	Chromosome 15q13.3 Microdeletion Syndrome 05/2017
1	Ataxia (Dyssynergia) 05/2017
1	Gordon syndrome 01/2017
1	Hearing Loss (Hearing Impairment) 02/2016
1	Malformed Nails (Pachyonychia) 02/2016
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2016
1	Acrocephalosyndactylia (Apert Syndrome) 08/2015
1	Catel Manzke syndrome 12/2014
1	Anophthalmos (Anophthalmia) 06/2014
1	Type E Brachydactyly 07/2013
1	Congenital Disorders of Glycosylation 04/2013
1	Uniparental Disomy 01/2013
1	Oculocutaneous Albinism (Albinism, Yellow Mutant) 01/2013
1	Oculocutaneous albinism type 2 01/2013
1	Microcephaly 02/2012
1	Mandibulofacial Dysostosis (Treacher Collins Syndrome) 02/2012
1	Type B1 Brachydactyly 01/2012
1	Myositis Ossificans (Fibrodysplasia Ossificans Progressiva) 01/2012
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2012
1	Larsen-Like Syndrome 07/2011
1	Joint Dislocations 07/2011
1	Brain Diseases (Brain Disorder) 07/2011
1	Drug Resistant Epilepsy 07/2011
1	Marfan Syndrome (Marfan's Syndrome) 04/2011
1	Osteopoikilosis 07/2010
1	Lubs X-linked mental retardation syndrome 02/2010
1	Multiple Sulfatase Deficiency Disease (Mucosulfatidosis) 08/2009
1	Mason-Type Diabetes 07/2009
1	Rett Syndrome (Rett's Disorder) 07/2009

Drug/Important Bio-Agent (IBA)

7	Proteins (Proteins, Gene)FDA Link 01/2018 - 10/2007
6	Amino Acids FDA Link 01/2018 - 07/2010
5	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 12/2021 - 07/2012
5	Alkaline PhosphataseIBA 01/2018 - 03/2010
3	EnzymesIBA 07/2019 - 01/2016
2	LigandsIBA 01/2019 - 09/2017
2	Ion Channels (Ion Channel)IBA 09/2018 - 01/2017
2	AutoantibodiesIBA 07/2009 - 11/2008
2	Small Nucleolar RNA (snoRNA)IBA 02/2005 - 05/2004
1	ConnectinIBA 10/2022
1	Interferon Receptors (Interferon Receptor)IBA 01/2022
1	Protein SIBA 12/2021
1	ChromatinIBA 01/2021
1	MAP-kinase-activated kinase 5IBA 01/2021
1	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 11/2020
1	Transaminases (Aminotransferases)IBA 11/2020
1	COOH-terminal signal transamidaseIBA 01/2019
1	Notch ReceptorsIBA 01/2019
1	Microfilament Proteins (Actin Binding Proteins)IBA 10/2018
1	Codon (Codons)IBA 01/2018
1	Nonsense Codon (Nonsense Mutation)IBA 05/2017
1	Protein Kinases (Protein Kinase)IBA 02/2016
1	Monomeric GTP-Binding ProteinsIBA 02/2015
1	Phosphates (Orthophosphate)IBA 06/2014
1	GPI-Linked ProteinsIBA 02/2014
1	Histone Deacetylases (Histone Deacetylase)IBA 07/2013
1	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 01/2013
1	GABA-A Receptors (GABA(A) Receptor)IBA 01/2013
1	ProstaglandinsIBA 04/2012
1	GTP Phosphohydrolases (GTPases)IBA 02/2012
1	Bone Morphogenetic Proteins (Bone Morphogenetic Protein)IBA 01/2012
1	Golgi Matrix ProteinsIBA 10/2011
1	Proteoglycans (Proteoglycan)IBA 07/2011
1	Retinaldehyde (Retinal)IBA 07/2011
1	Complementary DNA (cDNA)IBA 07/2010
1	Botulinum Toxins (Botulinum Toxin)IBA 02/2010
1	Type A Botulinum Toxins (Botox)FDA Link 02/2010
1	15-hydroxyprostaglandin dehydrogenaseIBA 12/2009
1	AcidsIBA 08/2009
1	GlycosaminoglycansIBA 08/2009
1	LipidsIBA 08/2009
1	Carrier Proteins (Binding Protein)IBA 07/2009
1	C-PeptideIBA 07/2009

Therapy/Procedure

1	Drug Therapy (Chemotherapy) 06/2021
1	Speech Therapy (Therapy, Speech) 05/2017