Koen Devriendt Selected Research

Branchiootic Syndrome 2

11/2009

Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1.

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Koen Devriendt Research Topics

Disease

5	DiGeorge Syndrome (Syndrome, DiGeorge) 09/2023 - 02/2003
4	Intellectual Disability (Idiocy) 11/2019 - 05/2007
3	Congenital Heart Defects (Congenital Heart Defect) 09/2023 - 08/2013
3	Aneuploidy (Aneuploid) 09/2021 - 01/2017
3	Autism Spectrum Disorder 01/2020 - 03/2013
2	Congenital Abnormalities (Deformity) 01/2020 - 02/2003
2	Pseudohypoparathyroidism 01/2012 - 12/2010
1	Hypercalcemia (Milk Alkali Syndrome) 05/2024
1	Hypercalciuria 05/2024
1	Infantile Hypercalcemia 05/2024
1	Inborn Genetic Diseases (Disease, Hereditary) 05/2024
1	Nephrocalcinosis 05/2024
1	Maternal Obesity 01/2023
1	Pre-Eclampsia (Preeclampsia) 01/2023
1	Neoplasms (Cancer) 09/2021
1	Premature Obstetric Labor (Premature Labor) 09/2021
1	Autosomal Dominant Polycystic Kidney (ADPKD) 06/2021
1	Clubfoot (Talipes Equinovarus) 01/2021
1	Atrial Heart Septal Defects (Atrial Septal Defect) 01/2021
1	Pierre Robin Syndrome (Syndrome, Pierre Robin) 01/2021
1	Ectodermal Dysplasia (Aplasia Cutis Congenita) 01/2020
1	Hypogonadism (Hypergonadotropic Hypogonadism) 01/2019
1	Microcephaly 01/2019
1	Tetralogy of Fallot (Fallot Tetralogy) 02/2016
1	Atrioventricular Septal Defect 02/2016
1	Autosomal Recessive Type VII Ehlers-Danlos Syndrome 01/2016
1	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 01/2016
1	Down Syndrome (Down's Syndrome) 10/2015
1	Cakut 05/2015
1	Coloboma (Colobomas) 03/2015
1	Hypertelorism 03/2015
1	Cerebrofrontofacial Syndrome 03/2015
1	Deafness (Deaf Mutism) 03/2015
1	Autistic Disorder (Autism) 12/2014
1	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 07/2014
1	Genetic Translocation (Chromosomal Translocation) 01/2014
1	Lymphedema (Milroy Disease) 03/2012
1	Pseudopseudohypoparathyroidism 01/2012
1	Progressive Osseous Heteroplasia 01/2012
1	Marfan Syndrome (Marfan's Syndrome) 07/2011
1	Arachnodactyly 07/2011
1	Hyperphosphatemia 12/2010
1	Hypocalcemia 12/2010
1	Fetofetal Transfusion (Twin Transfusion Syndrome) 02/2010
1	Branchiootic Syndrome 2 11/2009
1	3 Early Infantile Epileptic Encephalopathy 03/2009
1	Leukemia 03/2009
1	Costello Syndrome 02/2008
1	Hirschsprung Disease (Hirschsprung's Disease) 05/2007
1	Hyperventilation 05/2007
1	Pitt-Hopkins syndrome 05/2007
1	Kallmann Syndrome (Kallmann's Syndrome) 01/2007
1	Rett Syndrome (Rett's Disorder) 06/2006

Drug/Important Bio-Agent (IBA)

4	DNA (Deoxyribonucleic Acid)IBA 09/2023 - 10/2015
3	Parathyroid Hormone (Parathormone)IBA 05/2024 - 12/2010
3	Cell-Free Nucleic AcidsIBA 01/2023 - 01/2017
3	Transcription Factors (Transcription Factor)IBA 01/2020 - 11/2011
2	dichlorobis(azomycin)platinum IIIBA 01/2023 - 09/2021
2	Retinaldehyde (Retinal)IBA 03/2015 - 01/2005
2	Proteins (Proteins, Gene)FDA Link 03/2013 - 11/2009
2	Protein Isoforms (Isoforms)IBA 01/2007 - 02/2003
1	Vitamin D FDA LinkGeneric 05/2024
1	Phosphates (Orthophosphate)IBA 05/2024
1	Epidermal Growth Factor (EGF)IBA 06/2021
1	CreatinineIBA 06/2021
1	TARPIBA 01/2021
1	EctodysplasinsIBA 01/2020
1	MetalsIBA 01/2020
1	CateninsIBA 01/2020
1	VitaminsIBA 01/2020
1	CobaltIBA 01/2020
1	CopperIBA 01/2020
1	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 11/2019
1	DNA Primase (Primase)IBA 01/2019
1	DNA-Directed DNA Polymerase (Polymerases, DNA)IBA 01/2019
1	P-2 (P 2)IBA 02/2016
1	ProcollagenIBA 01/2016
1	EnzymesIBA 01/2016
1	Facilitative Glucose Transport Proteins (Glucose Transporter)IBA 05/2015
1	Hepatocyte Nuclear Factor 1-betaIBA 05/2015
1	Actins (F Actin)IBA 03/2015
1	Fragile X Mental Retardation ProteinIBA 12/2014
1	osteoblast cadherinIBA 07/2014
1	RNA Splice SitesIBA 01/2014
1	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 08/2013
1	Neurotransmitter Agents (Neurotransmitter)IBA 03/2013
1	Hormones (Hormone)IBA 01/2012
1	5-phenylpent-4-enyl-1-hydroperoxideIBA 01/2012
1	Fibrillin-1IBA 07/2011
1	Receptor Protein-Tyrosine Kinases (Tyrosine Kinase Receptors)IBA 03/2009
1	Neuregulin-1 (Neuregulin 1)IBA 03/2009
1	Guanosine Triphosphate (GTP)IBA 02/2008
1	Codon (Codons)IBA 02/2008
1	Transcription Factor 4IBA 05/2007
1	4- ethoxymethylene- 2- phenyl- 2- oxazoline- 5- one (phOx)IBA 05/2007
1	Methyl-CpG-Binding Protein 2IBA 06/2006

Therapy/Procedure

1	Drug Therapy (Chemotherapy) 09/2021
1	Sutures (Suture) 03/2015
1	Laser Therapy (Surgery, Laser) 02/2010
1	Therapeutics 02/2010