Koenraad Devriendt Selected Research

Partington X-linked mental retardation syndrome

1/2018

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.

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Koenraad Devriendt Research Topics

Disease

3	Down Syndrome (Down's Syndrome) 01/2021 - 01/2018
3	Intellectual Disability (Idiocy) 10/2019 - 07/2012
2	Thalassemia 08/2022 - 01/2018
2	Sickle Cell Anemia (Hemoglobin S Disease) 08/2022 - 05/2022
2	Trisomy (Trisomies) 01/2021 - 12/2010
2	Neurodevelopmental Disorders 01/2021 - 01/2016
2	Sotos Syndrome 12/2020 - 07/2014
2	Genetic Translocation (Chromosomal Translocation) 01/2015 - 05/2007
1	Anemia 08/2022
1	Malaria 05/2022
1	Neoplasms (Cancer) 05/2021
1	Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl) 01/2021
1	Aneuploidy (Aneuploid) 01/2021
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 12/2020
1	Van der Woude syndrome 01/2020
1	Congenital Abnormalities (Deformity) 11/2019
1	Cleft Lip (Harelip) 07/2018
1	Osteonecrosis (Kienbock's Disease) 01/2018
1	Amniotic Band Sequence 01/2018
1	Partington X-linked mental retardation syndrome 01/2018
1	Pitt-Hopkins syndrome 01/2018
1	Cholelithiasis 01/2018
1	Leg Ulcer 01/2018
1	Microcephaly 01/2018
1	Cardiomyopathies (Cardiomyopathy) 12/2017
1	Cardiac Arrhythmias (Arrythmia) 12/2017
1	Autosomal Dominant Polycystic Kidney (ADPKD) 01/2017
1	Agenesis of Corpus Callosum 01/2017
1	Epilepsy (Aura) 01/2017
1	Kabuki syndrome 12/2016
1	Gastroesophageal Reflux (GERD) 03/2016
1	Failure to Thrive 03/2016
1	CHARGE Syndrome 01/2016
1	Amenorrhea 01/2016
1	Holoprosencephaly (Arhinencephaly) 10/2015
1	Abdominal Aortic Aneurysm 04/2015
1	Aortic Aneurysm (Aneurysm, Aortic) 04/2015
1	Thoracic Aortic Aneurysm 04/2015
1	Autism Spectrum Disorder 01/2015
1	Infantile Hypercalcemia 07/2014
1	Hypercalcemia (Milk Alkali Syndrome) 07/2014
1	Congenital Diaphragmatic Hernias 05/2014
1	Acrocephalosyndactylia (Apert Syndrome) 03/2014
1	Jeune syndrome 05/2013
1	Polydactyly (Polydactylism) 05/2013
1	Pulmonary Emphysema 08/2012
1	Kleefstra Syndrome 07/2012
1	Hydrocephalus (Hydrocephaly) 05/2012
1	Walker-Warburg Syndrome 05/2012
1	Muscular Dystrophies (Muscular Dystrophy) 05/2012
1	Tetralogy of Fallot (Fallot Tetralogy) 04/2012
1	Congenital Heart Defects (Congenital Heart Defect) 03/2012
1	Diaphragmatic Hernia 12/2010

Drug/Important Bio-Agent (IBA)

5	Proteins (Proteins, Gene)FDA Link 12/2020 - 06/2003
3	DNA (Deoxyribonucleic Acid)IBA 08/2022 - 06/2003
2	dichlorobis(azomycin)platinum IIIBA 05/2021 - 01/2021
2	Nonsense Codon (Nonsense Mutation)IBA 05/2014 - 06/2003
2	Transcription Factors (Transcription Factor)IBA 05/2007 - 06/2003
1	Fetal Hemoglobin (Hemoglobin F)IBA 05/2022
1	Cell-Free Nucleic AcidsIBA 05/2021
1	Retroelements (Retrotransposon)IBA 01/2021
1	Protein Phosphatase 2 (Protein Phosphatase 2A)IBA 01/2021
1	N-(4-isothiocyanatophenethyl)spiperoneIBA 01/2021
1	CalciumIBA 12/2020
1	A-Form DNA (A-DNA)IBA 12/2020
1	ConnectinIBA 12/2020
1	InterferonsIBA 01/2020
1	CopperIBA 11/2019
1	CobaltIBA 11/2019
1	RNA Polymerase II (RNA Polymerase B)IBA 10/2019
1	Heavy MetalsIBA 07/2018
1	InsecticidesIBA 07/2018
1	ClayIBA 07/2018
1	Charcoal (Charbon)IBA 07/2018
1	Aripiprazole (Abilify)FDA Link 01/2018
1	Risperidone (Risperdal Consta)FDA LinkGeneric 01/2018
1	aminoacylase I (aminoacylase)IBA 01/2018
1	Cytidine Monophosphate (CMP)IBA 12/2017
1	Prostaglandins DIBA 01/2017
1	Hormones (Hormone)IBA 12/2016
1	GonadotropinsIBA 01/2016
1	LigandsIBA 04/2015
1	Transforming Growth Factors (Transforming Growth Factor)IBA 04/2015
1	Transforming Growth Factor beta3 (TGF beta 3)IBA 04/2015
1	Biomarkers (Surrogate Marker)IBA 01/2015
1	Serotonin (5 Hydroxytryptamine)IBA 01/2015
1	MineralsIBA 07/2014
1	Type 4 Fibroblast Growth Factor ReceptorIBA 07/2014
1	Fibroblast Growth Factors (Fibroblast Growth Factor)IBA 07/2014
1	NucleotidesIBA 03/2014
1	Retinaldehyde (Retinal)IBA 05/2013
1	ElastinIBA 08/2012
1	ChromatinIBA 07/2012
1	Dystroglycans (Dystroglycan)IBA 05/2012
1	Biological ProductsIBA 03/2012

Therapy/Procedure

3	Ligation 01/2018 - 04/2012
1	Genomic Medicine 01/2021
1	Blood Transfusion (Blood Transfusions) 01/2018
1	Gastrostomy 03/2016
1	Estrogen Replacement Therapy 01/2016