Lionel Van Maldergem Selected Research

Deafness (Deaf Mutism)

12/2016

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.

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Lionel Van Maldergem Research Topics

Disease

3	Intellectual Disability (Idiocy) 01/2019 - 11/2010
3	Brain Diseases (Brain Disorder) 01/2018 - 12/2002
3	recessive Cutis laxa 11/2013 - 01/2008
2	Muscle Hypotonia (Hypotonia) 11/2021 - 11/2013
2	Growth Disorders 01/2019 - 04/2014
2	Short Rib-Polydactyly Syndrome 01/2018 - 01/2014
2	Ataxia (Dyssynergia) 06/2017 - 07/2016
2	Cutis Laxa 01/2008 - 09/2002
1	Hematologic Diseases (Blood Diseases) 01/2022
1	Palmoplantar Keratoderma (Keratosis Palmaris et Plantaris) 01/2022
1	Holoprosencephaly (Arhinencephaly) 11/2021
1	Isolated Microphthalmia with Coloboma 5 11/2021
1	Exostoses 11/2021
1	Neurodevelopmental Disorders 01/2020
1	Anorchia 01/2020
1	46,XY Gonadal Dysgenesis (Swyer Syndrome) 01/2020
1	Muscular Diseases (Myopathy) 10/2019
1	Kabuki syndrome 01/2019
1	Alopecia (Baldness) 01/2019
1	Neoplasms (Cancer) 01/2019
1	Cataract (Cataracts) 01/2019
1	Sotos Syndrome 01/2019
1	Congenital Heart Defects (Congenital Heart Defect) 10/2018
1	Zellweger Syndrome (Zellweger's Syndrome) 01/2018
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 06/2017
1	Cerebellar Ataxia (Dysmetria) 06/2017
1	Channelopathies 06/2017
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2017
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2017
1	Cytochrome-c Oxidase Deficiency 01/2017
1	Deafness (Deaf Mutism) 12/2016
1	Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 04/2015
1	Acute Myeloid Leukemia (Acute Myelogenous Leukemia) 04/2014
1	Hematologic Neoplasms (Hematological Malignancy) 04/2014
1	Autism Spectrum Disorder 01/2014
1	Weaver syndrome 12/2013
1	Type IIB Autosomal Recessive Cutis Laxa 11/2013
1	Fetal Growth Retardation (Intrauterine Growth Retardation) 11/2013
1	Crohn Disease (Crohn's Disease) 03/2013
1	Hyperemesis Gravidarum 03/2013
1	Chondrodysplasia Punctata (Stippled Epiphyses) 03/2013
1	Fetal Diseases (Embryopathy) 03/2013
1	Ototoxicity 01/2013
1	Meningitis 01/2013
1	Osteogenesis Imperfecta (Lobstein Disease) 03/2011
1	Inborn Genetic Diseases (Disease, Hereditary) 03/2011
1	Contracture 03/2011
1	Epilepsy (Aura) 11/2010
1	Tomaculous neuropathy 06/2010
1	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 06/2010
1	Nervous System Diseases (Neurological Disorders) 01/2010
1	Oculodentodigital Dysplasia 05/2009
1	Wrinkly skin syndrome 01/2008
1	Congenital disorder of glycosylation type II 01/2008
1	Nance-Horan syndrome 01/2008
1	Nonsyndromic Deafness 12/2005

Drug/Important Bio-Agent (IBA)

6	Proteins (Proteins, Gene)FDA Link 04/2015 - 09/2002
3	DNA (Deoxyribonucleic Acid)IBA 01/2019 - 04/2014
2	DNA Methyltransferase 3AIBA 01/2022 - 01/2019
2	EnzymesIBA 01/2020 - 01/2018
2	Histone MethyltransferasesIBA 01/2019 - 12/2013
2	Mitochondrial DNA (mtDNA)IBA 10/2018 - 01/2017
2	AcidsIBA 01/2014 - 08/2003
2	Proline (L-Proline)FDA Link 11/2013 - 09/2002
2	Proton-Translocating ATPases (ATPase, H+)IBA 06/2009 - 01/2008
1	CeramidesIBA 01/2022
1	9 alpha,11 alpha,15 alpha- trihydroxy- 16- phenoxy- 17,18,19,20- tetranorprosta- 4,5,13- trienoic acid (TPT)IBA 11/2021
1	SCO-spondinIBA 11/2021
1	RNA Helicases (RNA Helicase)IBA 01/2020
1	FilaminsIBA 10/2019
1	lanosterol synthaseIBA 01/2019
1	CholesterolIBA 01/2019
1	AMPA Receptors (AMPA Receptor)IBA 01/2018
1	Phospholipids (Phosphatides)FDA LinkGeneric 01/2018
1	tributyl phosphate (TBP)IBA 06/2017
1	polyglutamineIBA 06/2017
1	N-ethylcarbaminomethyl-L-isoleucine (A 145)IBA 07/2016
1	Histones (Histone)IBA 04/2014
1	A-Form DNA (A-DNA)IBA 04/2014
1	MethyltransferasesIBA 04/2014
1	CDPdiacylglycerol-Serine O-PhosphatidyltransferaseIBA 01/2014
1	Serotonin (5 Hydroxytryptamine)IBA 01/2014
1	delta-1-pyrroline-5-carboxylateIBA 11/2013
1	Oxidoreductases (Dehydrogenase)IBA 11/2013
1	Cytidine Diphosphate (CDP)IBA 03/2013
1	Vitamin K FDA Link 03/2013
1	AminoglycosidesIBA 01/2013
1	Collagen Type I (Type I Collagen)IBA 03/2011
1	2-Oxoglutarate 5-Dioxygenase Procollagen-Lysine (Lysyl Hydroxylase)IBA 03/2011
1	Nonsense Codon (Nonsense Mutation)IBA 11/2010
1	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 11/2010
1	Myelin ProteinsIBA 06/2010
1	TubulinIBA 01/2010
1	disodium salt olean-11,13(18)-diene-3,30-diol dihemiphthalateIBA 05/2009
1	Connexin 43 (Connexin43)IBA 05/2009
1	Protein Isoforms (Isoforms)IBA 01/2008
1	Blood Proteins (Serum Proteins)IBA 01/2008
1	Connexin 26IBA 12/2005

Therapy/Procedure

2	Liver Transplantation 01/2018 - 08/2003
1	Cochlear Implantation 01/2013