Vincent Cantagrel Selected Research

Zunich neuroectodermal syndrome

4/2012

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

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Vincent Cantagrel Research Topics

Disease

3	Pontocerebellar Hypoplasia 01/2023 - 11/2020
2	Atrophy 01/2018 - 05/2015
2	Congenital Disorders of Glycosylation 11/2010 - 07/2010
1	Congenital Hyperinsulinism 10/2023
1	Trisomy (Trisomies) 10/2023
1	Fetal Growth Retardation (Intrauterine Growth Retardation) 10/2023
1	Diabetes Mellitus 10/2023
1	Uniparental Disomy 10/2023
1	Macroglossia 10/2023
1	Brain Diseases (Brain Disorder) 01/2023
1	Kabuki syndrome 10/2022
1	Microcephaly 01/2020
1	Megalencephaly 01/2020
1	Sensorineural Hearing Loss 01/2018
1	Congenital Heart Defects (Congenital Heart Defect) 01/2018
1	CHARGE Syndrome 01/2018
1	Neurodevelopmental Disorders 01/2018
1	Molybdenum cofactor deficiency 01/2016
1	Intellectual Disability (Idiocy) 05/2015
1	Agenesis of Cerebellar Vermis 05/2015
1	Ataxia (Dyssynergia) 05/2015
1	Ciliopathies 05/2015
1	Obesity 05/2015
1	Zunich neuroectodermal syndrome 04/2012
1	Metabolic Diseases (Metabolic Disease) 08/2011
1	Joint Dislocations 07/2011
1	Larsen-Like Syndrome 07/2011
1	Cataract (Cataracts) 11/2010
1	Glaucoma 11/2010
1	Cerebellar Ataxia (Dysmetria) 11/2010
1	Vision Disorders (Hemeralopia) 11/2010
1	Coloboma (Colobomas) 11/2010
1	Optic Nerve Hypoplasia 11/2010

Drug/Important Bio-Agent (IBA)

2	Proteins (Proteins, Gene)FDA Link 01/2023 - 07/2010
2	Retinaldehyde (Retinal)IBA 05/2015 - 11/2010
2	DolicholsIBA 08/2011 - 11/2010
1	Genetic Markers (Genetic Marker)IBA 10/2023
1	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 01/2023
1	Histones (Histone)IBA 10/2022
1	Inositol PhosphatesIBA 06/2021
1	Phytic Acid (Inositol Hexaphosphate)IBA 11/2020
1	Chelating AgentsIBA 11/2020
1	SpectrinIBA 01/2020
1	atrophin-1IBA 01/2018
1	Amino Acids FDA Link 01/2018
1	Arginine (L-Arginine)FDA Link 01/2018
1	DipeptidesIBA 01/2018
1	Calcium Channels (Calcium Channel)IBA 01/2018
1	Glutamic Acid (Glutamate)FDA Link 01/2018
1	Initiator Codon (Start Codon)IBA 01/2016
1	GTP Phosphohydrolases (GTPases)IBA 05/2015
1	Sorting NexinsIBA 05/2015
1	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 04/2012
1	Proteoglycans (Proteoglycan)IBA 07/2011
1	SteroidsIBA 11/2010