François Petit Selected Research

chromosome 14 paternal Uniparental disomy

3/2022

First prenatal case of Kagami-Ogata syndrome associated with a small supernumerary marker chromosome derived from chromosome 15.

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François Petit Research Topics

Disease

3	Muscular Diseases (Myopathy) 01/2020 - 01/2018
2	Glycogen Storage Disease (Glycogenosis) 01/2020 - 05/2006
2	Myalgia 01/2020 - 01/2020
2	Vacuolar myopathy 10/2019 - 06/2018
2	Glycogen Storage Disease Type III (Cori's Disease) 05/2015 - 12/2011
2	Hypoglycemia (Reactive Hypoglycemia) 12/2011 - 05/2011
2	Hepatomegaly 12/2011 - 05/2011
2	Neutropenia 05/2011 - 05/2006
1	chromosome 14 paternal Uniparental disomy 03/2022
1	Hyperbilirubinemia 01/2020
1	Precocious Puberty 08/2018
1	Cardiac Arrhythmias (Arrythmia) 08/2018
1	Overweight 08/2018
1	Epilepsy (Aura) 08/2018
1	Fibrosis (Cirrhosis) 06/2018
1	Muscle Weakness 01/2018
1	Congenital Disorders of Glycosylation 02/2014
1	Cardiomyopathies (Cardiomyopathy) 12/2011
1	Glycogen Storage Disease Type I 05/2011
1	Acidosis 05/2011
1	Renal Insufficiency (Renal Failure) 05/2011
1	Metabolic Diseases (Metabolic Disease) 05/2011
1	Infertility (Sterility) 01/2008

Drug/Important Bio-Agent (IBA)

2	AMP Deaminase (Myoadenylate Deaminase)IBA 01/2020 - 01/2020
2	EnzymesIBA 10/2019 - 12/2011
2	GlycogenIBA 06/2018 - 05/2011
1	Genetic Markers (Genetic Marker)IBA 03/2022
1	Oxygen (Dioxygen)IBA 01/2020
1	prednylidene (Pred)IBA 01/2020
1	antineoplaston A10 (A 10)IBA 08/2018
1	polyglucosanIBA 01/2018
1	glycogeninIBA 01/2018
1	Glycogen Debranching Enzyme System (Glycogen Debranching Enzyme)IBA 05/2015
1	Glycoproteins (Glycoprotein)IBA 02/2014
1	Ketone BodiesIBA 12/2011
1	LipidsIBA 12/2011
1	CarbohydratesIBA 12/2011
1	Glucose (Dextrose)FDA LinkGeneric 12/2011
1	Galactose (Galactopyranose)FDA LinkGeneric 05/2011
1	Starch (Cornstarch)IBA 05/2011
1	FructoseIBA 05/2011
1	Zona Pellucida GlycoproteinsIBA 01/2008
1	Glucose-6-PhosphateIBA 05/2006

Therapy/Procedure

2	Liver Transplantation 06/2018 - 05/2011
1	Cell Transplantation 01/2020
1	High-Protein Diet 12/2011
1	Ketogenic Diet 12/2011
1	Enteral Nutrition (Feeding, Tube) 05/2011
1	Kidney Transplantation 05/2011