Gilles Morin Selected Research

Miller-McKusick-Malvaux-Syndrome (3M Syndrome)

10/2005

Identification of mutations in CUL7 in 3-M syndrome.

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Gilles Morin Research Topics

Disease

3	Schmid-Fraccaro syndrome 11/2023 - 01/2015
3	Inborn Genetic Diseases (Disease, Hereditary) 11/2023 - 10/2015
3	Tetrasomy 11/2023 - 01/2015
2	Cardiomyopathies (Cardiomyopathy) 12/2023 - 12/2017
2	Neoplasms (Cancer) 01/2018 - 10/2015
2	Deafness (Deaf Mutism) 03/2015 - 05/2006
1	Short Qt Syndrome 12/2023
1	Cardiac Arrhythmias (Arrythmia) 12/2023
1	Persistent Mullerian duct syndrome 11/2022
1	Kleefstra Syndrome 12/2021
1	Noonan Syndrome (Female Pseudo-Turner Syndrome) 01/2020
1	Lentigo (Lentiginosis) 01/2020
1	Neurodevelopmental Disorders 01/2020
1	Hyperferritinemia 01/2019
1	hereditary Xerocytosis 01/2019
1	Channelopathies 01/2019
1	Hemolysis 01/2019
1	Thrombosis (Thrombus) 01/2019
1	Iron Overload 01/2019
1	Edema (Dropsy) 01/2019
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 12/2018
1	Neoplasm Metastasis (Metastasis) 01/2018
1	Ascites 12/2017
1	Portal Hypertension 12/2017
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 12/2017
1	Nephrotic Syndrome (Syndrome, Nephrotic) 12/2017
1	Pericarditis 12/2017
1	Protein-Losing Enteropathies (Protein-Losing Enteropathy) 12/2017
1	Hydrops Fetalis (Fetal Edema) 12/2017
1	Liver Failure 12/2017
1	Disease Progression 12/2017
1	Hypoalbuminemia 12/2017
1	Chromosome Aberrations (Chromosome Abnormalities) 10/2015
1	Dent Disease 2 08/2015
1	Dent disease 1 08/2015
1	Coloboma (Colobomas) 03/2015
1	Hypertelorism 03/2015
1	Cerebrofrontofacial Syndrome 03/2015
1	Trisomy (Trisomies) 01/2015
1	Hereditary Nonpolyposis Colorectal Neoplasms (Hereditary Nonpolyposis Colorectal Cancer) 01/2012
1	Brachydactyly type A2 12/2006
1	Brachydactyly type C 12/2006
1	Renal Tubular Acidosis (Distal Renal Tubular Acidosis) 05/2006
1	Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 10/2005

Drug/Important Bio-Agent (IBA)

3	Genetic Markers (Genetic Marker)IBA 11/2023 - 01/2015
1	Carnitine (L-Carnitine)FDA LinkGeneric 12/2023
1	Systemic carnitine deficiencyIBA 12/2023
1	Myosin-Light-Chain PhosphataseIBA 11/2022
1	Histone MethyltransferasesIBA 12/2021
1	Proteins (Proteins, Gene)FDA Link 01/2020
1	Mitogen-Activated Protein KinasesIBA 01/2020
1	IronIBA 01/2019
1	3-methylglutaconic acidIBA 12/2018
1	Phospholipids (Phosphatides)FDA LinkGeneric 12/2018
1	creatine transporterIBA 01/2018
1	phosphomannomutaseIBA 12/2017
1	Transaminases (Aminotransferases)IBA 12/2017
1	Congenital disorder of glycosylation type 1AIBA 12/2017
1	Growth Hormone (Somatotropin)IBA 10/2015
1	Ion Channels (Ion Channel)IBA 10/2015
1	Biomarkers (Surrogate Marker)IBA 10/2015
1	Protons (Proton)IBA 08/2015
1	ChloridesIBA 08/2015
1	Inositol Polyphosphate 5-PhosphatasesIBA 08/2015
1	Retinaldehyde (Retinal)IBA 03/2015
1	Actins (F Actin)IBA 03/2015
1	hydrogen sulfite (bisulfite)IBA 01/2012
1	Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA 12/2006
1	LigandsIBA 12/2006
1	Proton-Translocating ATPases (ATPase, H+)IBA 05/2006
1	dirhodium tetraacetate (DRTA)IBA 05/2006
1	Cullin Proteins (Cullins)IBA 10/2005

Therapy/Procedure

1	Splenectomy 01/2019
1	Nutritional Support (Artificial Feeding) 12/2017
1	Sutures (Suture) 03/2015