Jean-Pierre Desvignes Selected Research

syndromic 5 X-linked Mental retardation

3/2014

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).

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Jean-Pierre Desvignes Research Topics

Disease

1	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 02/2021
1	Disease Progression 02/2021
1	Vaccinia 01/2019
1	Noonan Syndrome (Female Pseudo-Turner Syndrome) 01/2018
1	Asthenozoospermia 01/2018
1	Infertility (Sterility) 01/2018
1	Lymphoma (Lymphomas) 10/2017
1	Visceral Leishmaniasis (Kala Azar) 01/2017
1	Breast Neoplasms (Breast Cancer) 01/2017
1	Marfan Syndrome (Marfan's Syndrome) 12/2016
1	Inborn Genetic Diseases (Disease, Hereditary) 03/2016
1	Neuromuscular Diseases (Neuromuscular Disease) 12/2015
1	Cerebellar Ataxia (Dysmetria) 06/2015
1	Friedreich Ataxia (Friedreich's Ataxia) 06/2015
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 12/2014
1	Distal Myopathies (Distal Muscular Dystrophy) 12/2014
1	syndromic 5 X-linked Mental retardation 03/2014
1	Colorectal Neoplasms (Colorectal Cancer) 02/2012
1	Neoplasms (Cancer) 02/2012
1	Carcinogenesis 02/2012

Drug/Important Bio-Agent (IBA)

3	Proteins (Proteins, Gene)FDA Link 01/2018 - 03/2014
1	Biomarkers (Surrogate Marker)IBA 02/2021
1	Phosphotransferases (Kinase)IBA 01/2019
1	Mitogen-Activated Protein KinasesIBA 01/2018
1	Calmodulin (Calcium-Dependent Activator Protein)IBA 01/2018
1	Dyneins (Dynein)IBA 01/2018
1	Co-Repressor ProteinsIBA 10/2017
1	Mixed Function Oxygenases (Monooxygenases)IBA 01/2017
1	Capecitabine (Xeloda)FDA Link 01/2017
1	Transforming Growth Factor-beta Type I ReceptorIBA 12/2016
1	Protons (Proton)IBA 03/2016
1	DNA (Deoxyribonucleic Acid)IBA 12/2015
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 06/2015
1	FrataxinIBA 06/2015
1	DysferlinIBA 12/2014
1	Amino Acids FDA Link 03/2014
1	Vesicular Transport Adaptor ProteinsIBA 03/2014
1	Small Interfering RNA (siRNA)IBA 02/2012
1	ArrestinsIBA 02/2012
1	CateninsIBA 02/2012