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Maurizio Ferrari Selected Research

hereditary Hyperferritinemia with congenital cataracts

10/2010High resolution melting for the identification of mutations in the iron responsive element of the ferritin light chain gene.
2/2006Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism.
10/2003Identification of two novel mutations in the 5'-untranslated region of H-ferritin using denaturing high performance liquid chromatography scanning.

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Maurizio Ferrari Research Topics

Disease

9beta-Thalassemia (Cooley's Anemia)
06/2012 - 12/2002
6Pre-Eclampsia (Preeclampsia)
11/2021 - 09/2006
4COVID-19
12/2020 - 01/2020
4Neoplasms (Cancer)
02/2019 - 07/2009
4Iron Overload
10/2008 - 11/2002
3Neuroferritinopathy
11/2019 - 01/2007
3Movement Disorders (Movement Disorder)
11/2019 - 10/2010
3Brugada Syndrome
10/2019 - 12/2009
3Inborn Genetic Diseases (Disease, Hereditary)
06/2012 - 07/2003
3Macular Degeneration (Age-Related Maculopathy)
01/2012 - 08/2004
3Parkinson Disease (Parkinson's Disease)
12/2010 - 01/2007
3Cataract (Cataracts)
10/2010 - 11/2002
3hereditary Hyperferritinemia with congenital cataracts
10/2010 - 10/2003
2Ventricular Fibrillation
12/2020 - 12/2009
2Ventricular Tachycardia
12/2020 - 12/2009
2Cardiac Arrhythmias (Arrythmia)
01/2020 - 10/2019
2Colorectal Neoplasms (Colorectal Cancer)
01/2019 - 01/2013
2Respiratory Distress Syndrome (Acute Respiratory Distress Syndrome)
01/2018 - 10/2012
2Migraine Disorders (Migraine)
10/2017 - 11/2013
2Pantothenate Kinase-Associated Neurodegeneration (Hallervorden-Spatz Disease)
10/2016 - 12/2010
2Acute Myeloid Leukemia (Acute Myelogenous Leukemia)
04/2016 - 07/2009
2Hypoxia (Hypoxemia)
08/2015 - 09/2006
2Genetic Predisposition to Disease (Genetic Predisposition)
09/2014 - 10/2012
2Myelodysplastic Syndromes (Myelodysplastic Syndrome)
12/2010 - 07/2009
2Restless Legs Syndrome (Restless Legs)
12/2010 - 10/2010
2Hyperferritinemia
10/2010 - 10/2003
2Fetal Growth Retardation (Intrauterine Growth Retardation)
06/2010 - 09/2006
2Stargardt Disease
01/2008 - 01/2006
1Mason-Type Diabetes
01/2021
1Type 2 Diabetes Mellitus (MODY)
01/2021
1Schinzel-Giedion syndrome
01/2021
1Cardiomyopathies (Cardiomyopathy)
12/2020
1Airway Obstruction (Choking)
06/2020
1Ataxia (Dyssynergia)
01/2020
1Muscle Hypotonia (Hypotonia)
01/2020
1Jaundice (Icterus)
12/2019
1Sudden Death
10/2019
1Malocclusion (Crossbite)
05/2019
1Neurofibromatoses (Neurofibromatosis)
01/2019
1Type 1 Diabetes Mellitus (Autoimmune Diabetes)
03/2018
1Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease)
10/2017
1Vomiting
10/2017
1Febrile Seizures (Febrile Seizure)
10/2017
1Neurodegenerative Diseases (Neurodegenerative Disease)
10/2016
1Mitochondrial Diseases (Mitochondrial Disease)
10/2016
1Intellectual Disability (Idiocy)
01/2016
1Inflammation (Inflammations)
08/2015
1Diabetes Complications
08/2015
1Muscular Dystrophies (Muscular Dystrophy)
02/2015
1Spastic Paraparesis
02/2015

Drug/Important Bio-Agent (IBA)

15DNA (Deoxyribonucleic Acid)IBA
02/2019 - 12/2002
10Proteins (Proteins, Gene)FDA Link
11/2021 - 02/2006
8IronIBA
11/2019 - 04/2003
6ApoferritinsIBA
11/2019 - 11/2002
5Messenger RNA (mRNA)IBA
01/2016 - 04/2003
4Cell-Free Nucleic AcidsIBA
09/2015 - 01/2009
4NucleotidesIBA
05/2014 - 07/2003
4ATP-Binding Cassette Transporters (ABC Transporters)IBA
01/2012 - 08/2004
4Ferritins (Ferritin)IBA
10/2010 - 04/2003
3Surface-Active Agents (Surfactants)IBA
01/2018 - 01/2012
3Biomarkers (Surrogate Marker)IBA
09/2015 - 08/2014
3beta-Globins (beta Globin)IBA
03/2010 - 09/2006
3metal transporting protein 1 (ferroportin)IBA
10/2008 - 11/2002
2Nonsense Codon (Nonsense Mutation)IBA
10/2019 - 01/2019
2HepcidinsIBA
10/2010 - 12/2005
25' Untranslated Regions (5' UTR)IBA
02/2006 - 10/2003
2ElementsIBA
02/2006 - 04/2003
1Transcription Factors (Transcription Factor)IBA
11/2021
1MicroRNAs (MicroRNA)IBA
11/2021
1EstersIBA
01/2021
1Lipase (Acid Lipase)FDA Link
01/2021
1Cytidine Monophosphate (CMP)IBA
12/2020
1GadoliniumIBA
12/2020
1AntibodiesIBA
10/2020
1GTP Phosphohydrolases (GTPases)IBA
01/2020
1triadinIBA
01/2020
1PlasticsIBA
01/2020
1Indicators and Reagents (Reagents)IBA
01/2020
1Hazardous Substances (Hazardous Materials)IBA
01/2020
1gamma-Glutamyltransferase (gamma-Glutamyl Transpeptidase)IBA
12/2019
1BilirubinIBA
12/2019
1Formaldehyde (Formol)FDA Link
02/2019
1ParaffinIBA
02/2019
1Biological ProductsIBA
01/2019
1AutoantibodiesIBA
03/2018
1Insulin (Novolin)FDA Link
03/2018
1Phosphotransferases (Kinase)IBA
10/2017
1Hypertonic SolutionsIBA
10/2017
1Adrenal Cortex Hormones (Corticosteroids)IBA
10/2017
1Macrophage Migration-Inhibitory FactorsIBA
08/2015
1RNA (Ribonucleic Acid)IBA
08/2015
1Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA
08/2015
1EndoglinIBA
08/2015
1Tyrosine (L-Tyrosine)FDA Link
08/2015
1Hypoxia-Inducible Factor 1IBA
08/2015
1SpastinIBA
02/2015

Therapy/Procedure

8Therapeutics
12/2020 - 07/2009
2Personal Protective Equipment
12/2020 - 01/2020
1Implantable Defibrillators (Implantable Cardioverter-Defibrillator)
12/2020
1Hematopoietic Stem Cell Transplantation
04/2016