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Andrea Ciolfi Selected Research

Spondyloepimetaphyseal Dysplasia With Joint Laxity

10/2021Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.

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Andrea Ciolfi Research Topics

Disease

4Neoplasms (Cancer)
01/2021 - 01/2017
3Noonan Syndrome (Female Pseudo-Turner Syndrome)
01/2022 - 11/2015
2Ataxia (Dyssynergia)
11/2021 - 01/2018
2Glioblastoma (Glioblastoma Multiforme)
01/2021 - 01/2017
2Carcinogenesis
01/2020 - 01/2020
2Atrophy
01/2020 - 10/2016
2Intellectual Disability (Idiocy)
01/2019 - 10/2016
2Neurodegenerative Diseases (Neurodegenerative Disease)
10/2016 - 10/2016
1Infections
01/2022
1Macrophage Activation Syndrome
01/2022
1Cytochrome B-Negative Autosomal Recessive Chronic Granulomatous Disease
01/2022
1Necrotizing Pneumonia
01/2022
1Histiocytosis
01/2022
1Chronic Granulomatous Disease
01/2022
1Werner Syndrome (Werner's Syndrome)
01/2022
1Deafness (Deaf Mutism)
11/2021
1Cardiomyopathies (Cardiomyopathy)
11/2021
1Dystonia (Limb Dystonia)
11/2021
1Spondyloepimetaphyseal Dysplasia With Joint Laxity
10/2021
1Al-Gazali Syndrome
10/2021
1Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)
10/2021
1Brain Neoplasms (Brain Tumor)
01/2021
1Hodgkin Disease (Hodgkin's Disease)
01/2021
1Lymphoma (Lymphomas)
01/2021
1Non-Hodgkin Lymphoma (Lymphosarcoma)
01/2021
1Agenesis of Cerebellar Vermis
12/2020
1Coloboma (Colobomas)
12/2020
1Hypogonadism (Hypergonadotropic Hypogonadism)
12/2020
1Parkinsonian Disorders (Parkinsonism)
01/2020
1Muscle Hypotonia (Hypotonia)
01/2020
1Epilepsy (Aura)
01/2020
1Neurodevelopmental Disorders
01/2019
1Cardiac Arrhythmias (Arrythmia)
10/2018
1Paraplegia (Spastic Paraplegia)
01/2018
1Polyneuropathies (Polyneuropathy)
01/2018
1Spastic Ataxia
01/2018
1Mitochondrial Diseases (Mitochondrial Disease)
12/2017
1Strudwick syndrome
11/2017
1Ependymoma
11/2017
1Lujan Fryns syndrome
05/2017
1Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
05/2017
1Glioma (Gliomas)
01/2017
1Seizures (Absence Seizure)
10/2016
1Optic Atrophy
10/2016
1Type 1 Kenny-Caffey syndrome
10/2016
1Microcephaly
10/2016
1Hypoparathyroidism
10/2016
1Quadriplegia (Spastic Quadriplegia)
10/2016
1Brain Diseases (Brain Disorder)
10/2016

Drug/Important Bio-Agent (IBA)

3TubulinIBA
01/2018 - 10/2016
2Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA
11/2021 - 08/2013
1Anti-Bacterial Agents (Antibiotics)IBA
01/2022
1NADPH Oxidases (NAD(P)H oxidase)IBA
01/2022
1Reactive Oxygen Species (Oxygen Radicals)IBA
01/2022
1Protein Tyrosine PhosphatasesIBA
01/2022
1SteroidsIBA
01/2022
1UbiquitinIBA
11/2021
1Lysine (L-Lysine)FDA Link
11/2021
1MethyltransferasesIBA
11/2021
1Histone MethyltransferasesIBA
11/2021
1GlycosaminoglycansIBA
10/2021
1GalactosyltransferasesIBA
10/2021
1A 17 (A-17)IBA
01/2021
1CytokinesIBA
01/2021
1Interleukin-7 (Interleukin 7)IBA
01/2021
1Interleukin-15 (Interleukin 15)IBA
01/2021
1Growth Hormone (Somatotropin)IBA
12/2020
1A-Form DNA (A-DNA)IBA
01/2020
1tazemetostatIBA
01/2020
1COOH-terminal signal transamidaseIBA
01/2020
1Phosphotransferases (Kinase)IBA
01/2020
1Protein Kinases (Protein Kinase)IBA
01/2020
1Levodopa (L Dopa)FDA LinkGeneric
01/2020
1Tryptophan-tRNA LigaseIBA
01/2020
1Mitogen-Activated Protein Kinase 1 (p42 MAP Kinase)IBA
01/2020
1ChromatinIBA
01/2019
1Histones (Histone)IBA
01/2019
1Nuclear Proteins (Protein, Nuclear)IBA
01/2019
1PotassiumIBA
10/2018
1KinesinsIBA
01/2018
1Nonsense Codon (Nonsense Mutation)IBA
12/2017
1NucleotidesIBA
12/2017
1Fibronectins (Fibronectin)IBA
11/2017
1MitogensIBA
11/2017
1Fibroblast Growth Factor 2 (Basic Fibroblast Growth Factor)IBA
11/2017
1Epidermal Growth Factor (EGF)IBA
11/2017
1Tyrosine Kinase InhibitorsIBA
11/2017
1Fibrillin-1IBA
05/2017
1Biomarkers (Surrogate Marker)IBA
01/2017
1IntegrinsIBA
01/2017
1Laminin ReceptorsIBA
01/2017
1Messenger RNA (mRNA)IBA
01/2017
1integrin alpha7beta1IBA
01/2017
1Laminin (Merosin)IBA
01/2017
1Protein Isoforms (Isoforms)IBA
10/2016
1Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA
10/2016
1Extracellular Signal-Regulated MAP Kinases (Extracellular Signal Regulated Kinases)IBA
11/2015
1Proteins (Proteins, Gene)FDA Link
11/2015

Therapy/Procedure

2Therapeutics
01/2020 - 01/2019
1Drug Therapy (Chemotherapy)
01/2021