Emanuele Agolini Selected Research

exostosin-2

1/2019

Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype.

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Emanuele Agolini Research Topics

Disease

8	Intellectual Disability (Idiocy) 04/2024 - 05/2018
7	Neoplasms (Cancer) 01/2023 - 01/2019
4	Neurodevelopmental Disorders 01/2023 - 01/2021
3	Epilepsy (Aura) 01/2023 - 01/2020
3	Ectodermal Dysplasia (Aplasia Cutis Congenita) 01/2021 - 08/2010
2	COVID-19 01/2021 - 01/2020
2	Astrocytoma (Pilocytic Astrocytoma) 01/2021 - 01/2019
2	KBG syndrome 01/2021 - 01/2020
2	Congenital Disorders of Glycosylation 01/2020 - 12/2019
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2020 - 12/2019
2	Lung Diseases (Lung Disease) 01/2019 - 12/2018
2	Zlotogora-Ogur syndrome 08/2014 - 08/2010
2	Syndactyly (Polysyndactyly) 08/2014 - 08/2010
2	Cleft Lip (Harelip) 08/2014 - 08/2010
1	Brachydactyly 04/2024
1	Pseudohypoparathyroidism 04/2024
1	Obesity 04/2024
1	Facies 04/2024
1	Polycythemia (Erythrocytosis) 01/2024
1	Chromosome Fragility 11/2023
1	Type I Plasminogen Deficiency 08/2023
1	Desmosterolosis 01/2023
1	Brain Diseases (Brain Disorder) 01/2023
1	Failure to Thrive 01/2023
1	Multiple Hamartoma Syndrome (Cowden's Disease) 01/2023
1	Neuroblastoma 01/2023
1	Acute Myeloid Leukemia (Acute Myelogenous Leukemia) 01/2023
1	Plexiform Neurofibroma 01/2023
1	Diffuse Intrinsic Pontine Glioma 01/2022
1	Neonatal hemochromatosis 01/2022
1	Kidney Diseases (Kidney Disease) 01/2022
1	Disease Progression 01/2022
1	Fibrosis (Cirrhosis) 01/2022
1	Liver Failure 01/2022
1	Ependymoma 01/2022
1	Congenital Generalized Lipodystrophy (Berardinelli-Seip Congenital Lipodystrophy) 01/2022
1	Cerebrotendinous Xanthomatosis 01/2022
1	Muscle Hypotonia (Hypotonia) 01/2022
1	Genomic Instability 01/2022
1	Cholestasis 01/2022
1	Liver Cirrhosis (Hepatic Cirrhosis) 01/2022
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2022
1	Dystonia (Limb Dystonia) 11/2021
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 04/2021
1	Bone Fractures (Bone Fracture) 04/2021
1	Fanconi Anemia (Fanconi's Anemia) 01/2021
1	De Lange Syndrome (Cornelia De Lange Syndrome) 01/2021
1	Autistic Disorder (Autism) 01/2021
1	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 01/2021
1	Hearing Loss (Hearing Impairment) 01/2021
1	Trichothiodystrophy Syndromes 01/2021

Drug/Important Bio-Agent (IBA)

9	Proteins (Proteins, Gene)FDA Link 01/2022 - 01/2018
3	EnzymesIBA 01/2024 - 01/2020
3	DNA (Deoxyribonucleic Acid)IBA 11/2023 - 01/2021
2	Biomarkers (Surrogate Marker)IBA 01/2021 - 01/2020
2	ChromatinIBA 01/2021 - 01/2020
2	LipidsIBA 01/2020 - 12/2019
2	VemurafenibIBA 01/2019 - 01/2018
2	FilaminsIBA 01/2019 - 12/2018
2	NectinsIBA 08/2014 - 08/2010
1	Hormones (Hormone)IBA 04/2024
1	ManganeseIBA 01/2024
1	IronIBA 01/2024
1	FibrinIBA 08/2023
1	PlasminogenIBA 08/2023
1	Mitogen-Activated Protein Kinase Kinases (MEKs)IBA 01/2023
1	TensinsIBA 01/2023
1	Amino Acids FDA Link 01/2023
1	DesmosterolIBA 01/2023
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/2023
1	SterolsIBA 01/2023
1	Succinate Dehydrogenase (Fumarate Reductase)IBA 01/2023
1	Qa-SNARE Proteins (Syntaxin)IBA 01/2023
1	dipinacoline glutamateIBA 01/2022
1	Bile Acids and Salts (Bile Acids)IBA 01/2022
1	RNA Polymerase II (RNA Polymerase B)IBA 01/2022
1	Messenger RNA (mRNA)IBA 01/2022
1	transcription factor S-IIIBA 01/2022
1	Sirtuin 1IBA 01/2022
1	VaccinesIBA 01/2022
1	Lipid NanoparticlesIBA 01/2022
1	NucleotidesIBA 01/2022
1	BNT162 VaccineIBA 01/2022
1	Peptide Elongation Factors (Elongation Factor)IBA 01/2022
1	Lysine (L-Lysine)FDA Link 11/2021
1	MethyltransferasesIBA 11/2021
1	Histone MethyltransferasesIBA 11/2021
1	Single-Stranded DNA (DNA, Single Stranded)IBA 04/2021
1	A-Form DNA (A-DNA)IBA 04/2021
1	Ion Channels (Ion Channel)IBA 01/2021
1	Laminin (Merosin)IBA 01/2021
1	Ligases (Synthetase)IBA 01/2021
1	AnionsIBA 01/2021
1	ThrombospondinsIBA 01/2021

Therapy/Procedure

5	Therapeutics 07/2022 - 01/2019
1	Chelation Therapy (Therapy, Chelation) 01/2024
1	Artificial Eye (Artificial Eyes) 08/2023
1	Drug Therapy (Chemotherapy) 04/2022
1	Liver Transplantation 01/2022
1	Stem Cell Transplantation 01/2021