Giovanna Stefania Colafati Selected Research

transcription factor S-II

9/2022

Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant.

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Giovanna Stefania Colafati Research Topics

Disease

15	Neoplasms (Cancer) 03/2022 - 08/2013
3	Brain Neoplasms (Brain Tumor) 02/2021 - 08/2013
3	Glioma (Gliomas) 12/2020 - 01/2018
2	Neurodevelopmental Disorders 09/2022 - 01/2021
2	Astrocytoma (Pilocytic Astrocytoma) 01/2021 - 01/2019
2	Glycogen Storage Disease Type II (Pompe's Disease) 01/2020 - 01/2017
2	Diffuse Intrinsic Pontine Glioma 01/2019 - 05/2017
2	Medulloblastoma 07/2016 - 08/2013
1	Ependymoma 09/2022
1	Muscle Hypotonia (Hypotonia) 09/2022
1	Craniocerebral Trauma (Head Injury) 04/2022
1	Hematoma 04/2022
1	Chordoma 06/2021
1	Trichothiodystrophy Syndromes 01/2021
1	Xeroderma Pigmentosum (Kaposi's Disease) 01/2021
1	Glioblastoma (Glioblastoma Multiforme) 01/2021
1	Intellectual Disability (Idiocy) 01/2021
1	Disease Progression 12/2020
1	Cushing Syndrome 01/2020
1	Hirsutism 01/2020
1	Weight Gain 01/2020
1	Ewing Sarcoma (Sarcoma, Ewing) 01/2020
1	Acne Vulgaris 01/2020
1	Sarcoma (Soft Tissue Sarcoma) 01/2020
1	Deafness (Deaf Mutism) 08/2019
1	Down Syndrome (Down's Syndrome) 01/2019
1	Body Weight (Weight, Body) 11/2018
1	Traumatic Brain Injuries (Traumatic Brain Injury) 01/2017
1	Bronchiectasis 12/2016
1	Hearing Loss (Hearing Impairment) 12/2016
1	Adenoma (Adenomas) 04/2016
1	Galactosemias (Galactosemia) 01/2016
1	Brain Edema (Cerebral Edema) 01/2016
1	Spontaneous Remission 06/2014
1	Thrombosis (Thrombus) 06/2014
1	Hyperhomocysteinemia 06/2014
1	Neoplasm Metastasis (Metastasis) 08/2013
1	Cutis Laxa 09/2012
1	Hyperammonemia 09/2012
1	Brain Injuries (Brain Injury) 10/2005
1	Coma (Comas) 10/2005

Drug/Important Bio-Agent (IBA)

3	Proteins (Proteins, Gene)FDA Link 08/2020 - 01/2017
2	Protons (Proton)IBA 06/2021 - 01/2021
2	Biological ProductsIBA 02/2021 - 06/2014
2	Everolimus FDA Link 12/2020 - 08/2020
2	Phosphotransferases (Kinase)IBA 08/2020 - 01/2020
2	VemurafenibIBA 01/2019 - 01/2018
2	dipinacoline glutamateIBA 01/2019 - 05/2017
2	Nerve Growth Factor (NGF)IBA 01/2017 - 10/2005
1	transcription factor S-IIIBA 09/2022
1	RNA Polymerase II (RNA Polymerase B)IBA 09/2022
1	EnzymesIBA 09/2022
1	Peptide Elongation Factors (Elongation Factor)IBA 09/2022
1	NucleotidesIBA 09/2022
1	Biomarkers (Surrogate Marker)IBA 04/2022
1	Ion Channels (Ion Channel)IBA 01/2021
1	AnionsIBA 01/2021
1	Staphylococcal Protein A (Protein A)IBA 01/2021
1	DNA (Deoxyribonucleic Acid)IBA 01/2021
1	A 17 (A-17)IBA 01/2021
1	tyrosine receptor (receptor, tyrosine)IBA 08/2020
1	Adrenocorticotropic Hormone (ACTH)FDA Link 01/2020
1	thiamine triphosphorate (TTP)IBA 01/2019
1	gadoterate meglumineIBA 11/2018
1	Pharmaceutical PreparationsIBA 07/2016
1	CateninsIBA 07/2016
1	Growth Hormone (Somatotropin)IBA 04/2016
1	SugarsIBA 01/2016
1	GalactitolIBA 01/2016
1	AnticoagulantsIBA 06/2014
1	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 06/2014
1	Cytarabine (Cytosar-U)FDA LinkGeneric 08/2013
1	Oxidoreductases (Dehydrogenase)IBA 09/2012
1	OrnithineIBA 09/2012
1	Proline (L-Proline)FDA Link 09/2012
1	CitrullineIBA 09/2012
1	Arginine (L-Arginine)FDA Link 09/2012

Therapy/Procedure

7	Therapeutics 03/2022 - 10/2005
3	Proton Therapy 03/2022 - 05/2021
2	Enzyme Replacement Therapy 01/2020 - 01/2017
1	Patient Positioning 01/2021
1	Drug Tapering 12/2020
1	Stapes Surgery (Stapedectomy) 08/2019
1	Adjuvant Chemotherapy 11/2017
1	Radiotherapy 11/2017
1	Microvascular Decompression Surgery 12/2016