Maria Cristina Digilio 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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Maria Cristina Digilio Research Topics

Disease

7	Noonan Syndrome (Female Pseudo-Turner Syndrome) 01/2021 - 01/2007
5	Intellectual Disability (Idiocy) 09/2020 - 02/2010
4	Congenital Heart Defects (Congenital Heart Defect) 05/2015 - 03/2003
2	Neurodevelopmental Disorders 09/2022 - 01/2022
2	Rare Diseases (Rare Disease) 01/2022 - 11/2021
2	KBG syndrome 01/2020 - 11/2019
2	Atrioventricular Septal Defect 10/2018 - 02/2013
2	Kabuki syndrome 12/2017 - 01/2012
2	DiGeorge Syndrome (Syndrome, DiGeorge) 10/2016 - 05/2015
1	Ependymoma 09/2022
1	Muscle Hypotonia (Hypotonia) 09/2022
1	Cardiomyopathies (Cardiomyopathy) 01/2022
1	Genomic Instability 01/2022
1	Astrocytoma (Pilocytic Astrocytoma) 01/2021
1	Trichothiodystrophy Syndromes 01/2021
1	Xeroderma Pigmentosum (Kaposi's Disease) 01/2021
1	Neoplasms (Cancer) 01/2021
1	Agenesis of Cerebellar Vermis 12/2020
1	Hypogonadism (Hypergonadotropic Hypogonadism) 12/2020
1	Coloboma (Colobomas) 12/2020
1	Epilepsy (Aura) 09/2020
1	Gingival Overgrowth 09/2020
1	Hypertrichosis 09/2020
1	Channelopathies 09/2020
1	Megalencephaly 09/2020
1	Cardiac Arrhythmias (Arrythmia) 10/2018
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 04/2018
1	Heart Failure 04/2018
1	Psychotic Disorders (Schizoaffective Disorder) 10/2016
1	CHARGE Syndrome 09/2015
1	Neurofibroma 08/2015
1	Atrial Heart Septal Defects (Atrial Septal Defect) 12/2014
1	Holt-Oram syndrome 12/2014
1	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2014
1	Alagille Syndrome (Alagille-Watson Syndrome) 12/2013
1	Crisscross Heart 10/2010
1	Supravalvular Aortic Stenosis (Aortic Supravalvular Stenosis) 03/2010
1	Cardiomegaly (Heart Hypertrophy) 05/2008
1	Hemorrhage 01/2008
1	Hypocalcemia 01/2008
1	Bronchomalacia 01/2008
1	Down Syndrome (Down's Syndrome) 05/2003
1	Tetralogy of Fallot (Fallot Tetralogy) 04/2003
1	Syndactyly (Polysyndactyly) 03/2003
1	Hypospadias 03/2003
1	Smith-Lemli-Opitz Syndrome 03/2003

Drug/Important Bio-Agent (IBA)

4	Proteins (Proteins, Gene)FDA Link 01/2022 - 02/2013
3	DNA (Deoxyribonucleic Acid)IBA 01/2022 - 05/2008
3	Mitogen-Activated Protein KinasesIBA 01/2021 - 01/2007
2	EnzymesIBA 09/2022 - 05/2003
2	Growth Hormone (Somatotropin)IBA 01/2021 - 12/2020
2	Guanine Nucleotide Exchange Factors (Guanine Nucleotide Exchange Factor)IBA 01/2021 - 01/2007
2	PotassiumIBA 09/2020 - 10/2018
1	Peptide Elongation Factors (Elongation Factor)IBA 09/2022
1	transcription factor S-IIIBA 09/2022
1	NucleotidesIBA 09/2022
1	RNA Polymerase II (RNA Polymerase B)IBA 09/2022
1	Cytidine Monophosphate (CMP)IBA 01/2022
1	Staphylococcal Protein A (Protein A)IBA 01/2021
1	KATP ChannelsIBA 09/2020
1	Potassium Channels (Potassium Channel)IBA 09/2020
1	Adenosine Triphosphate (ATP)IBA 09/2020
1	Biomarkers (Surrogate Marker)IBA 01/2020
1	CalcineurinIBA 10/2018
1	Nonsense Codon (Nonsense Mutation)IBA 05/2018
1	TOR Serine-Threonine KinasesIBA 04/2018
1	Monomeric GTP-Binding ProteinsIBA 01/2018
1	ChromatinIBA 12/2017
1	Polytetrafluoroethylene (Teflon)FDA Link 10/2016
1	Omega-3 Fatty Acids (Omega 3 Fatty Acids)IBA 10/2016
1	Unsaturated Fatty Acids (Polyunsaturated Fatty Acids)IBA 10/2016
1	Initiator Codon (Start Codon)IBA 09/2015
1	Neurofibromin 1 (Neurofibromin)IBA 08/2015
1	Facilitative Glucose Transport Proteins (Glucose Transporter)IBA 05/2015
1	Amino Acids FDA Link 12/2014
1	Serine (L-Serine)FDA Link 12/2014
1	Transcription Factors (Transcription Factor)IBA 12/2014
1	Leucine (L-Leucine)FDA Link 12/2014
1	CalciumIBA 01/2014
1	Phosphorus (Red Phosphorus)IBA 01/2014
1	Transaminases (Aminotransferases)IBA 12/2013
1	BilirubinIBA 12/2013
1	Histones (Histone)IBA 01/2012
1	Histone DemethylasesIBA 01/2012
1	Connexin 43 (Connexin43)IBA 10/2010
1	ElastinIBA 03/2010
1	OligonucleotidesIBA 02/2010
1	Mitogen-Activated Protein Kinase Kinases (MEKs)IBA 06/2009
1	AntioxidantsIBA 05/2003
1	Glutathione (Reduced Glutathione)IBA 05/2003
1	glutathionyl hemoglobinIBA 05/2003
1	beta-cyclodextrin tetradecasulfate (CTDS)IBA 04/2003
1	CholesterolIBA 03/2003

Therapy/Procedure

1	Conservative Treatment 11/2021
1	Therapeutics 04/2018
1	Ligation 01/2010
1	Operative Surgical Procedures 01/2008