Marco Tartaglia Selected Research

Noonan Syndrome (Female Pseudo-Turner Syndrome)

1/2022	SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.
1/2022	Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
1/2022	European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe.
12/2021	MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease.
1/2021	Recognition Memory in Noonan Syndrome.
1/2021	Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.
1/2021	Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders.
1/2020	Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
1/2019	Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
1/2018	Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

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Marco Tartaglia Research Topics

Disease

35	Noonan Syndrome (Female Pseudo-Turner Syndrome) 01/2022 - 10/2002
23	Neoplasms (Cancer) 12/2021 - 04/2006
9	Intellectual Disability (Idiocy) 01/2022 - 10/2016
7	Neurodegenerative Diseases (Neurodegenerative Disease) 06/2022 - 10/2016
7	Inborn Genetic Diseases (Disease, Hereditary) 06/2022 - 09/2011
7	LEOPARD Syndrome (Syndrome, LEOPARD) 01/2021 - 02/2006
5	Carcinogenesis 08/2022 - 10/2015
5	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2022 - 03/2011
5	Colorectal Neoplasms (Colorectal Cancer) 12/2018 - 11/2008
4	Congenital Heart Defects (Congenital Heart Defect) 01/2022 - 09/2004
4	Deafness (Deaf Mutism) 11/2021 - 06/2010
4	Epilepsy (Aura) 06/2021 - 01/2016
4	Mitochondrial Diseases (Mitochondrial Disease) 12/2020 - 01/2017
4	Brain Diseases (Brain Disorder) 01/2020 - 04/2016
4	Precursor Cell Lymphoblastic Leukemia-Lymphoma (Acute Lymphoblastic Leukemia) 11/2015 - 03/2009
3	Neurodevelopmental Disorders 09/2022 - 01/2019
3	Muscle Hypotonia (Hypotonia) 09/2022 - 04/2016
3	Seizures (Absence Seizure) 01/2022 - 04/2016
3	Megalencephaly 01/2021 - 01/2018
3	Atrophy 01/2020 - 04/2016
3	Leukemia 09/2011 - 02/2006
2	Ependymoma 09/2022 - 11/2017
2	Hepatocellular Carcinoma (Hepatoma) 01/2022 - 11/2021
2	Movement Disorders (Movement Disorder) 01/2022 - 01/2019
2	Ataxia (Dyssynergia) 11/2021 - 01/2018
2	Cardiomyopathies (Cardiomyopathy) 11/2021 - 07/2015
2	Rare Diseases (Rare Disease) 11/2021 - 01/2021
2	Neurofibromatosis 1 (Neurofibromatosis Type I) 11/2021 - 11/2019
2	Lymphoma (Lymphomas) 01/2021 - 08/2015
2	Facies 01/2021 - 01/2019
2	Glioma (Gliomas) 12/2020 - 04/2006
2	Parkinsonian Disorders (Parkinsonism) 01/2020 - 01/2019
2	Optic Atrophy 01/2020 - 10/2016
2	Cognitive Dysfunction 11/2019 - 01/2019
2	Atrioventricular Septal Defect 10/2018 - 02/2013
2	Heart Failure 04/2018 - 06/2014
2	Costello Syndrome 01/2017 - 03/2010
2	Microcephaly 10/2016 - 01/2016
2	Gaucher Disease (Gaucher's Disease) 08/2015 - 11/2014
2	Noonan-Like Syndrome With Loose Anagen Hair 11/2013 - 09/2009
2	Cardiomegaly (Heart Hypertrophy) 07/2011 - 03/2011
2	Neuroblastoma 04/2006 - 05/2005
1	Cranial Nerve Diseases (Cranial Nerve Disorders) 06/2022
1	Cytochrome B-Negative Autosomal Recessive Chronic Granulomatous Disease 01/2022
1	Pancytopenia 01/2022
1	Cardiac Sudden Death (Sudden Cardiac Arrest) 01/2022
1	Histiocytosis 01/2022
1	Werner Syndrome (Werner's Syndrome) 01/2022

Drug/Important Bio-Agent (IBA)

28	Proteins (Proteins, Gene)FDA Link 01/2022 - 01/2003
10	Mitogen-Activated Protein KinasesIBA 01/2022 - 10/2006
9	Protein Tyrosine PhosphatasesIBA 01/2022 - 10/2002
5	Protein Isoforms (Isoforms)IBA 11/2021 - 05/2005
5	Phosphoric Monoester Hydrolases (Phosphatases)IBA 05/2012 - 03/2004
4	EnzymesIBA 09/2022 - 01/2016
4	Riboflavin (Vitamin B2)FDA LinkGeneric 06/2022 - 01/2020
4	Mitogen-Activated Protein Kinase Kinases (MEKs)IBA 12/2021 - 06/2009
4	Transcription Factors (Transcription Factor)IBA 01/2019 - 04/2006
3	PotassiumIBA 08/2022 - 10/2018
3	Growth Hormone (Somatotropin)IBA 01/2022 - 11/2015
3	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 11/2021 - 08/2010
3	Neurofibromin 1 (Neurofibromin)IBA 11/2021 - 08/2015
3	Phosphotransferases (Kinase)IBA 01/2020 - 04/2009
3	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 01/2019 - 09/2009
3	TubulinIBA 01/2018 - 10/2016
3	GTP Phosphohydrolases (GTPases)IBA 01/2017 - 03/2010
2	NucleotidesIBA 09/2022 - 12/2017
2	TAE226IBA 01/2022 - 11/2021
2	Sorafenib (BAY 43-9006)FDA Link 01/2022 - 11/2021
2	Focal Adhesion Protein-Tyrosine KinasesIBA 01/2022 - 11/2021
2	Protein Kinases (Protein Kinase)IBA 01/2022 - 01/2020
2	MitogensIBA 01/2022 - 11/2017
2	CollagenIBA 12/2021 - 11/2017
2	Non-Receptor Type 11 Protein Tyrosine PhosphataseIBA 11/2021 - 03/2011
2	Potassium Channels (Potassium Channel)IBA 06/2021 - 09/2020
2	CytokinesIBA 01/2021 - 01/2019
2	Monomeric GTP-Binding ProteinsIBA 01/2021 - 01/2018
2	SH2 Domain-Containing Protein Tyrosine PhosphatasesIBA 01/2021 - 01/2017
2	Guanine Nucleotide Exchange Factors (Guanine Nucleotide Exchange Factor)IBA 01/2021 - 01/2007
2	Biological ProductsIBA 01/2021 - 11/2009
2	Everolimus FDA Link 12/2020 - 08/2020
2	Histones (Histone)IBA 12/2020 - 01/2019
2	CalcineurinIBA 10/2018 - 07/2011
2	Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA 01/2018 - 08/2007
2	Epidermal Growth Factor (EGF)IBA 11/2017 - 03/2004
2	Glucosylceramides (Glucocerebrosides)IBA 08/2015 - 11/2014
2	SaposinsIBA 08/2015 - 11/2014
1	transcription factor S-IIIBA 09/2022
1	RNA Polymerase II (RNA Polymerase B)IBA 09/2022
1	Peptide Elongation Factors (Elongation Factor)IBA 09/2022
1	Ether (Diethyl Ether)IBA 08/2022
1	FlavoproteinsIBA 06/2022
1	Leucine (L-Leucine)FDA Link 01/2022
1	EmapalumabIBA 01/2022
1	Anti-Bacterial Agents (Antibiotics)IBA 01/2022
1	Reactive Oxygen Species (Oxygen Radicals)IBA 01/2022
1	DolicholsIBA 01/2022
1	Glycoproteins (Glycoprotein)IBA 01/2022

Therapy/Procedure

14	Therapeutics 01/2022 - 04/2010
2	Drug Therapy (Chemotherapy) 01/2022 - 01/2021
1	Implantable Defibrillators (Implantable Cardioverter-Defibrillator) 01/2022