Francesca Pantaleoni Selected Research

Noonan Syndrome (Female Pseudo-Turner Syndrome)

1/2022	Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
1/2021	Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.
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.
1/2017	Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
11/2015	Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
8/2014	Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.
6/2009	Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.
5/2009	Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.

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Francesca Pantaleoni Research Topics

Disease

12	Noonan Syndrome (Female Pseudo-Turner Syndrome) 01/2022 - 07/2006
5	Neoplasms (Cancer) 01/2019 - 08/2007
2	Facies 01/2021 - 01/2019
2	Carcinogenesis 01/2020 - 12/2010
1	Al-Gazali Syndrome 10/2021
1	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 10/2021
1	Spondyloepimetaphyseal Dysplasia With Joint Laxity 10/2021
1	Autistic Disorder (Autism) 01/2021
1	Congenital Heart Defects (Congenital Heart Defect) 01/2021
1	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2021
1	Cognitive Dysfunction 01/2019
1	Cardiac Arrhythmias (Arrythmia) 10/2018
1	Costello Syndrome 01/2017
1	Spontaneous Fractures (Pathological Fracture) 01/2014
1	Synostosis 05/2009
1	Craniosynostoses (Craniosynostosis) 05/2009
1	Infections 08/2007

Drug/Important Bio-Agent (IBA)

5	Proteins (Proteins, Gene)FDA Link 01/2022 - 04/2009
2	Protein Kinases (Protein Kinase)IBA 01/2022 - 01/2020
2	Phosphotransferases (Kinase)IBA 01/2020 - 04/2009
2	GTP Phosphohydrolases (GTPases)IBA 01/2017 - 08/2014
2	Mitogen-Activated Protein Kinase Kinases (MEKs)IBA 08/2014 - 06/2009
1	MitogensIBA 01/2022
1	Leucine (L-Leucine)FDA Link 01/2022
1	GalactosyltransferasesIBA 10/2021
1	GlycosaminoglycansIBA 10/2021
1	Transforming Growth Factors (Transforming Growth Factor)IBA 01/2021
1	Guanine Nucleotide Exchange Factors (Guanine Nucleotide Exchange Factor)IBA 01/2021
1	Bone Morphogenetic Proteins (Bone Morphogenetic Protein)IBA 01/2021
1	Mitogen-Activated Protein Kinase 1 (p42 MAP Kinase)IBA 01/2020
1	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 01/2019
1	Hormones (Hormone)IBA 01/2019
1	CytokinesIBA 01/2019
1	PotassiumIBA 10/2018
1	Monomeric GTP-Binding ProteinsIBA 01/2018
1	SH2 Domain-Containing Protein Tyrosine PhosphatasesIBA 01/2017
1	Extracellular Signal-Regulated MAP Kinases (Extracellular Signal Regulated Kinases)IBA 11/2015
1	Vitamin D FDA LinkGeneric 01/2014
1	Peptides (Polypeptides)IBA 08/2011
1	SurvivinIBA 08/2011
1	Zoledronic Acid (Zometa)FDA Link 12/2010
1	Mevalonic Acid (Mevalonate)IBA 12/2010
1	Fibroblast Growth Factor Receptors (Fibroblast Growth Factor Receptor)IBA 05/2009
1	VaccinesIBA 08/2007
1	Protein Tyrosine PhosphatasesIBA 03/2007
1	Protein Isoforms (Isoforms)IBA 07/2006

Therapy/Procedure

1	Sutures (Suture) 05/2009
1	Cell- and Tissue-Based Therapy (Cell Therapy) 08/2007