Gianfranco Bocchinfuso Selected Research

LEOPARD Syndrome (Syndrome, LEOPARD)

1/2021	Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders.
2/2006	Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

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Gianfranco Bocchinfuso Research Topics

Disease

9	Noonan Syndrome (Female Pseudo-Turner Syndrome) 01/2021 - 02/2006
4	Neoplasms (Cancer) 11/2021 - 08/2014
2	Intellectual Disability (Idiocy) 01/2022 - 01/2018
2	Carcinogenesis 01/2021 - 01/2020
2	LEOPARD Syndrome (Syndrome, LEOPARD) 01/2021 - 02/2006
1	Movement Disorders (Movement Disorder) 01/2022
1	Nervous System Diseases (Neurological Disorders) 01/2022
1	Dyskinesias (Dyskinesia) 01/2022
1	Seizures (Absence Seizure) 01/2022
1	Rare Diseases (Rare Disease) 11/2021
1	Parkinsonian Disorders (Parkinsonism) 01/2020
1	Cardiac Arrhythmias (Arrythmia) 10/2018
1	Primrose syndrome 01/2018
1	Megalencephaly 01/2018
1	Breast Neoplasms (Breast Cancer) 04/2016
1	Fibrosarcoma 05/2015
1	Leukemia 02/2006

Drug/Important Bio-Agent (IBA)

3	Proteins (Proteins, Gene)FDA Link 11/2021 - 02/2006
3	Protein Tyrosine PhosphatasesIBA 08/2012 - 02/2006
2	Pharmaceutical PreparationsIBA 01/2022 - 01/2019
2	SH2 Domain-Containing Protein Tyrosine PhosphatasesIBA 01/2021 - 01/2017
1	Caffeine (No Doz)FDA LinkGeneric 01/2022
1	Non-Receptor Type 11 Protein Tyrosine PhosphataseIBA 11/2021
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/2021
1	Phosphotransferases (Kinase)IBA 01/2020
1	Tryptophan-tRNA LigaseIBA 01/2020
1	Protein Kinases (Protein Kinase)IBA 01/2020
1	Levodopa (L Dopa)FDA LinkGeneric 01/2020
1	Mitogen-Activated Protein Kinase 1 (p42 MAP Kinase)IBA 01/2020
1	Vascular Endothelial Growth FactorsIBA 01/2019
1	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 01/2019
1	PotassiumIBA 10/2018
1	Glucose (Dextrose)FDA LinkGeneric 01/2018
1	Insulin (Novolin)FDA Link 01/2018
1	Carnitine (L-Carnitine)FDA LinkGeneric 04/2016
1	Histone Deacetylase InhibitorsIBA 04/2016
1	TransferasesIBA 04/2016
1	Extracellular Signal-Regulated MAP Kinases (Extracellular Signal Regulated Kinases)IBA 11/2015
1	Transcription Factors (Transcription Factor)IBA 05/2015
1	Mitogen-Activated Protein Kinase Kinases (MEKs)IBA 08/2014
1	GTP Phosphohydrolases (GTPases)IBA 08/2014
1	Codon (Codons)IBA 08/2012
1	Protein Isoforms (Isoforms)IBA 07/2006

Therapy/Procedure

3	Therapeutics 01/2022 - 04/2016