Giuseppe Zampino Selected Research

Noonan Syndrome (Female Pseudo-Turner Syndrome)

1/2022	Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
1/2022	SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.
1/2021	Recognition Memory in Noonan Syndrome.
1/2020	Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
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.
8/2010	Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
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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Giuseppe Zampino Research Topics

Disease

15	Noonan Syndrome (Female Pseudo-Turner Syndrome) 01/2022 - 10/2002
7	Neoplasms (Cancer) 01/2021 - 04/2009
4	Epilepsy (Aura) 09/2020 - 09/2003
3	Intellectual Disability (Idiocy) 09/2020 - 02/2010
2	Down Syndrome (Down's Syndrome) 08/2022 - 07/2013
2	COVID-19 08/2022 - 02/2022
2	Smith-Magenis Syndrome 01/2022 - 03/2010
2	Inborn Genetic Diseases (Disease, Hereditary) 04/2021 - 03/2012
2	Megalencephaly 01/2021 - 09/2020
2	Cardiofaciocutaneous syndrome 01/2021 - 11/2020
2	De Lange Syndrome (Cornelia De Lange Syndrome) 01/2021 - 01/2020
2	Congenital Abnormalities (Deformity) 01/2021 - 06/2006
2	Pycnodysostosis 08/2014 - 03/2012
2	Apnea 03/2010 - 02/2006
2	LEOPARD Syndrome (Syndrome, LEOPARD) 08/2007 - 02/2006
1	Werner Syndrome (Werner's Syndrome) 01/2022
1	Pulmonary Valve Stenosis (Pulmonary Stenosis) 01/2022
1	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 10/2021
1	Al-Gazali Syndrome 10/2021
1	Spondyloepimetaphyseal Dysplasia With Joint Laxity 10/2021
1	KBG syndrome 01/2021
1	Fetal Diseases (Embryopathy) 01/2021
1	Snijders Blok-Campeau syndrome 10/2020
1	Gingival Overgrowth 09/2020
1	Channelopathies 09/2020
1	Hypertrichosis 09/2020
1	Costello Syndrome 07/2020
1	Dystonia (Limb Dystonia) 07/2020
1	Anetoderma 05/2020
1	Gastroesophageal Reflux (GERD) 01/2020
1	Carcinogenesis 01/2020
1	Atrophy 01/2020
1	Muscle Hypotonia (Hypotonia) 01/2020
1	Nasodigitoacoustic syndrome 01/2019
1	Asphyxia (Suffocation) 01/2019
1	Carcinoma (Carcinomatosis) 01/2019
1	Cryptorchidism (Undescended Testes) 01/2019
1	Diabetes Mellitus 01/2019
1	Hyperinsulinism (Hyperinsulinemia) 01/2019
1	Hyperplasia 01/2019
1	Macroglossia 01/2019
1	Scoliosis 01/2019
1	Proteus Syndrome 01/2019
1	Rare Diseases (Rare Disease) 01/2019
1	Urolithiasis 01/2019
1	Azoospermia 01/2019
1	Cardiac Arrhythmias (Arrythmia) 10/2018
1	Proteinuria 01/2018
1	Chronic Renal Insufficiency 01/2018
1	Keratitis 01/2017
1	Microcephaly 01/2016

Drug/Important Bio-Agent (IBA)

8	Proteins (Proteins, Gene)FDA Link 01/2022 - 02/2006
3	Protein Tyrosine PhosphatasesIBA 01/2022 - 10/2002
3	Mitogen-Activated Protein KinasesIBA 01/2021 - 01/2007
2	Protein Kinases (Protein Kinase)IBA 01/2022 - 01/2020
2	Biological ProductsIBA 04/2021 - 01/2021
2	Immunoglobulins (Immunoglobulin)IBA 11/2020 - 01/2016
2	PotassiumIBA 09/2020 - 10/2018
2	Biomarkers (Surrogate Marker)IBA 01/2020 - 07/2013
2	Phosphotransferases (Kinase)IBA 01/2020 - 04/2009
2	Mitogen-Activated Protein Kinase Kinases (MEKs)IBA 08/2014 - 06/2009
2	Cathepsin KIBA 08/2014 - 03/2012
2	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 08/2013 - 08/2010
2	Hemoglobins (Hemoglobin)IBA 03/2010 - 02/2006
1	Messenger RNA (mRNA)IBA 08/2022
1	COVID-19 VaccinesIBA 08/2022
1	BNT162 VaccineIBA 08/2022
1	fibrin fragment D (D-dimer)IBA 02/2022
1	Leucine (L-Leucine)FDA Link 01/2022
1	Tretinoin (Retinoic Acid)FDA LinkGeneric 01/2022
1	MitogensIBA 01/2022
1	GlycosaminoglycansIBA 10/2021
1	GalactosyltransferasesIBA 10/2021
1	P-2 (P 2)IBA 01/2021
1	ChromatinIBA 01/2021
1	DNA HelicasesIBA 10/2020
1	Adenosine Triphosphate (ATP)IBA 09/2020
1	Potassium Channels (Potassium Channel)IBA 09/2020
1	KATP ChannelsIBA 09/2020
1	Trihexyphenidyl (Artane)FDA LinkGeneric 07/2020
1	Vitamin K 1 (Phylloquinone)FDA LinkGeneric 05/2020
1	Mitogen-Activated Protein Kinase 1 (p42 MAP Kinase)IBA 01/2020
1	COOH-terminal signal transamidaseIBA 01/2020
1	Proton Pump InhibitorsIBA 01/2020
1	Sirolimus (Rapamycin)FDA Link 01/2019
1	MiransertibIBA 01/2019
1	Therapeutic UsesIBA 01/2019
1	GlypicansIBA 01/2019
1	Angiotensin-Converting Enzyme Inhibitors (ACE Inhibitors)IBA 01/2018
1	Ciliary Neurotrophic Factor (CNTF)IBA 01/2017
1	SH2 Domain-Containing Protein Tyrosine PhosphatasesIBA 01/2017
1	Extracellular Signal-Regulated MAP Kinases (Extracellular Signal Regulated Kinases)IBA 11/2015

Therapy/Procedure

2	Precision Medicine 01/2019 - 01/2016
2	Therapeutics 01/2019 - 01/2018
2	Sutures (Suture) 05/2009 - 06/2006
1	Catheters 01/2022
1	Bariatric Surgery 01/2021
1	Biliopancreatic Diversion 01/2021
1	Fundoplication 01/2020
1	Pancreatectomy 01/2019