Bruno Dallapiccola 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.
1/2020	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.
8/2007	Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
1/2007	Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
7/2006	Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.

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Bruno Dallapiccola Research Topics

Disease

12	Intellectual Disability (Idiocy) 01/2022 - 01/2009
10	Noonan Syndrome (Female Pseudo-Turner Syndrome) 01/2022 - 07/2006
8	Neoplasms (Cancer) 01/2021 - 07/2008
7	Insulin Resistance 01/2017 - 08/2002
7	beta-Thalassemia (Cooley's Anemia) 02/2011 - 03/2002
6	Congenital Heart Defects (Congenital Heart Defect) 01/2021 - 03/2003
6	Ciliopathies 01/2013 - 09/2009
4	Seizures (Absence Seizure) 10/2016 - 02/2008
4	Neurofibroma 08/2015 - 04/2006
4	Schizophrenia (Dementia Praecox) 09/2007 - 01/2003
3	Obesity 01/2022 - 05/2007
3	Ectodermal Dysplasia (Aplasia Cutis Congenita) 01/2021 - 08/2010
3	Agenesis of Cerebellar Vermis 12/2020 - 06/2006
3	Cardiomyopathies (Cardiomyopathy) 01/2020 - 02/2008
3	Non-alcoholic Fatty Liver Disease 01/2017 - 05/2014
3	DiGeorge Syndrome (Syndrome, DiGeorge) 05/2015 - 11/2011
3	Syndactyly (Polysyndactyly) 08/2014 - 03/2003
3	Alzheimer Disease (Alzheimer's Disease) 07/2009 - 01/2007
3	Parkinson Disease (Parkinson's Disease) 03/2009 - 11/2007
2	Epilepsy (Aura) 01/2021 - 12/2014
2	Hearing Loss (Hearing Impairment) 01/2021 - 10/2002
2	Atrioventricular Septal Defect 10/2018 - 02/2013
2	Dysbiosis 01/2018 - 02/2016
2	Kabuki syndrome 12/2017 - 01/2012
2	Glucose Intolerance 01/2017 - 04/2016
2	Atrophy 10/2016 - 11/2013
2	Neurodegenerative Diseases (Neurodegenerative Disease) 10/2016 - 10/2016
2	Zlotogora-Ogur syndrome 08/2014 - 08/2010
2	Cleft Lip (Harelip) 08/2014 - 08/2010
2	Muscular Diseases (Myopathy) 09/2013 - 07/2004
2	Brody myopathy 09/2013 - 07/2004
2	Tetralogy of Fallot (Fallot Tetralogy) 01/2013 - 04/2003
2	Glioma (Gliomas) 01/2009 - 03/2003
2	Ulcerative Colitis 10/2008 - 06/2005
2	Type 2 Diabetes Mellitus (MODY) 10/2007 - 09/2005
2	LEOPARD Syndrome (Syndrome, LEOPARD) 08/2007 - 02/2004
2	Cognitive Dysfunction 01/2007 - 12/2006
1	Werner Syndrome (Werner's Syndrome) 01/2022
1	Genetic Risk Score 01/2022
1	Congenital Generalized Lipodystrophy (Berardinelli-Seip Congenital Lipodystrophy) 01/2022
1	Osteoporosis 01/2021
1	Rare Diseases (Rare Disease) 01/2021
1	Facies 01/2021
1	Trichothiodystrophy Syndromes 01/2021
1	Xeroderma Pigmentosum (Kaposi's Disease) 01/2021
1	Autistic Disorder (Autism) 01/2021
1	Astrocytoma (Pilocytic Astrocytoma) 01/2021
1	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2021
1	Coloboma (Colobomas) 12/2020
1	Hypogonadism (Hypergonadotropic Hypogonadism) 12/2020
1	KBG syndrome 01/2020

Drug/Important Bio-Agent (IBA)

22	Proteins (Proteins, Gene)FDA Link 01/2022 - 08/2002
9	DNA (Deoxyribonucleic Acid)IBA 01/2021 - 12/2002
6	Insulin (Novolin)FDA Link 01/2022 - 09/2002
6	Glucose (Dextrose)FDA LinkGeneric 01/2022 - 09/2002
5	Triglycerides (Triacylglycerol)IBA 01/2017 - 09/2002
4	CholesterolIBA 04/2016 - 03/2003
4	Transcription Factors (Transcription Factor)IBA 12/2014 - 12/2007
3	Protein Tyrosine PhosphatasesIBA 01/2022 - 02/2004
3	Phosphotransferases (Kinase)IBA 01/2020 - 11/2005
3	RNA (Ribonucleic Acid)IBA 08/2011 - 10/2002
3	ApolipoproteinsIBA 07/2009 - 12/2006
3	beta-Globins (beta Globin)IBA 09/2006 - 03/2002
2	Messenger RNA (mRNA)IBA 01/2022 - 09/2007
2	Growth Hormone (Somatotropin)IBA 01/2021 - 12/2020
2	Biomarkers (Surrogate Marker)IBA 01/2020 - 02/2016
2	ChromatinIBA 01/2019 - 12/2017
2	Histones (Histone)IBA 01/2019 - 01/2012
2	TubulinIBA 10/2016 - 10/2016
2	Protein Isoforms (Isoforms)IBA 10/2016 - 07/2006
2	Ligases (Synthetase)IBA 08/2015 - 12/2012
2	Amino Acids FDA Link 12/2014 - 10/2007
2	Leucine (L-Leucine)FDA Link 12/2014 - 03/2003
2	Mitogen-Activated Protein Kinase Kinases (MEKs)IBA 08/2014 - 06/2009
2	GTP Phosphohydrolases (GTPases)IBA 08/2014 - 03/2010
2	NectinsIBA 08/2014 - 08/2010
2	GlobinsIBA 02/2011 - 09/2006
2	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 03/2010 - 09/2009
2	CalciumIBA 03/2009 - 07/2004
2	Dexamethasone (Maxidex)FDA LinkGeneric 10/2008 - 07/2004
2	SteroidsIBA 10/2008 - 06/2005
2	Mitogen-Activated Protein KinasesIBA 07/2008 - 01/2007
2	PPAR gammaIBA 06/2008 - 12/2007
2	Levodopa (L Dopa)FDA LinkGeneric 04/2008 - 08/2006
2	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 01/2008 - 07/2004
2	Glutamine (L-Glutamine)FDA Link 10/2007 - 01/2003
1	BNT162 VaccineIBA 01/2022
1	Lipid NanoparticlesIBA 01/2022
1	VaccinesIBA 01/2022
1	Transforming Growth Factors (Transforming Growth Factor)IBA 01/2021
1	Staphylococcal Protein A (Protein A)IBA 01/2021
1	Bone Morphogenetic Proteins (Bone Morphogenetic Protein)IBA 01/2021
1	ThrombospondinsIBA 01/2021
1	Laminin (Merosin)IBA 01/2021
1	Monomeric GTP-Binding ProteinsIBA 01/2021
1	Protein Kinases (Protein Kinase)IBA 01/2020

Therapy/Procedure

4	Ligation 10/2010 - 11/2006
2	Activities of Daily Living (ADL) 01/2010 - 01/2007
2	Drug Therapy (Chemotherapy) 01/2009 - 02/2008
2	Therapeutics 10/2008 - 04/2008