Patrizia Noris Selected Research

MYH9-Related Disorders

2/2019	MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder.
2/2014	MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.
1/2013	MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations.
1/2012	Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.
3/2008	Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.
1/2003	Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome).
4/2002	Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders.

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Patrizia Noris Research Topics

Disease

20	Thrombocytopenia (Thrombopenia) 01/2022 - 03/2006
11	Hemorrhage 01/2022 - 05/2006
7	MYH9-Related Disorders 02/2019 - 04/2002
2	Cataract (Cataracts) 02/2019 - 11/2005
2	Deafness (Deaf Mutism) 02/2019 - 11/2005
2	Thrombasthenia (Glanzmann Thrombasthenia) 08/2015 - 05/2009
2	Neoplasms (Cancer) 06/2015 - 02/2013
2	Bernard-Soulier Syndrome (Giant Platelet Syndrome) 09/2014 - 03/2011
2	Idiopathic Thrombocytopenic Purpura (Thrombocytopenic Purpura, Autoimmune) 07/2013 - 02/2013
2	acquired Thrombotic thrombocytopenic purpura 08/2011 - 06/2010
2	Thrombotic Thrombocytopenic Purpura 08/2011 - 06/2010
2	Glomerulonephritis 11/2005 - 01/2003
1	Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 08/2015
1	Hermanski-Pudlak Syndrome (Hermansky-Pudlak Syndrome) 08/2015
1	Thrombocytopenia chromosome breakage 02/2014
1	Leukemia 02/2014
1	Cytopenia 02/2013
1	Gastritis 02/2013
1	Neutropenia 02/2013
1	Inborn Genetic Diseases (Disease, Hereditary) 02/2013
1	Hemolytic Anemia 08/2011
1	Thrombotic Microangiopathies 08/2011
1	Thrombosis (Thrombus) 08/2011
1	Myeloproliferative Disorders (Myeloproliferative Disorder) 03/2009
1	Thrombocytosis (Thrombocythemia) 12/2007
1	Bone Marrow Failure Disorders 09/2007
1	Congenital amegakaryocytic thrombocytopenia 09/2007
1	Pancytopenia 09/2007
1	von Willebrand Diseases (von Willebrand's Disease) 05/2006
1	Thrombocytopenia 1 01/2004
1	Thalassemia 01/2004
1	Dyserythropoietic Anemia with Thrombocytopenia 01/2004
1	Nephrotic Syndrome (Syndrome, Nephrotic) 01/2003
1	Renal Insufficiency (Renal Failure) 01/2003
1	Proteinuria 01/2003
1	Inflammation (Inflammations) 06/2002

Drug/Important Bio-Agent (IBA)

7	Thrombopoietin (c-mpl Ligand)IBA 01/2020 - 09/2007
4	Myosin Heavy Chains (Myosin Heavy Chain)IBA 02/2019 - 11/2005
4	Nonmuscle Myosin Type IIAIBA 01/2013 - 04/2002
3	EnzymesIBA 01/2022 - 01/2012
3	von Willebrand FactorIBA 09/2014 - 05/2006
3	5' Untranslated Regions (5' UTR)IBA 02/2014 - 01/2011
2	Transcription Factors (Transcription Factor)IBA 01/2022 - 10/2012
2	Adenosine Diphosphate (ADP)IBA 01/2022 - 06/2002
2	eltrombopag FDA Link 01/2020 - 12/2010
2	Hemostatics (Antihemorrhagics)IBA 01/2020 - 01/2017
2	Proteasome Endopeptidase Complex (Proteasome)IBA 06/2015 - 02/2013
2	UbiquitinIBA 06/2015 - 02/2013
2	Proteins (Proteins, Gene)FDA Link 06/2015 - 02/2013
2	thiamine triphosphorate (TTP)IBA 08/2011 - 06/2010
1	Low-Molecular-Weight Heparin (Heparin, Low Molecular Weight)IBA 01/2020
1	CollagenIBA 01/2019
1	convulxinIBA 01/2019
1	Fibrinogen (Factor I)FDA Link 11/2016
1	Prostaglandin H2 Thromboxane A2 ReceptorsIBA 08/2015
1	NucleotidesIBA 05/2015
1	ActininIBA 01/2015
1	Inosine Triphosphate (ITP)IBA 07/2013
1	DiamondIBA 02/2013
1	Dronabinol (THC)FDA LinkGeneric 10/2012
1	ThrombospondinsIBA 08/2011
1	AutoantibodiesIBA 08/2011
1	Investigational DrugsIBA 08/2011
1	Metalloproteases (Metalloproteinases)IBA 08/2011
1	DisintegrinsIBA 08/2011
1	Thrombopoietin ReceptorsIBA 12/2010
1	Methylprednisolone FDA LinkGeneric 06/2010
1	IntegrinsIBA 05/2009
1	Platelet Glycoprotein GPIIb-IIIa ComplexIBA 05/2009
1	BuffersIBA 03/2009
1	Acute-Phase Proteins (Acute-Phase Protein)IBA 12/2007
1	Interleukin-6 (Interleukin 6)IBA 12/2007
1	Hormones (Hormone)IBA 12/2007
1	CytokinesIBA 09/2007
1	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 09/2007
1	InterferonsIBA 09/2007
1	Biological ProductsIBA 09/2007
1	Glycoproteins (Glycoprotein)IBA 03/2006
1	Integrin alpha2IBA 03/2006
1	DNA (Deoxyribonucleic Acid)IBA 01/2004
1	NPHS2 proteinIBA 01/2003
1	cerivastatin (Kazak)FDA Link 06/2002
1	Simvastatin (Zocor)FDA LinkGeneric 06/2002
1	Adenosine Triphosphate (ATP)IBA 06/2002
1	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 06/2002

Therapy/Procedure

3	Platelet Transfusion (Blood Platelet Transfusions) 01/2020 - 12/2010
2	Blood Transfusion (Blood Transfusions) 08/2015 - 08/2014
2	Therapeutics 03/2013 - 06/2010
1	Precision Medicine 02/2015
1	Hysterectomy 08/2014
1	Plasma Exchange 06/2010