Anna Savoia Selected Research

Congenital amegakaryocytic thrombocytopenia

1/2018	Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim.
9/2007	Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.

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Anna Savoia Research Topics

Disease

17	Thrombocytopenia (Thrombopenia) 01/2022 - 08/2002
16	MYH9-Related Disorders 02/2019 - 02/2002
9	Hemorrhage 01/2022 - 05/2009
4	Cataract (Cataracts) 02/2019 - 06/2004
4	Deafness (Deaf Mutism) 02/2019 - 06/2004
3	Neoplasms (Cancer) 01/2016 - 01/2013
2	Bone Marrow Failure Disorders 01/2018 - 09/2007
2	Congenital amegakaryocytic thrombocytopenia 01/2018 - 09/2007
2	Infections 01/2018 - 01/2013
2	Hearing Loss (Hearing Impairment) 01/2016 - 04/2004
2	Thrombasthenia (Glanzmann Thrombasthenia) 04/2015 - 05/2009
2	Bernard-Soulier Syndrome (Giant Platelet Syndrome) 09/2014 - 03/2011
2	Glomerulonephritis 11/2005 - 01/2003
2	Renal Insufficiency (Renal Failure) 06/2004 - 01/2003
1	Shwachman-Diamond Syndrome 01/2016
1	Sensorineural Hearing Loss 01/2016
1	Fanconi Anemia (Fanconi's Anemia) 01/2016
1	Cytopenia 01/2016
1	Carcinogenesis 05/2014
1	Communicable Diseases (Infectious Diseases) 05/2014
1	Choroid Plexus Papilloma 05/2014
1	Inborn Genetic Diseases (Disease, Hereditary) 08/2012
1	Nephritis 12/2009
1	Pancytopenia 09/2007
1	Cleft Lip (Harelip) 06/2007
1	Cleft Palate (Palate, Cleft) 06/2007
1	Congenital Abnormalities (Deformity) 06/2004
1	Nonsyndromic Deafness 04/2004
1	Dyserythropoietic Anemia with Thrombocytopenia 01/2004
1	Thalassemia 01/2004
1	Thrombocytopenia 1 01/2004
1	Proteinuria 01/2003
1	Nephrotic Syndrome (Syndrome, Nephrotic) 01/2003
1	Hypertension (High Blood Pressure) 02/2002
1	Sexual Infantilism 02/2002
1	46,XY Disorder of Sex Development (Male Pseudohermaphroditism) 02/2002
1	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal) 02/2002

Drug/Important Bio-Agent (IBA)

10	Myosin Heavy Chains (Myosin Heavy Chain)IBA 02/2019 - 02/2002
10	Nonmuscle Myosin Type IIAIBA 01/2013 - 04/2002
6	Thrombopoietin (c-mpl Ligand)IBA 01/2018 - 09/2007
3	EnzymesIBA 01/2022 - 01/2012
2	Biological ProductsIBA 01/2016 - 09/2007
2	IntegrinsIBA 04/2015 - 05/2009
2	von Willebrand FactorIBA 09/2014 - 03/2011
2	Protein Isoforms (Isoforms)IBA 02/2014 - 06/2004
2	DNA (Deoxyribonucleic Acid)IBA 01/2013 - 01/2004
2	Myosins (Myosin)IBA 08/2012 - 04/2004
1	Transcription Factors (Transcription Factor)IBA 01/2022
1	Adenosine Diphosphate (ADP)IBA 01/2022
1	CollagenIBA 01/2019
1	convulxinIBA 01/2019
1	romiplostim FDA Link 01/2018
1	4,5,6,7- tetrahydroisoxazolo(4,5- c)pyridin- 3- ol (THPO)IBA 01/2018
1	Fibrinogen (Factor I)FDA Link 11/2016
1	CalciumIBA 01/2016
1	Amino Acids FDA Link 01/2016
1	NucleotidesIBA 05/2015
1	ActininIBA 01/2015
1	Proteasome Endopeptidase Complex (Proteasome)IBA 05/2014
1	Adenosine Triphosphate (ATP)IBA 05/2014
1	GlycogenIBA 05/2014
1	UbiquitinIBA 05/2014
1	Cytochromes c (Cytochrome c)IBA 02/2014
1	AntigensIBA 01/2013
1	Peptides (Polypeptides)IBA 07/2011
1	5' Untranslated Regions (5' UTR)IBA 01/2011
1	Thrombopoietin ReceptorsIBA 12/2010
1	eltrombopag FDA Link 12/2010
1	Platelet Glycoprotein GPIIb-IIIa ComplexIBA 05/2009
1	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 09/2007
1	CytokinesIBA 09/2007
1	InterferonsIBA 09/2007
1	Glycoproteins (Glycoprotein)IBA 03/2006
1	Integrin alpha2IBA 03/2006
1	Myosin Type IIIBA 06/2004
1	NPHS2 proteinIBA 01/2003
1	Steroid 17-alpha-Hydroxylase (17 alpha Hydroxylase)IBA 02/2002
1	Gonadal Steroid Hormones (Sex Hormones)IBA 02/2002
1	MineralocorticoidsIBA 02/2002
1	HLA Antigens (Human Leukocyte Antigens)IBA 02/2002
1	Mixed Function Oxygenases (Monooxygenases)IBA 02/2002

Therapy/Procedure

2	Hematopoietic Stem Cell Transplantation 01/2018 - 01/2016
2	Therapeutics 01/2018 - 08/2002
1	Blood Transfusion (Blood Transfusions) 08/2014
1	Hysterectomy 08/2014
1	Platelet Transfusion (Blood Platelet Transfusions) 12/2010