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Cecilia Zuppi Selected Research

Steroid 21-Hydroxylase (21 Hydroxylase)

1/2017CYP21A2 intronic variants causing 21-hydroxylase deficiency.
3/2013CYP21A2 p.E238 deletion as result of multiple microconversion events: a genetic study on an Italian congenital adrenal hyperplasia (CAH) family.
4/2012p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients.
8/2010Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations.
10/2009Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia.
7/2009A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form.
4/2009Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report.
3/2009Two novel CYP21A2 missense mutations in Italian patients with 21-hydroxylase deficiency: Identification and functional characterisation.
1/2009A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency.

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Cecilia Zuppi Research Topics

Disease

10Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal)
01/2017 - 01/2009
6Neoplasms (Cancer)
03/2014 - 04/2005
6Type 1 Diabetes Mellitus (Autoimmune Diabetes)
12/2009 - 01/2002
5Inflammation (Inflammations)
01/2018 - 02/2009
5Melanoma (Melanoma, Malignant)
10/2012 - 12/2005
4Hypertension (High Blood Pressure)
11/2016 - 02/2007
4Lung Injury
05/2012 - 09/2005
4Bronchopulmonary Dysplasia
01/2008 - 05/2006
3Neoplasm Metastasis (Metastasis)
01/2016 - 03/2003
3Thyroid Neoplasms (Thyroid Cancer)
01/2016 - 01/2012
3Cardiovascular Diseases (Cardiovascular Disease)
10/2013 - 01/2009
3Hypocalcemia
06/2012 - 12/2004
3Meconium Aspiration Syndrome
05/2012 - 02/2009
2Hypogonadism (Hypergonadotropic Hypogonadism)
01/2018 - 11/2012
2Eosinophilia
06/2015 - 08/2014
2Circulating Neoplastic Cells
11/2013 - 12/2005
2Gilbert Disease
04/2013 - 02/2010
2Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
03/2013 - 01/2009
2Autoimmune Diseases (Autoimmune Disease)
02/2013 - 09/2006
2Lung Diseases (Lung Disease)
09/2012 - 09/2005
2Macular Degeneration (Age-Related Maculopathy)
08/2012 - 01/2012
2Surfactant Dysfunction
05/2012 - 02/2009
2Infections
05/2012 - 05/2011
2Respiratory Distress Syndrome (Acute Respiratory Distress Syndrome)
05/2012 - 02/2009
2Pneumonia (Pneumonitis)
05/2012 - 02/2009
2Glucosephosphate Dehydrogenase Deficiency
01/2009 - 08/2008
2Retinopathy of Prematurity (Retrolental Fibroplasia)
01/2008 - 01/2007
2Diabetes Complications
09/2006 - 06/2006
2Acute Coronary Syndrome
10/2005 - 05/2004
2Hepatocellular Carcinoma (Hepatoma)
04/2005 - 03/2003
1Male Infertility (Male Sterility)
01/2018
1Infertility (Sterility)
01/2018
1Graft vs Host Disease (Graft-Versus-Host Disease)
06/2017
1Diabetic Nephropathies (Diabetic Nephropathy)
11/2016
1Chronic Renal Insufficiency
11/2016
1Multiple Myeloma
09/2016
1Irritable Bowel Syndrome (Syndrome, Irritable Bowel)
01/2016
1Lactose Intolerance (Intolerance, Lactose)
01/2015
1Rhinosinusitis
08/2014
1Allergic Rhinitis
08/2014
1Polyps
08/2014
1Rhinitis
08/2014
1Cardiotoxicity
10/2013
1Birth Weight (Birth Weights)
09/2013
1Albuminuria
05/2013
1Proteinuria
05/2013
1Crigler-Najjar Syndrome
04/2013

Drug/Important Bio-Agent (IBA)

9Steroid 21-Hydroxylase (21 Hydroxylase)IBA
01/2017 - 01/2009
6Insulin-Like Growth Factor I (IGF-1)IBA
04/2008 - 06/2006
5EnzymesIBA
05/2012 - 06/2006
3Proteins (Proteins, Gene)FDA Link
01/2018 - 04/2005
3Testosterone (Sustanon)FDA Link
01/2018 - 10/2011
3AlbuminsIBA
11/2016 - 03/2003
3CalciumIBA
01/2016 - 12/2004
3Messenger RNA (mRNA)IBA
12/2013 - 12/2005
3Biomarkers (Surrogate Marker)IBA
10/2013 - 04/2005
3UGT1A1 enzymeIBA
04/2013 - 02/2010
3DNA (Deoxyribonucleic Acid)IBA
01/2013 - 02/2009
3CytokinesIBA
09/2012 - 09/2005
3Nitric Oxide (Nitrogen Monoxide)FDA Link
12/2009 - 02/2007
3Insulin-Like Growth Factor Binding Protein 3IBA
02/2007 - 06/2006
3Pregnancy-Associated Plasma Protein-A (PAPP-A)IBA
01/2007 - 05/2004
2Calcitonin (Calcitonin, Eel)FDA LinkGeneric
01/2016 - 03/2014
2Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA
05/2013 - 01/2003
2SaltsIBA
03/2013 - 01/2009
2Complement Factor H (Factor H)IBA
08/2012 - 01/2012
2Hydrocortisone (Cortisol)FDA LinkGeneric
07/2012 - 05/2010
2Secretory Phospholipases A2IBA
05/2012 - 02/2009
2Surface-Active Agents (Surfactants)IBA
05/2012 - 02/2009
2Oxygen (Dioxygen)IBA
02/2012 - 09/2005
2CholesterolIBA
12/2009 - 01/2003
2Uric Acid (Urate)IBA
12/2009 - 05/2008
2Glucose (Dextrose)FDA LinkGeneric
12/2009 - 01/2009
2Monophenol Monooxygenase (Tyrosinase)IBA
11/2009 - 12/2005
2glutathione S-transferase M1IBA
09/2007 - 02/2007
2Parathyroid Hormone (Parathormone)IBA
12/2006 - 12/2004
2alpha-Fetoproteins (alpha-Fetoprotein)IBA
04/2005 - 03/2003
1Urokinase Plasminogen Activator ReceptorsIBA
01/2018
1Immunoglobulins (Immunoglobulin)IBA
09/2016
1Immunoglobulin D (IgD)IBA
09/2016
1Mannitol (Osmitrol)FDA LinkGeneric
01/2016
1Lactulose (Duphalac)FDA LinkGeneric
01/2016
1Granulocyte-Macrophage Colony-Stimulating Factor (GM-CSF)IBA
06/2015
1Lactase-Phlorizin HydrolaseIBA
01/2015
1N 30IBA
08/2014
1Chemokine CCL26IBA
08/2014
1Chemokine CCL24IBA
08/2014
1Doxorubicin (Adriamycin)FDA LinkGeneric
10/2013
1AnthracyclinesIBA
10/2013
1LuteinIBA
09/2013
1DiureticsIBA
05/2013
1Calcium Channel Blockers (Blockers, Calcium Channel)IBA
05/2013
1Prednisone (Sone)FDA LinkGeneric
05/2013
1Aspirin (Acetylsalicylic Acid)FDA LinkGeneric
05/2013

Therapy/Procedure

4Thyroidectomy
01/2016 - 12/2004
3Renal Dialysis (Hemodialysis)
02/2012 - 02/2009
2Neck Dissection (Radical Neck Dissection)
01/2016 - 03/2014
2Therapeutics
11/2013 - 12/2005
2Ligation
07/2011 - 04/2009
1Stem Cell Transplantation
06/2017