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Betty Gardie Selected Research

primary familial and congenital Polycythemia

1/2014Genetic basis of congenital erythrocytosis: mutation update and online databases.
1/2012Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia.
12/2008PHD2 mutation and congenital erythrocytosis with paraganglioma.

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Betty Gardie Research Topics

Disease

11Neoplasms (Cancer)
11/2021 - 03/2002
10Hypoxia (Hypoxemia)
12/2022 - 07/2007
5Polycythemia (Erythrocytosis)
12/2022 - 07/2008
4Renal Cell Carcinoma (Grawitz Tumor)
12/2015 - 07/2007
3primary familial and congenital Polycythemia
01/2014 - 12/2008
2Kidney Neoplasms (Kidney Cancer)
01/2020 - 10/2011
2von Hippel-Lindau Disease (von Hippel Lindau Disease)
10/2018 - 11/2014
2Neuroendocrine Tumors (Neuroendocrine Tumor)
02/2013 - 07/2007
2Carcinogenesis
10/2011 - 03/2002
1Angiomyolipoma
11/2021
1Intellectual Disability (Idiocy)
01/2019
1Cataract (Cataracts)
01/2019
1Alopecia (Baldness)
01/2019
1Leiomyomatosis
12/2015
1Inflammation (Inflammations)
01/2015
1Extra-Adrenal Paraganglioma (Paraganglioma, Extra Adrenal)
01/2012
1Melanoma (Melanoma, Malignant)
10/2011
1Hereditary leiomyomatosis and renal cell cancer
06/2010

Drug/Important Bio-Agent (IBA)

6Oxygen (Dioxygen)IBA
12/2022 - 07/2007
4ErythropoietinFDA Link
01/2018 - 01/2012
4Proteins (Proteins, Gene)FDA Link
11/2014 - 12/2008
3Fumarate Hydratase (Fumarase)IBA
12/2015 - 06/2010
3Prolyl Hydroxylases (Prolyl Hydroxylase)IBA
01/2014 - 12/2008
2Hemoglobins (Hemoglobin)IBA
12/2022 - 01/2014
2DNA (Deoxyribonucleic Acid)IBA
11/2021 - 01/2012
2Proteasome Endopeptidase Complex (Proteasome)IBA
02/2013 - 07/2007
2Retinaldehyde (Retinal)IBA
02/2013 - 07/2007
1beta-Globins (beta Globin)IBA
12/2022
1Glycated Hemoglobin (Glycosylated Hemoglobin)IBA
12/2022
1Voltage-Dependent Anion ChannelsIBA
01/2020
1CholesterolIBA
01/2019
1lanosterol synthaseIBA
01/2019
1MicroRNAs (MicroRNA)IBA
10/2018
1Messenger RNA (mRNA)IBA
10/2018
1Mixed Function Oxygenases (Monooxygenases)IBA
01/2017
1CytokinesIBA
01/2015
1Janus Kinase InhibitorsIBA
01/2015
1EnzymesIBA
01/2014
1IronIBA
01/2014
1Ketoglutaric Acids (Ketoglutaric Acid)IBA
01/2014
1OxygenasesIBA
01/2014
1Transcription Factors (Transcription Factor)IBA
01/2014
12,3-Diphosphoglycerate (2,3 Bisphosphoglycerate)IBA
01/2014
1Proliferating Cell Nuclear Antigen (PCNA)IBA
05/2013
1Arginine (L-Arginine)FDA Link
01/2012
1Mutant Proteins (Protein, Mutant)IBA
10/2011
1Microphthalmia-Associated Transcription FactorIBA
10/2011
1AntioxidantsIBA
10/2011
1Erythropoietin Receptors (Erythropoietin Receptor)IBA
07/2008
1Cyclin-Dependent Kinase Inhibitor p16IBA
03/2002

Therapy/Procedure

2Therapeutics
01/2017 - 12/2015