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Chantal Thys Selected Research

Pseudopseudohypoparathyroidism

4/2012No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.
1/2012Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.
12/2008Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state.
12/2008GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets.

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Chantal Thys Research Topics

Disease

8Thrombocytopenia (Thrombopenia)
12/2019 - 03/2004
8Hemorrhage
05/2019 - 05/2003
4Pseudopseudohypoparathyroidism
04/2012 - 12/2008
4Pseudohypoparathyroidism
01/2012 - 10/2002
2Autism Spectrum Disorder
01/2021 - 01/2015
2Primary Myelofibrosis (Myelosclerosis)
01/2019 - 03/2016
2Thrombosis (Thrombus)
06/2006 - 03/2004
1Neurodevelopmental Disorders
05/2019
1Erythrokeratodermia Variabilis
01/2019
1Roifman syndrome
01/2018
1Neoplasms (Cancer)
03/2016
1Genetic Translocation (Chromosomal Translocation)
01/2015
1Alternating hemiplegia of childhood
06/2013
1Lysosomal Storage Diseases (Lysosomal Storage Disease)
01/2013
1Progressive Osseous Heteroplasia
01/2012
1Platelet Storage Pool Deficiency
05/2011
1Morbid Obesity
12/2008
1Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
12/2007
1Bernard-Soulier Syndrome (Giant Platelet Syndrome)
12/2007
1Intellectual Disability (Idiocy)
03/2004
1Trisomy (Trisomies)
03/2004
1Wounds and Injuries (Trauma)
05/2003
1Brachydactyly
05/2003
1Hypocalcemia
10/2002
1Hyperphosphatemia
10/2002
1Anemia
01/2002

Drug/Important Bio-Agent (IBA)

3Hormones (Hormone)IBA
04/2012 - 12/2008
35-phenylpent-4-enyl-1-hydroperoxideIBA
04/2012 - 12/2008
2Serotonin (5 Hydroxytryptamine)IBA
05/2019 - 01/2015
2src-Family KinasesIBA
01/2019 - 03/2016
2Parathyroid Hormone (Parathormone)IBA
01/2012 - 10/2002
2CollagenIBA
05/2011 - 02/2008
2Pituitary Adenylate Cyclase-Activating Polypeptide (PACAP)IBA
02/2008 - 03/2004
1Brain-Derived Neurotrophic Factor (BDNF)IBA
01/2021
1Transcription Factors (Transcription Factor)IBA
12/2019
1Proteins (Proteins, Gene)FDA Link
05/2019
1Vesicular Monoamine Transport Proteins (Vesicular Monoamine Transporter)IBA
05/2019
1EnzymesIBA
01/2019
1SphingolipidsIBA
01/2019
1Oxidoreductases (Dehydrogenase)IBA
01/2019
1RNA (Ribonucleic Acid)IBA
01/2018
1Small Nuclear RNA (snRNA)IBA
01/2018
1TubulinIBA
01/2018
1Pharmaceutical PreparationsIBA
03/2016
1Biomarkers (Surrogate Marker)IBA
01/2015
1CathepsinsIBA
06/2013
1CholesterolIBA
01/2013
1MorpholinosIBA
05/2012
1Epinephrine (Adrenaline)FDA LinkGeneric
05/2011
1Adenosine Diphosphate (ADP)IBA
05/2011
1AutoantibodiesIBA
03/2010
1Thyrotropin (Thyroid-Stimulating Hormone)FDA Link
12/2008
1AntibodiesIBA
02/2008
1Epoprostenol (Prostacyclin)FDA LinkGeneric
02/2008
1Type C PhospholipasesIBA
12/2007
1GTP-Binding Proteins (G-Protein)IBA
12/2007
1Hemostatics (Antihemorrhagics)IBA
03/2004
1Messenger RNA (mRNA)IBA
03/2004
1NucleotidesIBA
05/2003
1GATA1 Transcription FactorIBA
01/2002

Therapy/Procedure

1Therapeutics
02/2008
1Secondary Prevention
06/2006