Valérie Cormier-Daire Selected Research

Acrodysostosis

1/2021	Sleep-disordered breathing and its management in children with rare skeletal dysplasias.
11/2018	Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.
4/2012	Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

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Valérie Cormier-Daire Research Topics

Disease

6	Intellectual Disability (Idiocy) 10/2022 - 02/2009
5	Acromicric dysplasia 11/2022 - 09/2008
4	Ciliopathies 10/2015 - 06/2011
3	Achondroplasia 01/2022 - 12/2006
3	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2021 - 12/2014
3	Acrodysostosis 01/2021 - 04/2012
3	Catel Manzke syndrome 01/2020 - 09/2012
3	Brachydactyly 11/2018 - 11/2004
3	Hypoglycemia (Reactive Hypoglycemia) 09/2007 - 08/2002
2	Joint Dislocations 07/2022 - 09/2012
2	Neurodevelopmental Disorders 04/2021 - 01/2020
2	Infections 01/2021 - 04/2005
2	Hypoventilation 01/2021 - 01/2020
2	Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome) 01/2020 - 01/2010
2	Hypophosphatasia 01/2020 - 11/2015
2	Loeys-Dietz Syndrome 11/2019 - 11/2008
2	Desbuquois syndrome 01/2019 - 09/2012
2	Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 01/2019 - 10/2005
2	Epilepsy (Aura) 06/2018 - 12/2014
2	Nephrotic Syndrome (Syndrome, Nephrotic) 12/2017 - 04/2005
2	Pericarditis 12/2017 - 10/2013
2	Dwarfism 12/2014 - 02/2009
2	Liver Diseases (Liver Disease) 02/2013 - 01/2006
2	Marfan Syndrome (Marfan's Syndrome) 07/2011 - 11/2008
2	Osteopetrosis 03/2005 - 02/2003
1	Cardiovascular Diseases (Cardiovascular Disease) 11/2022
1	Amelogenesis Imperfecta 07/2022
1	Rare Diseases (Rare Disease) 10/2021
1	Metatropic dwarfism 01/2021
1	congenita Spondyloepiphyseal dysplasia 01/2021
1	Hypoxia (Hypoxemia) 01/2021
1	Eczema 01/2021
1	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome) 01/2021
1	Obstructive Sleep Apnea 01/2021
1	Congenital Disorders of Glycosylation 11/2020
1	Dentinogenesis Imperfecta 01/2020
1	Mucopolysaccharidosis IV (Morquio Syndrome) 01/2020
1	Meningioma (Meningiomas) 01/2020
1	Pseudarthrosis (Pseudoarthrosis) 01/2020
1	Juvenile osteoporosis 01/2020
1	Autoimmune Diseases (Autoimmune Disease) 01/2020
1	Chronic Mucocutaneous Candidiasis 11/2019
1	sponastrime type Spondyloepimetaphyseal dysplasia 01/2019
1	Strudwick syndrome 01/2019
1	Chromosome Aberrations (Chromosome Abnormalities) 01/2019
1	Dysostoses 11/2018
1	Congenital Abnormalities (Deformity) 01/2018
1	Hypoalbuminemia 12/2017
1	Ascites 12/2017
1	Disease Progression 12/2017
1	Portal Hypertension 12/2017
1	Liver Failure 12/2017
1	Hydrops Fetalis (Fetal Edema) 12/2017
1	Protein-Losing Enteropathies (Protein-Losing Enteropathy) 12/2017
1	Cardiomyopathies (Cardiomyopathy) 12/2017

Drug/Important Bio-Agent (IBA)

8	Proteins (Proteins, Gene)FDA Link 10/2022 - 02/2009
3	Fibrillin-1IBA 11/2022 - 07/2011
3	Transforming Growth Factor-beta Type II ReceptorIBA 11/2019 - 07/2008
3	DisintegrinsIBA 01/2019 - 09/2008
3	Metalloproteases (Metalloproteinases)IBA 01/2019 - 09/2008
2	Proteoglycans (Proteoglycan)IBA 10/2022 - 10/2021
2	EnzymesIBA 01/2020 - 08/2003
2	Diphosphonates (Bisphosphonates)IBA 01/2020 - 01/2020
2	Pharmaceutical PreparationsIBA 01/2020 - 06/2018
2	Biological ProductsIBA 01/2020 - 07/2012
2	AcidsIBA 01/2020 - 02/2009
2	nucleotidaseIBA 01/2019 - 09/2012
2	CalciumIBA 01/2019 - 09/2012
2	DNA (Deoxyribonucleic Acid)IBA 01/2019 - 01/2007
2	ThrombospondinsIBA 01/2019 - 09/2008
2	Hormones (Hormone)IBA 11/2018 - 04/2012
2	Nonsense Codon (Nonsense Mutation)IBA 01/2018 - 08/2010
2	Congenital disorder of glycosylation type 1AIBA 12/2017 - 12/2014
2	phosphomannomutaseIBA 12/2017 - 12/2014
2	OSM-LIF ReceptorsIBA 01/2010 - 02/2004
2	Transforming Growth Factor-beta Type I ReceptorIBA 11/2008 - 07/2008
2	Chloride Channels (Chloride Channel)IBA 03/2005 - 02/2003
1	GlycosaminoglycansIBA 07/2022
1	vosoritideIBA 01/2022
1	Biomarkers (Surrogate Marker)IBA 04/2021
1	beta-apocarotenoid-14',13'-dioxygenase (ADO)IBA 01/2021
1	Immunoglobulin E (IgE)IBA 01/2021
1	PhosphoglucomutaseIBA 01/2021
1	Protein Isoforms (Isoforms)IBA 11/2020
1	Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA 01/2020
1	Fragile X Mental Retardation ProteinIBA 01/2020
1	Cytokine Receptor gp130IBA 01/2020
1	ChromatinIBA 01/2020
1	NAD (NADH)IBA 01/2020
1	Factor VII (Proconvertin)IBA 01/2020
1	beta-cyclodextrin tetradecasulfate (CTDS)IBA 11/2019
1	Uridine Diphosphate (UDP)IBA 01/2019
1	2- cyclohexylidenhydrazo- 4- phenyl- thiazoleIBA 01/2019
1	CamptothecinIBA 01/2019
1	Ethylnitrosourea (N-Ethyl-N-nitrosourea)IBA 01/2018
1	Transaminases (Aminotransferases)IBA 12/2017

Therapy/Procedure

2	Continuous Positive Airway Pressure 01/2021 - 01/2020
2	Therapeutics 01/2020 - 09/2007
1	Noninvasive Ventilation 01/2021
1	Nutritional Support (Artificial Feeding) 12/2017