Agnès Linglart Selected Research

Acrodysostosis

12/2018	Parathyroid hormone resistance syndromes - Inactivating PTH/PTHrP signaling disorders (iPPSDs).
11/2015	Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.
12/2012	PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.
6/2011	Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance.

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Agnès Linglart Research Topics

Disease

23	Pseudohypoparathyroidism 01/2022 - 01/2002
17	Familial Hypophosphatemic Rickets (X-Linked Hypophosphatemia) 01/2022 - 01/2013
11	Rickets (Rachitis) 01/2022 - 01/2017
9	Pain (Aches) 01/2022 - 03/2016
8	Hypophosphatemia 01/2022 - 10/2017
7	Obesity 06/2022 - 10/2008
7	Hypocalcemia 01/2022 - 02/2005
7	Hypophosphatasia 01/2022 - 11/2015
7	Congenital Abnormalities (Deformity) 01/2022 - 01/2018
6	Hyperphosphatemia 01/2022 - 02/2005
6	Rare Diseases (Rare Disease) 01/2022 - 03/2014
5	Osteomalacia 01/2022 - 01/2018
4	Overweight 06/2022 - 04/2010
4	Hypercalcemia (Milk Alkali Syndrome) 01/2021 - 12/2013
4	Hyperparathyroidism 01/2020 - 03/2014
4	Vitamin D Deficiency 11/2019 - 01/2016
4	Acrodysostosis 12/2018 - 06/2011
3	Hypogonadism (Hypergonadotropic Hypogonadism) 01/2020 - 10/2008
3	Neoplasms (Cancer) 01/2019 - 10/2008
3	Hypoparathyroidism 01/2018 - 11/2011
2	Cushing Syndrome 04/2022 - 10/2008
2	Failure to Thrive 01/2022 - 02/2019
2	Metabolic Diseases (Metabolic Disease) 10/2021 - 11/2020
2	Nephrocalcinosis 12/2020 - 01/2015
2	Hypercalciuria 12/2020 - 01/2015
2	Hypersensitivity (Allergy) 08/2020 - 04/2010
2	Seizures (Absence Seizure) 01/2020 - 01/2017
2	Hypothyroidism 01/2020 - 09/2007
2	Type 2 Diabetes Mellitus (MODY) 01/2020 - 01/2018
2	Enthesopathy 01/2019 - 03/2016
2	Chronic Renal Insufficiency 01/2016 - 07/2014
2	Autoimmune Polyendocrinopathies (Schmidt Syndrome) 03/2014 - 11/2011
2	Pseudohypoparathyroidism Type 1C 04/2010 - 01/2002
1	Wasting Syndrome (Wasting Disease) 01/2022
1	Parathyroid Diseases (Parathyroid Disorders) 01/2022
1	Calcinosis 01/2022
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2022
1	Musculoskeletal Diseases (Musculoskeletal Disease) 01/2022
1	Bone Diseases (Bone Disease) 10/2021
1	Type E Brachydactyly 02/2021
1	Giant Cell Tumors (Giant Cell Tumor) 01/2021
1	COVID-19 01/2021
1	Bone Cysts (Bone Cyst) 01/2021
1	Endocrine System Diseases (Endocrine Diseases) 01/2021
1	Pneumonia (Pneumonitis) 01/2021
1	Aneurysmal Bone Cysts 01/2021
1	Milk Hypersensitivity (Milk Allergy) 08/2020
1	Primary Hyperparathyroidism 01/2020
1	Brachydactyly 01/2020
1	Disease Progression 02/2019
1	Cerebrovascular Disorders (Cerebrovascular Occlusion) 01/2019
1	Osteoarthritis 01/2019
1	Hepatitis 12/2018

Drug/Important Bio-Agent (IBA)

24	Phosphates (Orthophosphate)IBA 01/2022 - 01/2013
18	Parathyroid Hormone (Parathormone)IBA 01/2022 - 02/2005
15	Vitamin D FDA LinkGeneric 01/2022 - 11/2011
14	CalciumIBA 01/2022 - 11/2011
8	Hormones (Hormone)IBA 01/2022 - 09/2007
7	Alkaline PhosphataseIBA 01/2022 - 01/2016
6	Fibroblast Growth Factor-23IBA 01/2022 - 01/2018
5	Parathyroid Hormone-Related ProteinIBA 01/2021 - 12/2016
5	Phosphorus (Red Phosphorus)IBA 01/2020 - 07/2014
4	MineralsIBA 01/2022 - 01/2017
4	burosumabIBA 01/2022 - 01/2018
4	Calcitriol (Calcijex)FDA LinkGeneric 01/2022 - 01/2020
4	GTP-Binding Proteins (G-Protein)IBA 11/2020 - 03/2008
4	N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA 11/2020 - 11/2015
3	Proteins (Proteins, Gene)FDA Link 02/2021 - 01/2002
3	Growth Hormone (Somatotropin)IBA 01/2020 - 06/2010
3	Calcium-Sensing ReceptorsIBA 01/2020 - 11/2011
3	Biological ProductsIBA 01/2016 - 01/2002
2	GlucocorticoidsIBA 04/2022 - 10/2008
2	Monoclonal AntibodiesIBA 01/2022 - 01/2018
2	hydroxide ionIBA 10/2021 - 11/2019
2	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 11/2020 - 09/2007
2	asfotase alfaIBA 11/2020 - 01/2017
2	5-phenylpent-4-enyl-1-hydroperoxideIBA 01/2018 - 04/2015
2	EnzymesIBA 01/2016 - 01/2015
2	Amino Acids FDA Link 11/2015 - 01/2002
2	G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA 01/2013 - 12/2012
2	Cyclic AMP-Dependent Protein Kinases (cAMP-Dependent Protein Kinase)IBA 12/2012 - 06/2011
2	Cyclic AMP (AMP, Cyclic)IBA 06/2011 - 02/2011
2	Insulin-Like Growth Factor I (IGF-1)IBA 06/2010 - 10/2008
1	fibroblast growth factor 21IBA 06/2022
1	Retroelements (Retrotransposon)IBA 01/2022
1	Ectopic HormonesIBA 02/2021
1	OsseusIBA 01/2021
1	Denosumab FDA Link 01/2021
1	AutoantibodiesIBA 01/2021
1	Cholecalciferol (Vitamin D3)FDA Link 12/2020
1	Calcitriol Receptors (Calcitriol Receptor)IBA 12/2020
1	Melanocyte-Stimulating Hormones (MSH)IBA 11/2020
1	ametantrone (HAQ)IBA 11/2020
1	Milk Proteins (Milk Protein)IBA 08/2020
1	PHEX Phosphate Regulating Neutral EndopeptidaseIBA 01/2020
1	Phosphoric Diester Hydrolases (Phosphodiesterases)IBA 12/2018

Therapy/Procedure

8	Therapeutics 01/2021 - 06/2010
1	Artificial Respiration (Mechanical Ventilation) 01/2021
1	Injections 01/2020
1	Orthopedic Procedures 02/2019