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Anya Rothenbuhler Selected Research

Type E Brachydactyly

2/2021Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients.

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Anya Rothenbuhler Research Topics

Disease

7Familial Hypophosphatemic Rickets (X-Linked Hypophosphatemia)
10/2021 - 01/2017
6Obesity
06/2022 - 02/2014
6Pseudohypoparathyroidism
02/2021 - 01/2017
4Rare Diseases (Rare Disease)
01/2022 - 01/2019
4Rickets (Rachitis)
08/2021 - 01/2017
2Overweight
06/2022 - 01/2018
2Hypophosphatasia
01/2022 - 01/2021
2Pain (Aches)
01/2022 - 03/2016
2Hypophosphatemia
10/2021 - 01/2019
2Hypogonadism (Hypergonadotropic Hypogonadism)
01/2020 - 01/2018
2Type 2 Diabetes Mellitus (MODY)
01/2020 - 01/2018
2Vitamin D Deficiency
11/2019 - 01/2017
2Hypoparathyroidism
01/2018 - 11/2011
2Adenoma (Adenomas)
02/2014 - 01/2010
2Cushing Syndrome
02/2014 - 01/2010
1Failure to Thrive
01/2022
1Inborn Genetic Diseases (Disease, Hereditary)
01/2022
1Bone Diseases (Bone Disease)
10/2021
1Metabolic Diseases (Metabolic Disease)
10/2021
1Type E Brachydactyly
02/2021
1COVID-19
01/2021
1Pneumonia (Pneumonitis)
01/2021
1Hyperparathyroidism
01/2020
1Hypothyroidism
01/2020
1Seizures (Absence Seizure)
01/2020
1Brachydactyly
01/2020
1Osteomalacia
01/2019
1Adrenal Insufficiency (Adrenal Gland Hypofunction)
12/2018
1Pituitary ACTH Hypersecretion
12/2018
1Hepatitis
12/2018
1Pituitary Neoplasms (Pituitary Adenoma)
12/2018
1Weight Gain
01/2018
1Congenital Abnormalities (Deformity)
01/2018
1Hypertension (High Blood Pressure)
01/2018
1Glucose Intolerance
01/2018
1Chronic Renal Insufficiency
11/2017
1Hyperphosphatemia
01/2017
1Rett Syndrome (Rett's Disorder)
01/2017
1Bone Fractures (Bone Fracture)
01/2017
1Enthesopathy
03/2016
1Abscess
01/2014
1Autoimmune Polyendocrinopathies (Schmidt Syndrome)
11/2011
1Prostatic Neoplasms (Prostate Cancer)
01/2011
1Cerebral Palsy (Spastic Diplegia)
08/2010
1Osteoporosis
08/2010
1Hypocalcemia
08/2010
1Adrenocortical Adenoma (Disease, Conn's)
01/2010
1Hyperplasia
01/2010

Drug/Important Bio-Agent (IBA)

11Phosphates (Orthophosphate)IBA
01/2022 - 01/2014
8Parathyroid Hormone (Parathormone)IBA
11/2020 - 01/2017
6CalciumIBA
01/2022 - 11/2011
6Vitamin DFDA LinkGeneric
01/2020 - 11/2011
3Alkaline PhosphataseIBA
01/2022 - 01/2017
2burosumabIBA
10/2021 - 08/2021
2Parathyroid Hormone-Related ProteinIBA
11/2020 - 01/2017
2Growth Hormone (Somatotropin)IBA
01/2020 - 01/2018
1fibroblast growth factor 21IBA
06/2022
1Proteins (Proteins, Gene)FDA Link
02/2021
1Ectopic HormonesIBA
02/2021
1AutoantibodiesIBA
01/2021
1N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA
01/2021
1Melanocyte-Stimulating Hormones (MSH)IBA
11/2020
1GTP-Binding Proteins (G-Protein)IBA
11/2020
1Hormones (Hormone)IBA
11/2020
1Thyrotropin (Thyroid-Stimulating Hormone)FDA Link
11/2020
1hydroxide ionIBA
11/2019
1Dichlorodiphenyldichloroethane (DDD)IBA
12/2018
1Mitotane (Lysodren)FDA Link
12/2018
15-phenylpent-4-enyl-1-hydroperoxideIBA
01/2018
1Human Growth Hormone (Saizen)FDA LinkGeneric
10/2017
1Diphosphonates (Bisphosphonates)IBA
01/2017
1MineralsIBA
01/2017
1Biomarkers (Surrogate Marker)IBA
01/2017
1Cyclic AMP (AMP, Cyclic)IBA
02/2014
1AldosteroneIBA
02/2014
1Calcium-Sensing ReceptorsIBA
11/2011
1Phosphoric Diester Hydrolases (Phosphodiesterases)IBA
01/2011
1Pamidronate (Aredia)FDA LinkGeneric
08/2010
1Adrenocorticotropic Hormone (ACTH)FDA Link
01/2010
1Messenger RNA (mRNA)IBA
01/2010
1Hydrocortisone (Cortisol)FDA LinkGeneric
01/2010
1Steroid 21-Hydroxylase (21 Hydroxylase)IBA
01/2010
1Dexamethasone (Maxidex)FDA LinkGeneric
01/2010
1Steroid 11-beta-Hydroxylase (11 beta-Hydroxylase)IBA
01/2010

Therapy/Procedure

3Therapeutics
12/2018 - 11/2011
1Artificial Respiration (Mechanical Ventilation)
01/2021
1Adrenalectomy
02/2014
1Oral Hygiene (Dental Hygiene)
01/2014