Isabel Dinis Selected Research

Aggrecan Type Spondyloepimetaphyseal Dysplasia

1/2018

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.

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Isabel Dinis Research Topics

Disease

1	Type 1 Diabetes Mellitus (Autoimmune Diabetes) 07/2022
1	Hyperphosphatemia 12/2021
1	Hypoparathyroidism 12/2021
1	Hypocalcemia 12/2021
1	Graves Disease (Basedow Disease) 07/2020
1	Mason-Type Diabetes 01/2020
1	Type 2 Diabetes Mellitus (MODY) 01/2020
1	Communicable Diseases (Infectious Diseases) 07/2019
1	Hypoglycemia (Reactive Hypoglycemia) 07/2019
1	Adrenal Insufficiency (Adrenal Gland Hypofunction) 07/2019
1	Nausea 07/2019
1	Vomiting 07/2019
1	Hypoaldosteronism (Hyporeninemic Hypoaldosteronism) 02/2019
1	Hyponatremia 02/2019
1	Wasting Syndrome (Wasting Disease) 02/2019
1	Aggrecan Type Spondyloepimetaphyseal Dysplasia 01/2018
1	Brachydactyly 01/2018
1	Kimberley Type Spondyloepiphyseal Dysplasia 01/2018
1	Osteochondritis Dissecans 01/2018
1	Limbic Encephalitis (Paraneoplastic Limbic Encephalitis) 08/2016
1	Hyperthyroidism 01/2016
1	Obesity 01/2010
1	Insulin Resistance 01/2010

Drug/Important Bio-Agent (IBA)

1	Insulin Aspart (NovoLog)FDA Link 07/2022
1	Parathyroid Hormone (Parathormone)IBA 12/2021
1	Calcium-Sensing ReceptorsIBA 12/2021
1	Thyrotropin Receptors (Thyrotropin Receptor)IBA 07/2020
1	AntibodiesIBA 07/2020
1	AutoantibodiesIBA 07/2020
1	Insulin (Novolin)FDA Link 01/2020
1	MineralocorticoidsIBA 07/2019
1	GlucocorticoidsIBA 07/2019
1	Hydrocortisone (Cortisol)FDA LinkGeneric 07/2019
1	AldosteroneIBA 02/2019
1	ReninIBA 02/2019
1	SaltsIBA 02/2019
1	Cytochrome P-450 CYP11B2 (CYP11B2)IBA 02/2019
1	Aggrecans (Aggrecan)IBA 01/2018
1	Glutamate Decarboxylase (Decarboxylase, Glutamate)IBA 08/2016
1	Antithyroid Agents (Antithyroid Drugs)IBA 01/2016
1	Thyroxine (Levothyroxine)FDA LinkGeneric 01/2016
1	Hormones (Hormone)IBA 01/2010
1	LeptinIBA 01/2010

Therapy/Procedure

1	Glycemic Control 07/2022
1	Therapeutics 12/2021