Damla Gökşen Selected Research

Aromatase deficiency

3/2021	A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes.
1/2020	Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene

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Damla Gökşen Research Topics

Disease

8	Type 1 Diabetes Mellitus (Autoimmune Diabetes) 09/2022 - 09/2013
4	Obesity 01/2021 - 05/2015
3	Intellectual Disability (Idiocy) 01/2021 - 05/2015
2	Gonadal Dysgenesis (Gonadal Agenesis) 03/2021 - 05/2020
2	Diabetes Mellitus 12/2020 - 06/2002
2	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal) 05/2020 - 01/2020
2	Congenital Abnormalities (Deformity) 01/2020 - 04/2006
2	Hypoglycemia (Reactive Hypoglycemia) 01/2019 - 05/2015
2	Insulin Resistance 01/2016 - 03/2015
1	Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 03/2021
1	Morbid Obesity 01/2021
1	Hypogonadism (Hypergonadotropic Hypogonadism) 01/2021
1	Prader-Willi Syndrome (Syndrome, Prader-Willi) 01/2021
1	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 05/2020
1	Hypophosphatemic Rickets 01/2020
1	Acne Vulgaris 01/2020
1	Edema (Dropsy) 01/2020
1	Hirsutism 01/2020
1	Familial Hypophosphatemia (Phosphate Diabetes) 01/2020
1	Hypotension (Low Blood Pressure) 01/2020
1	Disorders of Sex Development (Intersexuality) 01/2020
1	Tachycardia (Tachyarrhythmias) 01/2020
1	Diabetic Ketoacidosis (Ketoacidosis, Diabetic) 01/2020
1	Type 2 Diabetes Mellitus (MODY) 01/2018
1	Type 2 Maturity-Onset Diabetes of the Young 01/2018
1	Persistent Mullerian duct syndrome 06/2017
1	Papillary Carcinoma 01/2016
1	Polycystic Ovary Syndrome (Syndrome, Stein-Leventhal) 01/2016
1	Adrenal Insufficiency (Adrenal Gland Hypofunction) 05/2015
1	Weight Gain 05/2015
1	Ataxia (Dyssynergia) 05/2015
1	Parathyroid Neoplasms (Parathyroid Neoplasm) 09/2014
1	Hyperplasia 09/2014
1	Atherosclerosis 09/2013
1	Cardiovascular Diseases (Cardiovascular Disease) 09/2013
1	Bone Fractures (Bone Fracture) 04/2006
1	Osteogenesis Imperfecta (Lobstein Disease) 04/2006
1	Bone Resorption 04/2006
1	Primary Hyperparathyroidism 07/2003
1	type 1 familial Hypocalciuric hypercalcemia 07/2003
1	Hypercalcemia (Milk Alkali Syndrome) 07/2003
1	Hyperparathyroidism 07/2003
1	Vascular Diseases (Vascular Disease) 01/2002

Drug/Important Bio-Agent (IBA)

7	Insulin (Novolin)FDA Link 09/2022 - 06/2002
3	Glucose (Dextrose)FDA LinkGeneric 01/2021 - 03/2015
2	Aromatase deficiencyIBA 03/2021 - 01/2020
2	AndrogensIBA 05/2020 - 01/2020
2	Indicators and Reagents (Reagents)IBA 01/2016 - 01/2002
2	Pamidronate (Aredia)FDA LinkGeneric 04/2006 - 07/2003
1	Mixed Function Oxygenases (Monooxygenases)IBA 03/2021
1	CarboxypeptidasesIBA 01/2021
1	Growth Hormone (Somatotropin)IBA 01/2021
1	Nonsense Codon (Nonsense Mutation)IBA 01/2021
1	Glycated Hemoglobin (Glycosylated Hemoglobin)IBA 12/2020
1	Type 4 Melanocortin Receptor (Melanocortin-4 Receptor)IBA 09/2020
1	Fibroblast Growth Factor-23IBA 01/2020
1	AlbuminsIBA 01/2020
1	Blood Glucose (Blood Sugar)IBA 01/2020
1	Calcitriol (Calcijex)FDA LinkGeneric 01/2020
1	Hemoglobins (Hemoglobin)IBA 01/2020
1	Phosphates (Orthophosphate)IBA 01/2020
1	Urea (Carbamide)FDA LinkGeneric 01/2020
1	GlucokinaseIBA 01/2018
1	anti-Mullerian hormone receptorIBA 06/2017
1	Hormones (Hormone)IBA 06/2017
1	Anti-Mullerian HormoneIBA 01/2016
1	Pro-Opiomelanocortin (Proopiomelanocortin)IBA 05/2015
1	LipidsIBA 05/2015
1	Lactic Acid (Lactate)FDA LinkGeneric 05/2015
1	Protons (Proton)IBA 05/2015
1	CarbohydratesIBA 01/2014
1	C-Reactive ProteinIBA 09/2013
1	Biomarkers (Surrogate Marker)IBA 09/2013
1	AdiponectinIBA 09/2013
1	Diphosphonates (Bisphosphonates)IBA 04/2006
1	Vitamin D FDA LinkGeneric 07/2003
1	Calcium-Sensing ReceptorsIBA 07/2003
1	Calcitonin (Calcitonin, Eel)FDA LinkGeneric 07/2003
1	Parathyroid Hormone (Parathormone)IBA 07/2003
1	Carnitine (L-Carnitine)FDA LinkGeneric 06/2002
1	Fatty Acids (Saturated Fatty Acids)IBA 06/2002

Therapy/Procedure

6	Therapeutics 01/2020 - 07/2003
2	Parathyroidectomy 09/2014 - 07/2003
1	Infusion Pumps (Infusion Pump) 01/2018
1	Injections 10/2016
1	Thyroidectomy 01/2016
1	Glycemic Control 01/2014
1	Intravenous Infusions 04/2006