Ferda Özkınay 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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Ferda Özkınay Research Topics

Disease

2	Gonadal Dysgenesis (Gonadal Agenesis) 03/2021 - 05/2020
2	Intellectual Disability (Idiocy) 01/2021 - 05/2020
2	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal) 05/2020 - 01/2020
2	Hemophilia A (Haemophilia) 01/2020 - 01/2018
2	Hemorrhage 01/2020 - 01/2018
1	Rubella (German Measles) 11/2022
1	Diphtheria 11/2022
1	Human Influenza (Influenza) 11/2022
1	Measles 11/2022
1	Tetanus 11/2022
1	Chickenpox 11/2022
1	Mumps 11/2022
1	COVID-19 12/2021
1	Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 03/2021
1	Morbid Obesity 01/2021
1	Obesity 01/2021
1	Hypogonadism (Hypergonadotropic Hypogonadism) 01/2021
1	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 05/2020
1	Hirsutism 01/2020
1	Acne Vulgaris 01/2020
1	Disorders of Sex Development (Intersexuality) 01/2020
1	Disease Progression 01/2019
1	Type 2 Maturity-Onset Diabetes of the Young 01/2018
1	Type 2 Diabetes Mellitus (MODY) 01/2018
1	Schizophrenia (Dementia Praecox) 01/2018
1	Down Syndrome (Down's Syndrome) 01/2018
1	Gaucher Disease (Gaucher's Disease) 01/2018
1	Psychotic Disorders (Schizoaffective Disorder) 01/2018
1	Acrocephalosyndactylia (Apert Syndrome) 12/2017
1	Prostatic Neoplasms (Prostate Cancer) 10/2017
1	Persistent Mullerian duct syndrome 06/2017
1	Thalassemia 07/2015
1	Hemoglobinopathies 07/2015
1	Infections 01/2015
1	Infertility (Sterility) 01/2015
1	Chorioamnionitis 01/2015
1	Pre-Eclampsia (Preeclampsia) 01/2015
1	Rupture 01/2015
1	Habitual Abortion (Recurrent Miscarriage) 01/2015
1	Urinary Tract Infections (Urinary Tract Infection) 01/2015
1	Vaginitis 01/2015
1	Gestational Diabetes (Gestational Diabetes Mellitus) 01/2015
1	Demyelinating Diseases (Demyelinating Disease) 09/2014
1	Neurodegenerative Diseases (Neurodegenerative Disease) 09/2014
1	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 09/2014
1	Precursor Cell Lymphoblastic Leukemia-Lymphoma (Acute Lymphoblastic Leukemia) 12/2010

Drug/Important Bio-Agent (IBA)

2	Aromatase deficiencyIBA 03/2021 - 01/2020
2	AndrogensIBA 05/2020 - 01/2020
2	Factor VIII (Coagulation Factor VIII)IBA 01/2020 - 01/2018
1	COVID-19 VaccinesIBA 11/2022
1	Nucleic AcidsIBA 12/2021
1	Mixed Function Oxygenases (Monooxygenases)IBA 03/2021
1	Glucose (Dextrose)FDA LinkGeneric 01/2021
1	Nonsense Codon (Nonsense Mutation)IBA 01/2021
1	CarboxypeptidasesIBA 01/2021
1	GlucokinaseIBA 01/2018
1	Brain-Derived Neurotrophic Factor (BDNF)IBA 01/2018
1	Catechol O-Methyltransferase (Methyltransferase, Catechol)IBA 01/2018
1	MicroRNAs (MicroRNA)IBA 01/2018
1	Glucosylceramidase (Glucocerebrosidase)IBA 01/2018
1	EnzymesIBA 01/2018
1	Type 2 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 2)IBA 12/2017
1	Biomarkers (Surrogate Marker)IBA 10/2017
1	Hormones (Hormone)IBA 06/2017
1	anti-Mullerian hormone receptorIBA 06/2017
1	Abnormal HemoglobinsIBA 07/2015
1	Hemoglobins (Hemoglobin)IBA 07/2015
1	beta-Globins (beta Globin)IBA 07/2015
1	Interleukin-6 (Interleukin 6)IBA 01/2015
1	Codon (Codons)IBA 01/2015
1	Fatty Acids (Saturated Fatty Acids)IBA 09/2014
1	Pharmaceutical PreparationsIBA 12/2010

Therapy/Procedure

1	Personal Protective Equipment 12/2021
1	Enzyme Replacement Therapy 01/2019
1	Tocolysis 01/2015
1	Therapeutics 12/2010