Feriştah Ferda ÖZKINAY

Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı Ve Hastalıkları Anabilim Dalı

Araştırma alanları: Sağlık Bilimleri, Tıp, Dahili Tıp Bilimleri, Tıbbi Genetik, Çocuk Sağlığı ve Hastalıkları, Temel Bilimler, Yaşam Bilimleri, Pediatrik Genetik ve Teratoloji, İç Hastalıkları, Temel Tıp Bilimleri

Yayınlar

• Transition from assigned sex at birth to individual gender identity in cases of differences of sex development (2025)
• Novel Missense Variant in the PAN2 Gene Associated With Congenital Anomalies and Neurodevelopmental Delay: Expanding the Phenotypic and Mutational Spectrum of PAN2‐Related Disorders (2025)
• CARD9 Mutations in Patients with Invasive Fungal Infections (2025)
• Genetic and clinical characterization of factor VII deficiency: insights from 34 Turkish patients (2025)
• Lipoprotein Lipase (LPL) Gene Mutation in a Girl With Diabetic Ketoacidosis, Acute Pancreatitis, and Hypertriglyceridemia (2025)
• Türk Popülasyonunda MMP2 ve MMP9 Değişimlerinin Spontan Abortus Etiyolojisindeki Rolü (2024)
• Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and Their Genotype-phenotype Correlation (2024)
• Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease (2024)
• Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome secondary to antimicrobial therapy in pediatric bone and joint infections (2024)
• Association of Helicobacter pylori-associated Duodenal Ulcer and Precancerous Findings with Toll-like Receptor-4 Asp299Gly and Toll-like Receptor-9 123T/C Polymorphism and Cag-A, Vac-A in Children (2024)
• Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application (2024)
• Kemik-Eklem Enfeksiyonlarının Tedavisi Sırasında Gelişen Eozinofili ve Sistemik Semptomların Eşlik Ettiği İlaç Reaksiyonunun (DRESS) Değerlendirilmesi (2023)
• Cardiac Assessment in Children with MIS-C: Late Magnetic Resonance Imaging Features (2023)
• Molecular diagnosis in patients with monogenic diabetes mellitus, and detection of a novel candidate gene (2023)
• Evaluation of post-COVID symptoms of the SARS-CoV-2 Delta and Omicron variants in children: a prospective study (2023)
• A Rare Cause of Orbital Cellulitis: Eikenella corrodens (2023)
• A Very Rare Pathogen of Osteomyelitis: Alcaligenes faecalis (2023)
• Electrocardiographic Changes in Hospitalized Children with COVID-19 (2023)
• Misdiagnosis of multisystem inflammatory syndrome in children: A diagnostic challenge (2023)
• Garre’s Osteomyelitis of the Jaw in a Child: Report of a Case Treated with Colchicine (2023)
• SARS-CoV-2 reinfections in the pediatric cohort—a single-center experience (2023)
• The longitudinal evaluation of COVID-19 in pediatric patients and the impact of delta variant (2023)
• Low HDL and Elevated Triglyceride-Glucose Index and HOMA-IR Associated with Multisystem Inflammatory Syndrome in Children (MIS-C) (2023)
• 415. Misdiagnosis of multisystem inflammatory syndrome in children: A diagnostic challenge (2023)
• The Role of Hematological Parameters in Children with COVID-19, MIS-C, and Other Viral Infections (2023)
• Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. (2022)
• Biallelic variants in ADAMTS15 cause a novel phenotype characterized by congenital contractures of the hands and feet with absent palmar creases (2022)
• Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis (2022)
• Evaluation of the Effect of Omicron Variant on Case Numbers in Children (2022)
• Çocuklarda Omicron BA.4 ve BA.5 Subvaryantları ile Epidemiyolojideki Değişim: 0-4 Yaş Grubu Vakalarda Artış (2022)
• SARS-CoV-2 DELTA VE OMICRON VARYANTININ BASKIN OLDUĞU DÖNEMLERDEKI ÇOCUKLARDA POST-COVID-19 SENDROMUN DEĞERLENDIRILMESI: PROSPEKTIF ÇALIŞMA (2022)
• The nine year experience of a tertiary care hospital from Turkey on invasive pneumococcal infections among hospitalized children in post-vaccine period (2022)
• Çocuklarda Komplike Olmuş Santral Sinir Sistemi Enfeksiyonları; Pandemi Döneminde Geç mi Tanı Konuyor ? (2022)
• Omicron Varyantının Çocuk Vaka Sayıları Üzerindeki Etkisinin Değerlendirilmesi (2022)
• Covid-19’a Sekonder Gelişen Bir Trombotik Mikroanjiyopati ve Böbrek Yetmezliği Olgusu (2022)
• COVID-19 Nedeni ile Hastanede Yatan Çocuklarda Saptanan Elektrokardiyografik Değişikliklerin Değerlendirilmesi (2022)
• DİSMOFRİK ÇOCUKTA TEMEL FİZİKSEL MUAYENE (2022)
• Prenatal Tanı (2022)
• Moleküler genetik tanı testleri (2022)
• Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium (2022)
• Clinical and laboratory findings of COVID-19 in children younger than six months old; Neutropenia is more common not lymphopenia (2022)
• Evaluation of vaccination status of health care workers for recommended vaccines and their acceptance of SARS-CoV-2 vaccines (2022)
• Quantitative Antibody Levels Against SARS-CoV-2 Spike Protein in COVID-19 and Multisystem Inflammatory Syndrome in Children (2022)
• Successful treatment of hepatic and mesh Aspergillosis in a neonate with giant omphalocele (2022)
• Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes (2022)
• Response to a letter to the editor regarding ‘ the comparison of seroconversion rates among different varicella vaccines administered Turkish children; MAV/06 and vOka’ (2022)
• Clinical and Laboratory Findings of SARS-CoV-2 Infection in Children Younger than 6 Months Old: Neutropenia is More Common Not Lymphopenia (2022)
• 2155. Evaluation of the Effect of Omicron Variant on Case Numbers in Children (2022)
• 290. Quantitative Antibody Levels Against SARS-CoV-2 Spike Protein in Children with COVID-19 and MIS-C (2022)
• The longitudinal evaluation of COVID-19 in pediatric patients and the impact of delta variant (2022)
• The first pediatric case of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) associated with Neisseria meningitidis (2022)
• 20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey (2021)
• Biallelic variants in ADAMTS15 cause a novel phenotype characterized by congenital contractures of the hands and feet with absent palmar creases (2021)
• The first reported case of Arboleda-Tham Syndrome from Turkey with a de novo mutation in KAT6A gene (2021)
• EVALUATION OF SHUNT INFECTIONS CAUSED BY GRAM-NEGATIVE BACTERIA IN CHILDREN (2021)
• A New Cause of Obesity Syndrome Associated with a Mutation in Carboxypeptidase (CPE) Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism (2021)
• SARS-CoV-2 seropositivity among pediatric health care personnel after the first peak of the pandemic: nationwide surveillance in Turkey (2021)
• COVID-19 İçin Genetik Yatkınlık ve Klinik Korelasyon (2021)
• Çocukluk Çağında Sık Görülen Kas Hastalıkları (2021)
• Çocukluk Çağında Sık Görülen Kas Hastalıkları (2021)
• Quality of Life and Psychological Well-being in Children and Adolescents with Disorders of Sex Development (2021)
• Molecular Genetic Diagnosis and Research of Candidate Genes by Targeted Next Generation Sequence Analysis and Whole Exome Sequencing Method in Monogenic Diabetes: MODY-TURK Project (2021)
• A Mortal Complication in a Case with Mucopolysaccharidosis Type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage (2021)
• Nosocomial Non-fermentative gram negative bacteria bloodstream infections in children; Risk factors and clinical outcomes of carbapenem resistance (2021)
• Multisystem Inflammatory Syndrome in Children Presenting With Pseudotumor Cerebri and a Review of the Literature (2021)
• The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum (2021)
• Cervical abscess caused by methicillin-susceptible Staphylococcus aureus in an infant infected with SARS-CoV-2: Diagnostic dilemma (2021)
• Epidemiological, Clinical, and Laboratory Features of Children With COVID-19 in Turkey (2021)
• 20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey (2021)
• Quality of Life and Psychological Well-being in Children and Adolescents with Disorders of Sex Development (2021)
• The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis (2021)
• A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes (2021)
• A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism (2021)
• Fatal Serogroup B Meningococcemia in a Child Previously Vaccinated With MenACWY-DT Vaccine. (2021)
• Crimean-Congo Hemorrhagic Fever Mimicking Multisystem Inflammatory Syndrome in Children Associated With COVID-19: A Diagnostic Challenge (2021)
• Demographic, clinical, and laboratory features of COVID-19 in children: The role of mean platelet volume in predicting hospitalization and severity (2021)
• SARS-CoV-2 seropositivity among pediatric health care personnel after the first peak of the pandemic: nationwide surveillance in Turkey (2021)
• Clinical Contribution of Next-Generation Sequencing Multigene Panel Testing for BRCA Negative High-Risk Patients With Breast Cancer (2021)
• Investigation of IL-12p40, IL-12Rß1, IFN?R1, IFN?R2 Gene Mutations In Childhood Tuberculosis Authors (2021)
• Clinical and Molecular Spectrum of Tuberous Sclerosis Complex Patients: Identification of Three Novel Mutations (2021)
• A Novel Molecular Indicator for Inhibitor Development in Haemophilia A (2021)
• Molecular Genetic Diagnosis and Research of Candidate Genes by Targeted Next Generation Sequence Analysis and Whole Exome Sequencing Method in Monogenic Diabetes: MODY-TURK Project (2021)
• The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis (2021)
• Does Mannose-Binding Lectin Gene Polymorphism in Pediatric Patients Undergoing Peritoneal Dialysis Cause Susceptibility to the Development of Peritonitis? (2021)
• Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations (2021)
• Mutation spectrum of the NF1 gene and genotype-phenotype correlations in Turkish patients: Seventeen novel pathogenic variants. (2021)
• The comparison of seroconversion rates among different varicella vaccines administered Turkish children; MAV/06 and vOka. (2021)
• A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes (2021)
• Clinical and molecular findings in children and young adults with persistent low alkaline phosphatase concentrations (2021)
• The Longest Infectious Virus Shedding in a Child Infected With the G614 Strain of SARS-CoV-2. (2021)
• What is the Role of Mannose-Binding Lectin Gene Polymorphism in the Development of Acute Post-Streptococcal Glomerulonephritis? (2021)
• The effects of IGF-1 and erythropoietin on apoptosis and telomerase activity in necrotizing enterocolitis model (2020)
• Çocuklarda Gram-Negatif Bakterilerin Neden Olduğu Şant Enfeksiyonlari (2020)
• Clinical and molecular aspects of PTEN mutations in 10 pediatric patients (2020)
• COVID-19 İçin Genetik Yatkınlık ve Klinik Korelasyon (2020)
• Genetik-Prenatal Tanı ve Genetik Danışma (2020)
• Aromatase deficiency in two siblings with 46, XX karyotype raised as different genders: A novel mutation (p.R115X) in CYP19A1 gene (2020)
• Psychiatric view for disorders of sex development: a 12-year experience of a multidisciplinary team in a university hospital (2020)
• Psychiatric view for disorders of sex development: a 12-year experience of a multidisciplinary team in a university hospital (2020)
• VON WİLLEBRAND HASTALIĞI’NDA VWF GENİ MUTASYON SPEKTRUMU. (2020)

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