Works matching AU Özkınay, Ferda

Results: 72

Molecular spectrum of α-globin gene mutations in the Aegean region of Turkey: first observation of three α-globin gene mutations in the Turkish population.

Published in:

2015

By:

Onay, Hüseyin;
Aykut, Ayça;
Karaca, Emin;
Durmaz, Asude;
Solmaz, Aslı;
Çoğulu, Özgür;
Aydınok, Yeşim;
Vergin, Canan;
Özkınay, Ferda;
Onay, Hüseyin;
Aykut, Ayça;
Solmaz, Aslı Ece;
Çoğulu, Özgür;
Aydınok, Yeşim;
Özkınay, Ferda

Publication type:

journal article

A Novel Molecular Indicator for Inhibitor Development in Haemophilia A.

Published in:

Journal of Pediatric Research, 2021, v. 8, n. 2, p. 102, doi. 10.4274/jpr.galenos.2020.59354

By:

Işık, Esra;
Mehdiyeva, Humay;
Akgün, Bilçağ;
Köse, Timur;
Kavaklı, Kaan;
Özkınay, Ferda;
Atik, Tahir

Publication type:

Article

Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings.

Published in:

Journal of Pediatric Research, 2020, v. 7, n. 4, p. 267, doi. 10.4274/jpr.galenos.2019.38278

By:

Işık, Esra;
Akgün, Bilcağ;
Atik, Tahir;
Özkınay, Ferda;
Çoğulu, Özgür

Publication type:

Article

Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings.

Published in:

Journal of Pediatric Research, 2020, v. 7, n. 4, p. 267, doi. 10.4274/jpr.galenos.2019.38278

By:

Işık, Esra;
Akgün, Bilcağ;
Atik, Tahir;
Özkınay, Ferda;
Çoğulu, Özgür

Publication type:

Article

Clinical Features of COVID-19 in Children.

Published in:

Journal of Pediatric Research, 2020, v. 7, n. 2, p. 88, doi. 10.4274/jpr.galenos.2020.60437

By:

Bal, Zümrüt Şahbudak;
Kurugöl, Zafer;
Özkınay, Ferda

Publication type:

Article

The Effect of Exercise on Bone Mineral Density in Patients with Down Syndrome.

Published in:

Journal of Pediatric Research, 2018, v. 5, n. 3, p. 1, doi. 10.4274/jpr.66588

By:

Dilek, Gamze;
Öztürk, Cihat;
Hepgüler, Simin;
Özkınay, Ferda;
Dilek, Mustafa

Publication type:

Article

Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria.

Published in:

Journal of Pediatric Research, 2018, v. 5, p. 39, doi. 10.4274/jpr.59454

By:

Canda, Ebru;
Köse, Melis;
Yazıcı, Havva;
Er, Esra;
Eraslan, Cenk;
Uçar, Sema Kalkan;
Habif, Sara;
Karaca, Emin;
Onay, Hüseyin;
Özkınay, Ferda;
Çoker, Mahmut

Publication type:

Article

Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey.

Published in:

Journal of Pediatric Research, 2018, v. 5, p. 34, doi. 10.4274/jpr.36025

By:

Yazıcı, Havva;
Canda, Ebru;
Er, Esra;
Uçar, Sema Kalkan;
Onay, Hüseyin;
Özkınay, Ferda;
Çoker, Mahmut

Publication type:

Article

Initial and Final Status of the Patients with Niemann Pick A and B: Ege University Experience.

Published in:

Journal of Pediatric Research, 2018, v. 5, p. 22, doi. 10.4274/jpr.75046

By:

Canda, Ebru;
Yazıcı, Havva;
Er, Esra;
Uçar, Sema Kalkan;
Onay, Hüseyin;
Sözmen, Eser;
Özkınay, Ferda;
Çoker, Mahmut

Publication type:

Article

Down Sendromlu Çocuklarda Hematolojik Maligniteler: Geçici Lösemi ve Akut Megakaryoblastik Lösemi.

Published in:

Journal of Pediatric Research, 2015, v. 2, n. 1, p. 46, doi. 10.4274/jpr.27146

By:

Atik, Tahir;
Siviş, Zuhal Önder;
Karadaş, Nihal;
Rashnonejad, Afrooz;
Atikan, Başak Yıldız;
Karapınar, Deniz Yılmaz;
Vardar, Fadıl;
Çoğulu, Özgür;
Özkınay, Ferda

Publication type:

Article

DSM outcomes of psychotic experiences and associated risk factors: 6-year follow-up study in a community-based sample.

Published in:

Psychological Medicine, 2019, v. 49, n. 8, p. 1346, doi. 10.1017/S0033291718001964

By:

Kırlı, Umut;
Drukker, Marjan;
van Os, Jim;
Binbay, Tolga;
Alptekin, Köksal;
Elbi, Hayriye;
Kayahan, Bülent;
Keskin Gökçelli, Duygu;
Özkınay, Ferda;
Onay, Hüseyin

Publication type:

Article

Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry.

Published in:

2019

By:

Yılmaz Karapınar, Deniz;
Patıroğlu, Türkan;
Metin, Ayşe;
Çalışkan, Ümran;
Celkan, Tiraje;
Yılmaz, Barış;
Karakaş, Zeynep;
Karapınar, Tuba H.;
Akıncı, Burcu;
Özkınay, Ferda;
Onay, Hüseyin;
Yeşilipek, Mehmet Akif;
Akar, Himmet Haluk;
Tüysüz, Gülen;
Tokgöz, Hüseyin;
Özdemir, Gül Nihal;
Aslan Kıykım, Ayça;
Karaman, Serap;
Kılınç, Yurdanur;
Oymak, Yeşim

Publication type:

journal article

Bilateral choanal atresia in an adult woman with pycnodysostosis.

Published in:

2017

By:

Durmaz, Ceren Damla;
Taş, Vedat;
Kocaay, Pınar;
Fitöz, Ömer Suat;
Onay, Hüseyin;
Beton, Süha;
Özkınay, Ferda;
Ilgın Ruhi, Hatice

Publication type:

Other

Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment.

Published in:

Hormone Research in Paediatrics, 2017, v. 87, n. 2, p. 81, doi. 10.1159/000452995

By:

Özen, Samim;
Onay, Hüseyin;
atik, Tahir;
Solmaz, aslı Ece;
Özkınay, Ferda;
Gökşen, Damla;
Darcan, Şükran

Publication type:

Article

Testing the Psychosis Continuum: Differential Impact of Genetic and Nongenetic Risk Factors and Comorbid Psychopathology Across the Entire Spectrum of Psychosis.

Published in:

Schizophrenia Bulletin, 2012, v. 38, n. 5, p. 992, doi. 10.1093/schbul/sbr003

By:

Binbay, Tolga;
Drukker, Marjan;
Elbi, Hayriye;
Tanık, Feride Aksu;
Özkınay, Ferda;
Onay, Hüseyin;
Zağlı, Nesli;
van Os, Jim;
Alptekin, Köksal

Publication type:

Article

Clinical Contribution of Next-Generation Sequencing Multigene Panel Testing for BRCA Negative High-Risk Patients With Breast Cancer.

Published in:

2021

By:

Ece Solmaz, Aslı;
Yeniay, Levent;
Gökmen, Erhan;
Zekioğlu, Osman;
Haydaroğlu, Ayfer;
Bilgen, Işıl;
Özkınay, Ferda;
Onay, Hüseyin

Publication type:

journal article

Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes.

Published in:

Molecular Syndromology, 2022, v. 13, n. 5, p. 363, doi. 10.1159/000524391

By:

Bolat, Hilmi;
Sağer, Safiye G.;
Türkyılmaz, Ayberk;
Çebi, Alper H.;
Akın, Yasemin;
Onay, Hüseyin;
Özkınay, Ferda;
Ünsel-Bolat, Gül

Publication type:

Article

Is BDNF‐Val66Met polymorphism associated with psychotic experiences and psychotic disorder outcome? Evidence from a 6 years prospective population‐based cohort study.

Published in:

American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2019, v. 180, n. 2, p. 113, doi. 10.1002/ajmg.b.32641

By:

Kirli, Umut;
Binbay, Tolga;
Drukker, Marjan;
Elbi, Hayriye;
Kayahan, Bülent;
Gökçelli, Duygu Keskin;
Özkınay, Ferda;
Onay, Hüseyin;
Alptekin, Köksal;
van Os, Jim

Publication type:

Article

The association of RANK gene C421T and C575T polymorphisms with bone mineral density in postmenopausal Turkish women.

Published in:

Archives of Gynecology & Obstetrics, 2013, v. 288, n. 4, p. 917, doi. 10.1007/s00404-013-2831-y

By:

İşleten, Banu;
Durmaz, Burak;
Durmaz, Berrin;
Onay, Hüseyin;
Özkınay, Ferda;
Durmaz, Asude;
Turan, Volkan;
Öztekin, Kemal

Publication type:

Article

Molecular analysis of abnormal hemoglobins in beta chain in Aegean region of Turkey and first reports of hemoglobin Andrew-Minneapolis and Hb Hinsdale from Turkey.

Published in:

Hematology, 2015, v. 20, n. 6, p. 354, doi. 10.1179/1607845414Y.0000000193

By:

Aykut, Ayça;
Onay, Hüseyin;
Durmaz, Asude;
Karaca, Emin;
Vergin, Canan;
Aydınok, Yeşim;
Özkınay, Ferda

Publication type:

Article

What is the Role of Mannose-Binding Lectin ID Gene Polymorphism in the Development of Acute Post-Streptococcal Glomerulonephritis?

Published in:

Journal of Dr. Behcet Uz Children's Hospital, 2021, v. 11, n. 3, p. 286, doi. 10.5222/buchd.2021.46693

By:

Güven, Deniz;
Bak, Mustafa;
Serdaroglu, Erkin;
Özkınay, Ferda;
Aykut, Ayça

Publication type:

Article

Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation.

Published in:

Metabolic Brain Disease, 2014, v. 29, n. 3, p. 809, doi. 10.1007/s11011-014-9552-1

By:

Durmaz, Asude;
Atik, Tahir;
Onay, Hüseyin;
Canda, Ebru;
Uçar, Sema;
Bademkıran, Fikret;
Çoker, Mahmut;
Çoğulu, Özgür;
Özkınay, Ferda

Publication type:

Article

Mannose-binding lectin may affect pregnancy outcome.

Published in:

Turkish Journal of Pediatrics, 2015, v. 57, n. 1, p. 26

By:

Çalkavur, Şebnem;
Erdemir, Gülin;
Onay, Hüseyin;
Altun-Köroğlu, Özge;
Yalaz, Mehmet;
Zekioğlu, Osman;
Aksu, Güzide;
Özkınay, Ferda;
Akercan, Fuat;
Kültürsay, Nilgün

Publication type:

Article

Türk populasyonunda MMP2 ve MMP9 değişimlerinin spontan abortus etiyolojisindeki rolü.

Published in:

Ege Journal of Medicine, 2024, v. 63, n. 2, p. 177, doi. 10.19161/etd.1262494

By:

Ataman, Esra;
Hortu, İsmet;
Parıltay, Erhan;
Kırbıyık, Özgür;
Sağol, Sermet;
Özkınay, Ferda;
Çoğulu, Özgür

Publication type:

Article

Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype Correlation.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2024, v. 16, n. 4, p. 431, doi. 10.4274/jcrpe.galenos.2024.2022-12-8

By:

Özen, Samim;
Gökşen, Damla;
Evin, Ferda;
Işık, Esra;
Onay, Hüseyin;
Akgün, Bilçağ;
Ata, Aysun;
Atik, Tahir;
Düzcan, Füsun;
Özkınay, Ferda;
Darcan, Şükran;
Çoğulu, Özgür

Publication type:

Article

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.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2021, v. 13, n. 1, p. 52, doi. 10.4274/jcrpe.galenos.2020.2020.0101

By:

Durmaz, Asude;
Aykut, Ayça;
Atik, Tahir;
Özen, Samim;
Emecen, Durdugül Ayyıldız;
Ata, Aysun;
Işık, Esra;
Gökşen, Damla;
Çoğulu, Özgür;
Özkınay, Ferda

Publication type:

Article

Quality of Life and Psychological Well-being in Children and Adolescents with Disorders of Sex Development.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2021, v. 13, n. 1, p. 23, doi. 10.4274/jcrpe.galenos.2020.2020.0141

By:

Pilan, Birsen Şentürk;
Özbaran, Burcu;
Çelik, Didem;
Özcan, Tuğçe;
Özen, Samim;
Gökşen, Damla;
Ulman, İbrahim;
Avanoğlu, Ali;
Tiryaki, Sibel;
Onay, Hüseyin;
Çoğulu, Özgür;
Özkınay, Ferda;
Darcan, Şükran

Publication type:

Article

A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2020, v. 12, n. 1, p. 113, doi. 10.4274/jcrpe.galenos.2019.2019.0023

By:

Işık, Esra;
Onay, Hüseyin;
Atik, Tahir;
Solmaz, Aslı Ece;
Özen, Samim;
Çoğulu, Özgür;
Darcan, Şükran;
Özkınay, Ferda

Publication type:

Article

Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2020, v. 12, n. 1, p. 109, doi. 10.4274/jcrpe.galenos.2019.2018.0198

By:

Özen, Samim;
Atik, Tahir;
Korkmaz, Özlem;
Onay, Hüseyin;
Gökşen, Damla;
Özkınay, Ferda;
Çoğulu, Özgür;
Darcan, Şükran

Publication type:

Article

EDITORIAL.

Published in:

2017

By:

Özkınay, Ferda;
Darcan, Şükran;
Saygılı, Füsun

Publication type:

Proceeding

Persistent Müllerian Duct Syndrome with Transverse Testicular Ectopia: A Novel Anti-Müllerian Hormone Receptor Mutation.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2017, v. 9, n. 2, p. 179, doi. 10.4274/jcrpe.4058

By:

Korkmaz, Özlem;
Özen, Samim;
Özcan, Nurhan;
Bayındır, Petek;
Şen, Sait;
Onay, Hüseyin;
Gökşen, Damla;
Avanoğlu, Ali;
Özkınay, Ferda;
Darcan, Şükran

Publication type:

Article

Chromosomal Abnormalities in 344 Patients who Were Referred to Cytogenetics Laboratory with Pre-Diagnosis of Short Stature, Turner Syndrome and Sex Developmental Disorders.

Published in:

2015

By:

Rashnonejad, Afrooz;
Atik, Tahir;
Tekin, İsmihan Merve;
Turan, Caner;
Torun, Ozan;
Özen, Samim;
Çoğulu, Özgür;
Gökşen, Damla;
Darcan, Şükran;
Özkınay, Ferda

Publication type:

Abstract

RET Mutation Spectrum in Turkish Cases with Medullary Thyroid Carcinoma: Definition of a Novel K710R Mutation.

Published in:

2015

By:

Tekin, İsmihan Merve;
Onay, Hüseyin;
Aykut, Ayça;
Karaca, Emin;
Atik, Tahir;
Turan, Caner;
Özger, Gökhan;
Erdoğan, Mehmet;
Özkınay, Ferda

Publication type:

Abstract

Genotype-Phenotype Correlation of Congenital Adrenal Hyperplasia Cases Having Complex (Multiple) Mutation Detected in CYP21A2 Gene.

Published in:

2015

By:

Bolat, Hilmi;
Özen, Samim;
Onay, Hüseyin;
Söbü, Elif;
Abacı, Ayhan;
Korkmaz, Hüseyin Anıl;
Can, Şule;
Atik, Tahir;
Darcan, Şükran;
Özkınay, Ferda

Publication type:

Abstract

Phenotype-Genotype Correlations in Bardet-Biedl Syndrome Patients with Molecular Analysis.

Published in:

2015

By:

Solmaz, Aslı Ece;
Onay, Hüseyin;
Atık, Tahir;
Aykut, Ayça;
Güneş, Meltem Cerrah;
Yüreğir, Özge Özalp;
Baş, Veysel Nijat;
Hazan, Filiz;
Kırbıyık, Özgür;
Özkınay, Ferda

Publication type:

Abstract

Prevalence and Molecular Characteristics of Y Chromosome Microdeletions in Infertile Males: A Single-Center Study.

Published in:

2015

By:

Kavasoğlu, Ayşe Nur;
Onay, Hüseyin;
Aykut, Ayça;
Durmaz, Burak;
Karaca, Emin;
Durmaz, Asude;
Özkınay, Ferda

Publication type:

Abstract

A Further Case of Hajdu-Cheney Syndrome Having a Novel Mutation in the NOTCH2 Gene.

Published in:

2015

By:

Kavasoğlu, Ayşe Nur;
Onay, Hüseyin;
Argın, Mehmet;
Özkınay, Ferda

Publication type:

Abstract

A Rare GCMB Gene Mutation in an Isolated Hypoparathyroidism Case.

Published in:

2015

By:

Ertürk, Biray;
Karaca, Emin;
Silce, Caroline;
Özkınay, Ferda

Publication type:

Abstract

Olfactory Sulcus Hypoplasia Images in a Case of Kallmann Syndrome.

Published in:

2015

By:

Yürekli, Banu Şarer;
Kutbay, Nilüfer Özdemir;
Karaca, Emin;
Erdoğan, Mehmet;
Çetinkalp, Şevki;
Kitiş, Ömer;
Özgen, A. Gökhan;
Özkınay, Ferda;
Saygılı, L. Füsun

Publication type:

Abstract

A Case of Dyskeratosis Congenita Associated with Hypothyroidism and Hypogonadism.

Published in:

2015

By:

Kutbay, Nilüfer Özdemir;
Erdemir, Zehra;
Yürekli, Banu Şarer;
Karaca, Emin;
Erdoğan, Mehmet;
Çetinkalp, Şevki;
Kandiloğlu, Gülşen;
Özgen, A. Gökhan;
Özkınay, Ferda;
Saygılı, L. Füsun

Publication type:

Abstract

The Usage of Genetic Technologies in Endocrine Diseases.

Published in:

2015

By:

Özkınay, Ferda

Publication type:

Abstract

Chromosomal Abnormalities in 344 Patients who Were Referred to Cytogenetics Laboratory with Pre-Diagnosis of Short Stature, Turner Syndrome and Sex Developmental Disorders.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 91

By:

Rashnonejad, Afrooz;
Atik, Tahir;
Tekin, İsmihan Merve;
Turan, Caner;
Torun, Ozan;
Özen, Samim;
Çoğulu, Özgür;
Gökşen, Damla;
Darcan, Şükran;
Özkınay, Ferda

Publication type:

Article

RET Mutation Spectrum in Turkish Cases with Medullary Thyroid Carcinoma: Definition of a Novel K710R Mutation.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 90

By:

Tekin, İsmihan Merve;
Onay, Hüseyin;
Aykut, Ayça;
Karaca, Emin;
Atik, Tahir;
Turan, Caner;
Özger, Gökhan;
Erdoğan, Mehmet;
Özkınay, Ferda

Publication type:

Article

Genotype-Phenotype Correlation of Congenital Adrenal Hyperplasia Cases Having Complex (Multiple) Mutation Detected in CYP21A2 Gene.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 88

By:

Bolat, Hilmi;
Özen, Samim;
Onay, Hüseyin;
Söbü, Elif;
Abacı, Ayhan;
Korkmaz, Hüseyin Anıl;
Can, Şule;
Atik, Tahir;
Darcan, Şükran;
Özkınay, Ferda

Publication type:

Article

Phenotype-Genotype Correlations in Bardet-Biedl Syndrome Patients with Molecular Analysis.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 82

By:

Solmaz, Aslı Ece;
Onay, Hüseyin;
Atık, Tahir;
Aykut, Ayça;
Güneş, Meltem Cerrah;
Yüreğir, Özge Özalp;
Baş, Veysel Nijat;
Hazan, Filiz;
Kırbıyık, Özgür;
Özkınay, Ferda

Publication type:

Article

Prevalence and Molecular Characteristics of Y Chromosome Microdeletions in Infertile Males: A Single-Center Study.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 74

By:

Kavasoğlu, Ayşe Nur;
Onay, Hüseyin;
Aykut, Ayça;
Durmaz, Burak;
Karaca, Emin;
Durmaz, Asude;
Özkınay, Ferda

Publication type:

Article

A Further Case of Hajdu-Cheney Syndrome Having a Novel Mutation in the NOTCH2 Gene.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 74

By:

Kavasoğlu, Ayşe Nur;
Onay, Hüseyin;
Argın, Mehmet;
Özkınay, Ferda

Publication type:

Article

A Rare GCMB Gene Mutation in an Isolated Hypoparathyroidism Case.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 59

By:

Ertürk, Biray;
Karaca, Emin;
Silce, Caroline;
Özkınay, Ferda

Publication type:

Article

Olfactory Sulcus Hypoplasia Images in a Case of Kallmann Syndrome.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 49

By:

Yürekli, Banu Şarer;
Kutbay, Nilüfer Özdemir;
Karaca, Emin;
Erdoğan, Mehmet;
Çetinkalp, Şevki;
Kitiş, Ömer;
Özgen, A. Gökhan;
Özkınay, Ferda;
Saygılı, L. Füsun

Publication type:

Article

A Case of Dyskeratosis Congenita Associated with Hypothyroidism and Hypogonadism.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 42

By:

Kutbay, Nilüfer Özdemir;
Erdemir, Zehra;
Yürekli, Banu Şarer;
Karaca, Emin;
Erdoğan, Mehmet;
Çetinkalp, Şevki;
Kandiloğlu, Gülşen;
Özgen, A. Gökhan;
Özkınay, Ferda;
Saygılı, L. Füsun

Publication type:

Article