SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler
CLINICAL SPECTRUM OF CUBULIN MUTATIONS
PEDIATRIC NEPHROLOGY
, cilt.37, sa.11, ss.2845-2846, 2022 (SCI-Expanded)
GENETIC TESTS IN NON-NEUROGENIC NEUROGENIC BLADDER: TWO SIBLINGS WITH OCHOA SYNDROME
PEDIATRIC NEPHROLOGY
, cilt.37, sa.11, ss.2911, 2022 (SCI-Expanded)
Etiological analysis of hypophosphatemia: A single-center experience
HORMONE RESEARCH IN PAEDIATRICS
, cilt.95, sa.SUPPL 2, ss.141-142, 2022 (SCI-Expanded)
Two new cases diagnosed with Hermansky-Pudlak Syndrome
EUROPEAN JOURNAL OF HUMAN GENETICS
, cilt.30, sa.SUPPL 1, ss.223, 2022 (SCI-Expanded)
CLINICAL-GENETIC CHARACTERISTICS AND PREDICTORS OF DISEASE PROGRESSION IN PATIENTS WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE
PEDIATRIC NEPHROLOGY
, cilt.36, sa.10, ss.3422, 2021 (SCI-Expanded)
THE FIRST CASE OF AMYLOIDOSIS DUE TO HOMOZYGOUS P.V377I MUTATION IN A PATIENT WITH HYPERIMMUNOGLOBULIN D SYNDROME
PEDIATRIC NEPHROLOGY
, cilt.36, sa.10, ss.3448, 2021 (SCI-Expanded)
PHENOTYPIC AND GENOTYPIC CHARACTERISTICS OF CHILDREN WITH BARTTER SYNDROME
PEDIATRIC NEPHROLOGY
, cilt.36, sa.10, ss.3430, 2021 (SCI-Expanded)
KIDNEY DIMENSION IS THE MOST IMPORTANT PARAMETER ASSOCIATED WITH DETERIORATION IN KIDNEY FUNCTION IN CHILDREN WITH AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE
PEDIATRIC NEPHROLOGY
, cilt.36, sa.10, ss.3421, 2021 (SCI-Expanded)
A rare cause of hypercalcemia: Congenital Lactase Deficiency
HORMONE RESEARCH IN PAEDIATRICS
, cilt.94, sa.SUPPL 1, ss.75, 2021 (SCI-Expanded)
Progesterone Receptivity and Expression of Progesterone Triggered Genes at the Decidual Tissue in Patients with Recurrent Pregnancy Loss.
EUROPEAN JOURNAL OF HUMAN GENETICS
, cilt.28, sa.SUPPL 1, ss.804, 2020 (SCI-Expanded)
Expanding of mutation spectrum in Muscular Dystrophies: A Turkish Cohort
EUROPEAN JOURNAL OF HUMAN GENETICS
, cilt.28, sa.SUPPL 1, ss.435-436, 2020 (SCI-Expanded)
Genotype and Phenotype Characterization of Turkish Patients with Vitamin D Dependent Rickets Type IA
HORMONE RESEARCH IN PAEDIATRICS
, cilt.91, ss.215, 2019 (SCI-Expanded)
Rare Causes of Osteogenesis Imperfecta are Common in Consanguineous Pedigrees
HORMONE RESEARCH IN PAEDIATRICS
, cilt.91, ss.214, 2019 (SCI-Expanded)
A rare cause of hypophosphatemia: Raine Syndrome
HORMONE RESEARCH IN PAEDIATRICS
, cilt.91, ss.384, 2019 (SCI-Expanded)
THE CO-EXISTENCE OF TWO RARE DISEASES: A CASE REPORT
PEDIATRIC NEPHROLOGY
, cilt.33, sa.10, ss.1881, 2018 (SCI-Expanded)
DOES C.3979 G > A/P.VAL1327MET VARIANT OF COL4A4 HAS ANY PATHOGENIC EFFECT IN TURKISH PATIENTS WITH ALPORT SYNDROME?
PEDIATRIC NEPHROLOGY
, cilt.32, sa.9, ss.1773, 2017 (SCI-Expanded)
THE INFLUENCE OF PREFORMED HLA CLASS I AND II PANEL REACTIVE ANTIBODIES ON CLINICAL AND PATHOLOGICAL OUTCOMES OF KIDNEY ALLOGRAFT
TRANSPLANT INTERNATIONAL
, cilt.30, ss.318, 2017 (SCI-Expanded)
THE ROLE OF SOLUBLE CTLA-4 AS A NON-INVASIVE BIOMARKER FOR DIAGNOSIS OF KIDNEY ALLOGRAFT REJECTION: A PRELIMINARY STUDY
TRANSPLANT INTERNATIONAL
, cilt.30, ss.303, 2017 (SCI-Expanded)
Determination of CYP2C19 polymorphisms, adverse drug reaction, and medication adherence in patients utilized selective serotonin reuptake inhibitors
INTERNATIONAL JOURNAL OF CLINICAL PHARMACY
, cilt.37, sa.1, ss.231-232, 2015 (SCI-Expanded)
EFFECTIVENESS OF PLASMAPHERESIS AS A TREATMENT OF CHOICE IN SENSITIZED RENAL RECIPIENTS
TRANSPLANT INTERNATIONAL
, cilt.26, ss.79, 2013 (SCI-Expanded)
Diğer Dergilerde Yayınlanan Makaleler
Association of TBX21 gene polymorphism with nasal polyposis
Praxis of ORL
, cilt.7, sa.3, ss.145-150, 2019 (Hakemli Dergi)
Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar
İzole kronik proteinürili çocuk hastalarda Cubilin mutasyonu
10. Marmara Pediatri Kongresi, İstanbul, Türkiye, 07 Nisan 2023
Toplumumuzda Osteogenezis İmperfektada Genetik Nedenler ve Genotip Fenotip İlişkisi
XXV. Ulusal Pediatrik Endokrinoloji & Diyabet Kongresi, Antalya, Türkiye, 06 Ekim 2021
Two new cases diagnosed with Hermansky-Pudlak Syndrome
ESHG 2021 Virtual Congress, 28 Ağustos 2021
Schaaf Yang sendromu
4. Ulusal Çocuk Genetik kongresi, İstanbul, Türkiye, 25 - 27 Eylül 2019
Nadir bir iskelet displazisi: Piknodizostoz tanısı alan iki kız kardeş
4. Ulusal Çocuk genetik kongresi, Türkiye, 25 - 27 Eylül 2019
Rare Causes of Osteogenesis Imperfecta are Commonin Consanguineous Pedigrees
European Society for Paediatric Endocrinology (ESPE)58th Annual Meeting, Vienna, VİYANA, Avusturya, 19 - 21 Eylül 2019
TWO NOVEL MUTATIONS IN THREE DIFFERENT GENES ASSOCIATED WITHRETINITIS PIGMENTOSA/LEBER CONGENITAL AMAROSIS IN ONE PATIENT
13. BALKAN GENETİK KONGRESİ, Edirne, Türkiye, 16 - 20 Nisan 2019
Von Hippel Lindau Patients
13. BALKAN GENETİK KONGRESİ, Edirne, Türkiye, 16 - 20 Nisan 2019
Acute Pancreatitis Severity Related With Macrophage Migration Inhibitory FactorGene - 173 G/C Polymorphism and Serum MIF Level
13. balkan genetik kongresi, Edirne, Türkiye, 16 - 20 Nisan 2019
Yenidoğanda Nadir Bir Hiperkalsemi nedeni : Kalsiyum Duyarlı Reseptör Mutasyonuna bağlı Ağır neonatal Hiperparatiroidizm
27. Ulusal Neonatoloji Kongresi, Antalya, Türkiye, 3 - 07 Nisan 2019
Ankilozan Spondilit’te Mikrorna Ekspresyonu
Uluslararası Katılımlı Türk Romatoloji Kongresi, Antalya, Türkiye, 20 - 24 Mart 2019
ANKİLOZAN SPONDİLİT’xxTE MİKRO RNA EKSPRESYONU
Uluslararası Katılımlı 13. Ulusal Tıbbi Genetik Kongresi, Türkiye, 7 - 11 Kasım 2018
Chromosomal array-CGH analysisin patients having neurodevelopmental delay and dysmorphic features
13 ULUSAL TIBBİ GENETİK KONGRESİ, Türkiye, 7 - 11 Kasım 2018
FARKLI GENLER,FARKLI MUTASYONLAR,FENOTİPTE FARKLILIK YARATIYOR MU ?: ALPORT SENDROMU
Uluslararası Katılımlı 13. Ulusal Tıbbi Genetik Kongresi, Türkiye, 7 - 11 Kasım 2018
Genotype and phenotype correlation in Turkish Alport syndrome patients with different COL4A3, COL4A4 and COL4A5 mutations.
ASHG 2018, 16 Ekim 2018 - 20 Ocak 2019
A novel intronic ATM genemutation a×ecting splicing in a patient withAtaxia-Telangiectasia
ESHG2018, 16 - 19 Haziran 2018
Herediter parapleji hastalık ailesine olgularla yaklaşım
20. Çocuk Ulusal Nörolojisi Kongresi, Kıbrıs (Kktc), 2 - 06 Mayıs 2018
THE ROLE OF SOLUBLE CTLA-4 AS A NON-INVASIVEBIOMARKER FOR DIAGNOSIS OF KIDNEY ALLOGRAFTREJECTION: A PRELIMINARY STUDY
18th Congressof the European Society for Organ Transplantation, 24 - 27 Eylül 2017
COMPARISON OF THE TREATMENT EFFICACY OFRITUXIMAB AND PLASMAPHERESIS/INTRAVENOUSIMMUNOGLOBULIN COMBINATION WITH HISTORICALCONTROL IN CHRONIC ANTIBODY MEDIATEDREJECTION
18th Congressof the European Society for Organ Transplantation, 24 - 27 Eylül 2017
THE INFLUENCE OF PREFORMED HLA CLASS I AND II PANEL REACTIVE ANTIBODIES ON CLINICAL AND PATHOLOGICAL OUTCOMES OF KIDNEY ALLOGRaft
ESOT, 15 - 18 Eylül 2017, cilt.30, ss.318
Does C.3979 G A/P.VAL1327MET variant of COL4A4 has any pathogenic effect in Turkish patients with Alport Syndrome ?
48th Anniversary Meeting of the European Society for Paediatric Nephrology, 6 - 09 Eylül 2017
A Novel HNF1B mutation in a family with two MODY patients
The European Society of Human Genetics, European Human Genetics Conference, 27 - 30 Mayıs 2017
BBS10 frameshift mutation in a Turkish girl with Bardet Biedl Syndrome.
The European Society of Human Genetics, European Human Genetics Conference, 27 - 30 Mayıs 2017
Evaluation of BRCA1/BRCA2 test results for Turkish breast cancer families.
The European Society of Human Genetics, European Human Genetics Conference, 27 - 30 Mayıs 2017
Evaluation of BRCA1/2 test results for Turkish breast cancer families.
The European Society of Human Genetics 2017, KOPENHAGEN, Danimarka, 25 - 30 Mayıs 2017
A novel HNF1B mutation in a family with two MODY patients
The European Society of Human Genetics 2017., KOPENHAGEN, Danimarka, 25 - 28 Mayıs 2017
Inversion Y Having Different Phenotypic Expressions at Three Brothers
The European Society of Human Genetics, KOPENHAGEN, Danimarka, 25 - 30 Mayıs 2017
BBS10 frameshift mutation in a turkish girl with bardet biedl syndrome
The European Society of Human Genetics 2017, KOPENHAGEN, Danimarka, 25 - 30 Mayıs 2017
BBS-10 frameshift mutation in a Turkish girl with bardet biedl syndrome
ERCİYES TIP GÜNLERİ 2017, Kayseri, Türkiye, 11 - 13 Mayıs 2017
EVALUATION OF THE BRCA1/BRCA2 MUTATIONS AT BREAST CANCER PATIENTS
ERCİYES TIP GÜNLERİ, Kayseri, Türkiye, 11 - 13 Mayıs 2017
Largest family in Turkey with multiple endocrine neoplasia-type 1 and a newly discovered mutation.
16. Eurasian Congress of Gastrtoenterology and Surgery, Mostar, Bosna-Hersek, 27 - 30 Nisan 2017, cilt.7, ss.117-118
A New Flowcytometric crossmatch Technique with 7AAD For Cytotoxic Antibody Detection
TÜRKİYE ORGAN NAKLİ KOORDİNATÖRLERİ KONGRESİ, Konya, Türkiye, 13 - 15 Ekim 2016
Nöromotor gelişme geriliği ve distonili Xq28 duplikasyon sendromu
12. Ulusal Tıbbi Genetik Kongresi, Türkiye, 5 - 09 Ekim 2016
Geç tanı almış Williams sendromlu üç olgunun klinik değerlendirmesi
12. Ulusal Tıbbi Genetik Kongresi, Türkiye, 5 - 09 Ekim 2016
Silver Russel Sendromlu bir olgu
12. Ulusal Tıbbi Genetik Kongresi, Türkiye, 5 - 09 Ekim 2016
Beckwith Wiedemann sendromlu olgunun klinik bulguları ve moleküler tanısı
12. Ulusal Tıbbi Genetik Kongresi, Türkiye, 5 - 09 Ekim 2016
Nadir görülen bir genetik sendrom: Meacham sendromu
12. Ulusal Tıbbi Genetik Kongresi, Türkiye, 5 - 09 Ekim 2016
Chromosome 17p11.2 deletion in a Turkish girl with Smith -Magenis Syndrome
12. Ulusal Tıbbi Genetik Kongresi, Türkiye, 5 - 09 Ekim 2016
RAB3GAP1 geninde bilinen bir splice-site mutasyonunun fonksiyonel değerlendirilmesi
12. Ulusal Tıbbi Genetik Kongresi, Türkiye, 5 - 09 Ekim 2016
Von Hippel -Lindau sendromu ailesindeki asemptomatik 3 çocoğun genetik test sonuçlarının değerlendirilmesi
12. Ulusal Tıbbi Genetik Kongresi, Türkiye, 5 - 09 Ekim 2016
Clinical Evaluation of a MDC1A Case Carrying LAMA2 Mutation
ULUSAL TIBBİ GENETİK KONGRESİ, İZMİR ÇEŞME, Türkiye, 5 - 09 Ekim 2016
Yaşlanma ile İlişkili Klotho Geni ve Bu Genin Ekspresyonunda Epigenetik Faktörlerin Rolü
Ulusal Moleküler Tıp Sempozyumu: Moleküler Bakıştan Kliniğe, İstanbul, Türkiye, 1 - 03 Haziran 2016
A case of Weaver Syndrome caused by a novel frameshift EZH2 mutation
European Society of Human Genetics, 21 - 24 Mayıs 2016
Analysis of The Molecular Markers in 49 AML Patients
European Society of Human Genetics Congress, Barcelona, İspanya, 21 - 24 Mayıs 2016
Recurrent miscarriage and implantation failure Could the etiology be maternal intolerance itself
European Society of Human Genetics Congress, BARSELONA, İspanya, 21 - 24 Mayıs 2016
A novel splice site JAG1 mutation in a Turkish girl with Alagille Syndrome
European Society Of Human Genetics Congress, Barcelona, İspanya, 21 - 24 Mayıs 2016
A Case of Sotos Syndrome with a Novel Mutation of NSD1 Gene
European Society ofHuman Genetics, 6 - 09 Haziran 2015
Recurrent Fetal Loss Family with Translocation t 18 19 p11 2 p13 1 and its Clinical İmplications
European Society of Human Genetics, 6 - 09 Haziran 2015
Translocation t 18 19 p11 2 p13 1 and its Clinical Implications Case report and Mechanism of Pathogenesis
ESHG Congress 2015, 6 - 09 Haziran 2015
PROGRESİVA ANKİLOZAN SPONDİLİT İLE KARIŞAN NADİR BİR HASTALIK
25.UlusalFiziksel TipveRehabilitasyonKongresi, Türkiye, 22 - 26 Nisan 2015
KALITIMSAL HETEROTOPI K OSSI FI KASYON SENDROMLARI FI BRODI SPLAZI A OSSI FI KANS PROGRESSI VAMI PROGRESI F OSSÖZ HETEROPLAZI MI OLGU SUNUMU
25.UlusalFizikselTipveRehabilitasyonKongresi, Türkiye, 22 - 26 Nisan 2015
KALITIMSAL HETEROTOPİK OSSİFİKASYON SENDROMLARI FİBRODİSPLAZİA OSSİFİKANS PROGRESSİVA MI PROGRESİF OSSÖZ HETEROPLAZİ Mİ OLGU SUNUMU
24. Ulusal Fiziksel Tıp ve Rehabilitasyon Kongresi, Türkiye, 23 - 26 Nisan 2015
KADAVRA BÖBREK BESLEME LİSTESİNDEKİ HASTALARDA PRA DÜZEYİNİ BEKLEYEN FAKTÖRLER
10. Türkiye Organ Nakli Kuruluşları Kordinasyon Derneği Kongresi, Muğla, Türkiye, 15 - 18 Ekim 2014
Kadavradan Alıcı Seçimini Etkileyen Faktörler
10. Türkiye Organ Nakli Kuruluşları Kordinasyon Derneği Kongresi, Muğla, Türkiye, 15 - 18 Ekim 2014
Pretransplant Gelişmiş Hla Sınıf I ve II Panel Reaktif Antikor Varlığının Graft Fonksiyonu ve Sağ Kalıma Etkisi
10. Türkiye Organ Nakli Kuruluşları Kordinasyon Derneği Kongresi, Muğla, Türkiye, 15 - 18 Ekim 2014
Kronik Antikor Aracılı Rejeksiyonda Rituksimab ve Plazmaferez/İntravenöz İmmünglobulin Kombinasyonun Etkinliğinin
10. Türkiye Organ Nakli Kuruluşları Kordinasyon Derneği Kongresi, Muğla, Türkiye, 15 - 18 Ekim 2014
Alt extremite hemihipertrofisi olan bir Prader Willi Sendromu Olgusu
11. Ulusal Tıbbi Genetik Kongresi, Türkiye, 24 - 27 Eylül 2014
Duchenne Musküler Distrofi DMD tipik klinik bulguları olan ve DMD geninde nonsense mutasyon saptanan olgu
11. Ulusal Tıbbi Genetik Kongresi, Türkiye, 24 - 27 Eylül 2014
FBN1 mutasyonu ve tipik klinik bulguları olan Marfan sendromlu üç olgu
11. Ulusal Tıbbi Genetik Kongresi, Türkiye, 24 - 27 Eylül 2014
Recurrent fetal loss family with translocation t 18 19 p11 2 p13 1 and its clinical implications
11. Ulusal Tıbbi Genetik Kongresi, 24-27 Eylül 2014, Türkiye, 24 - 27 Eylül 2014
Kitap & Kitap Bölümleri
Transplantasyon Antijenleri ve Genetiği
Renal Transplantasyona Pratik Yaklaşım, MESUT İZZET TİTİZ, Editör, NOON TANITIM, İstanbul, ss.47-58, 2010
Transplantasyon İmmünolojisine Giriş,
Renal Transplantasyona PratikYaklaşım, Mesut İzzet Titiz, Editör, NOON TANITIM, İstanbul, ss.29-42, 2010