Erhan PARILTAY
Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Anabilim Dalı
Araştırma alanları: Sağlık Bilimleri, Tıp, Dahili Tıp Bilimleri, Tıbbi Genetik, Çocuk Sağlığı ve Hastalıkları, Pediatrik İmmünoloji ve Allerji, Temel Tıp Bilimleri, Temel Bilimler, Yaşam Bilimleri, Diğer
Yayınlar
- Impact of testosterone-based gender-affirming hormone therapy on toll-like receptor transcript levels and peripheral blood leukocyte counts in transmasculine individuals (2026)
- Videography of the Nose and Face for Rhinoplasty and Facial Plastic Surgery: Which Method Is the Best? (2026)
- Digital droplet PCR for detection of SMN1 deletion in low-concentration fragmented cell-free DNA: a proof of concept study (2026)
- Impact of testosterone-based gender-affirming hormone therapy on toll-like receptor transcript levels and peripheral blood leukocyte counts in transmasculine individuals (2026)
- Testing DAT1 and DRD4 Genes in Attention Deficit Hyperactivity Disorder Using a Wide Spectrum of Neurocognitive Batteries (2026)
- The anticancer potential of Origanum onites L. in gastric cancer through epigenetic alterations (2025)
- Detection of copy number variations by chromosomal microarray analysis in disorders of sex development of unexplained molecular etiology and association with clinical findings (2025)
- Identifying a rare mechanism: double parallel trisomy rescue leading to combined segmental and whole-chromosome mosaicism in an IVF-derived embryo (2025)
- Long-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency (2024)
- Türk Popülasyonunda MMP2 ve MMP9 Değişimlerinin Spontan Abortus Etiyolojisindeki Rolü (2024)
- Evaluation of apolipoprotein A5 variants: A cohort of patients with severe hypertriglyceridemia from Turkiye (2024)
- Uniparental Disomy of Chromosome 4: A Case of Whole Chromosome UPD Presenting with LRBA Deficiency (2024)
- Evaluation of apolipoprotein A5 variants: A cohort of patients with severe hypertriglyceridemia from Turkiye (2023)
- Evaluation of apolipoprotein A5 variants: A cohort of patients with severe hypertriglyceridemia from Turkiye (2023)
- A unique case of thrombophilia: the role of F9 gene duplication and increased factor IX activity in cerebral venous thrombosis (2023)
- Association between clinical variations and copy number variations in cases with Turner syndrome (2022)
- Prenatal diagnosis of a case with tetrasomy 9p confirmed by cytogenetics, FISH, microarray analysis and review (2022)
- Kopya Numara Sayısı Değişikliklerinin Ekzom Sekanslama Yöntemiyle Saptanması (2022)
- Propolis Extract Regulates microRNA Expression in Glioblastoma and Brain Cancer Stem Cells. (2022)
- Investigation of possible associations of the BDNF, SNAP-25 and SYN III genes with the neurocognitive measures: BDNF and SNAP-25 genes might be involved in attention domain, SYN III gene in executive function (2022)
- Prenatal diagnosis of a case with tetrasomy 9p confirmed by cytogenetics, FISH, microarray analysis and review (2022)
- 20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey (2021)
- 11Q Oktozomisi Saptanan Nadir Aml Olgusu (2021)
- TdT Negativity and ETP Phenotype in Young Patients with Acute T- Lymphoid Leukemia: A Case Report (2021)
- Miyelodisplastik Sendromda Kromozomal Yeniden Düzenlemelerin Tespiti: Standart Karyotip Ve Fish Yöntemleri Arasinda Karşilaştirma (2021)
- 20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey (2021)
- Prenatal Diagnosis of a Case with Tetrasomy 9p Confirmed by Cytogenetics, FISH, Microarray Analysis and Review (2021)
- Ege Üniversitesi Tıp Fakültesi’nde COVID-19 Salgını Sürecinde Eğitim Education at the Ege University Faculty of Medicine During the COVID-19 Pandemic (2021)
- NF1 TÜM GEN DELESYONU SAPTANAN DİSMORFİK BİR NÖROFİBROMATOZİS OLGUSU (2020)
- Progressive Multifocal Leukoencephalopathy Associated with Idiopathic CD4+Lymphocytopenia in a Patient with Heterozygous STAT4 Mutation (2020)
- Co-occurrences of polymorphic heterochromatin regions of chromosomes and effect on reproductive failure (2020)
- Co-occurrences of polymorphic heterochromatin regions of chromosomes and effect on reproductive failure. (2020)
- Co-occurrences of polymorphic heterochromatin regions of chromosomes and effect on reproductive failure (2020)
- Progressive Multifocal Leukoencephalopathy Associated with Idiopathic CD4+ Lymphocytopenia in a Patient with Heterozygous STAT4 Mutation (4414) (2020)
- İdiyopatik Azospermi Genetiğinde Güncel Gelişmeler (2020)
- Multipl Skleroz ve Epigenetik (2020)
- DRD4 genotyping may differentiate symptoms of attention-deficit/hyperactivity disorder and sluggish cognitive tempo (2020)
- Yavaş Bilişsel Tempo ve Dikkat Eksikliği Hiperaktivite Bozukluğu: Benzerlikleri ve Farklılıkları (2020)
- Lipodistrofide fenotip genotip ilişkisi (2019)
- Genetically defined mutations in primary immunodeficiencies by new generation sequencing targeted gene method: results of 200 patients from one center in Western Turkey (2019)
- Genotyping of DRD4 and DAT1 Genes May Differentiate Symptoms of Attention Deficit Hyperactivity Disorder and Sluggish Cognitive Tempo (2019)
- Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages (2019)
- Genetically defined mutations in primary immunodeficiencies by new generation sequencing targeted gene method: results of 200 patients from one center in Western Turkey. (2019)
- Ege Üniversitesi Pediatrik İmmünoloji Bilim Dalı’xxnda Primer İmmün Yetmezliklerde Yeni Nesil Dizileme Hedeflenmiş Gen Yöntemi ile Moleküler Bozuklukların Araştırılması (2018 yılı sonuna dek tüm veriler) (2019)
- PRENATAL DIAGNOSIS OF A FETUS CARRYING inv(12): CASE REPORT (2019)
- Genetically defined mutations in primary immunodeficiencies by new generation sequencing targeted gene method: results of 200 patients from one center in Western Turkey (2019)
- Ege Üniversitesi Pediatrik İmmünoloji Bilim Dalı’xxnda Primer İmmün Yetmezliklerde Yeni Nesil Dizileme Hedeflenmiş Gen Yöntemi ile Moleküler Bozuklukların Araştırılması (2018 yılı sonuna dek tüm veriler) (2019)
- Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages (2019)
- Genetically defined mutations in primary immunodeficiencies by new generation sequencing targetted method: Results of 200 patients from one center in western Turkey (2019)
- TRNT1 disease presenting with congenital hemolytic anemia and hypogammoglobulinemia (2019)
- A novel ttc37 mutation causing clinical symptoms of trichohepatoenteric syndrome such as pyoderma gangrenosum and immunodeficiency without severe diarrhea (2019)
- Genotyping of DRD4 and DAT1 Genes May Differentiate Symptoms of Attention-Deficit/ Hyperactivity Disorder and Sluggish Cognitive Tempo (2019)
- Profile Templates to Use during Surgery in Precision Rhinoplasty (2019)
- PREIMPLANTATION GENETIC DIAGNOSIS FOR T(2;5) (q37.1;q35.1): CASE REPORT (2019)
- CHROMOSOMAL MICROARRAY EXPERIENCE OF 94 CASES: INITIATE DIFFICULTIES AND PROGRESSION (2019)
- Co-occurrences of polymorphic heterochromatin regions of chromosomes and effect on reproductive failure (2019)
- Evaluation of 22q11.2 anomalies via two pediatric patients (2019)
- Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages. (2019)
- Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages (2018)
- KML ÖN TANILI OLGULARDA SİTOGENETİK VE FISHSONUÇLARININ DEĞERLENDİRİLMESİ (2018)
- Prevalence of Y microdeletions in Turkish azoospermia or oligospermia patients (2018)
- Down Sendromunda Tanı (2018)
- Primer İmmün Yetmezlik Tanılı Olgularda Hedeflenmiş Yeni Nesil Dizi Analizi ile 264 Gen Mutasyon Sonuçlarının Değerlendirilmesi. (2018)
- Autosomal dominant immune dysregulation syndrome in a patient with CTLA4 deficiency (2018)
- PRENATAL DÖNEMDE TANI ALAN NADİR BİR OLGU: NON-MOZAİK TETRAZOMİ 9P (2018)
- Dilşah (2018)
- Down Sendromunda Prenatal Tanı (2018)
- An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation (2018)
- A novel TTC37 mutation causing trichohepatoenteric syndrome in a patient with immunodeficiency without diarrhea (2018)
- NOD2 mutasyonu saptanan olgularda klinik çeşitlilik. (2018)
- Comprehensive targeted next-generation sequencing panel: A rapid diagnostic tool for unraveling primary immunodeficiencies in pediatric patients (2017)
- Comprehensive targeted next-generation sequencing panel: A rapid diagnostic tool for unraveling primary immunodeficiencies in pediatric patients (2017)
- Primer İmmün Yetmezliklerde Hastalığa Neden Olan Genetik Defektlerin Yeni Nesil Dizileme Yöntemiyle Araştırılması (2017)
- Tetrasomy Xq in a Primary Infertile Case (2017)
- Hastalıklara Yatkınlıklar (2017)
- Comprehensive targeted next-generation sequencing panel: A rapid diagnostic tool for unraveling primary immunodeficiencies in pediatric patients (2017)
- PRENATAL DIAGNOSIS OF A FETUS CARRYING INV (12): CASE REPORT (2017)
- RING CHROMOSOME 3 IN A CASE WITH MICROCEPHALY ANDGROWTH RETARDATION (2017)
- POPÜLASYON GENETİĞİ (2017)
- Tetrasomy Xq in a Primary Infertile Case (2017)
- CHROMOSOMAL MICROARRAY EXPERIENCE OF 94 CASES:INITIATE DIFFICULTIES AND PROGRESSION (2017)
- PREIMPLANTATION GENETIC DIAGNOSIS FOR T(25)(q37.1q35.1): CASE REPORT (2017)
- AKUT MYELOİD LÖSEMİ AML ÖN TANILI OLGULARINSİTOGENETİK SONUÇLARININ RETROSPEKTİF OLARAKDEĞERLENDİRİLMESİ (2016)
- Moleküler Yöntemler PCR Jel Yükleme Elektroforez (2016)
- Marker kromozom tesbit edilen olgunun konvansiyonel sitogenetik ve mikroarray ile incelenmesi (2016)
- MİYELODİSPLASTİK SENDROM MDS ÖN TANILI OLGULARINSİTOGENETİK SONUÇLARININ RETROSPEKTİF OLARAKDEĞERLENDİRİLMESİ (2016)
- PRENATAL DİAGNOSİS PALLISTER KILLIAN SYNDROME MOSAİC TETROSMY 12P (2016)
- Metabolik Hastalıklar ve Genetiği (2016)
- TACI ICOS and BAFFR mutation analysis in 449 Common Variable Immunodefi ciency CVID patients (2016)
- The role of functional polymorphisms of matrix metalloproteinases 2 and 9 in spontaneous abortion samples (2016)
- Prematür Over Yetmezliği Olgusunda Mikroarray ile Saptanan kompleks X Y Translokasyonu (2016)
- İkinci Trimester Sonografik Taramasında Multipl Yapısal Anomaliler Gösteren Trizomi 22 Olgusu ve Literatür Derlemesi (2016)
- Marker Kromozomu Tespit Edilen Olgunun Konvansiyonel Sitogenetik ve Mikroarray ile incelenmesi (2016)
- A review of a 20 year experience with prenatal diagnosis records 9 297cases from Turkey (2016)
- A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel (2016)
- der 19 t 1 19 in Childhood Acute Lymphoblastic Leukemia Patient (2015)
- Genome wide copy number variation analysis in idiopathic intellectual disability multipl congenital anomalies (2014)
- GENOME-WIDE COPY NUMBER VARIATION ANALYSIS IN IDIOPATHIC INTELLECTUAL DISABILITY/MULTIPLE CONGENITAL ANOMALIES (2014)
- Genome-wide copy number variation analysis in idiopathic intellectual disability/multiple congenital anomalies. (2014)
- Genome-wide copy number variation analysis in idiopathic intellectual disability/multiple congenital anomalies (2014)