Haluk AKIN
Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Anabilim Dalı
Araştırma alanları: Sağlık Bilimleri, Tıp, Dahili Tıp Bilimleri, Tıbbi Genetik, Temel Tıp Bilimleri, Çocuk Sağlığı ve Hastalıkları, İç Hastalıkları, Cerrahi Tıp Bilimleri, Temel Bilimler, Moleküler Biyoloji ve Genetik
Yayınlar
- The impact of inhibiting the Hippo signaling pathway effectomolecule YAP1 on in vitro glioblastoma and glioblastoma stem cells (2026)
- Correction: The impact of inhibiting the Hippo signaling pathway effector molecule YAP1 on in vitro glioblastoma and glioblastoma stem cells (2026)
- Integrative and systematic genomic approaches to improve diagnosis in rare and undiagnosed diseases: results from the RareBoost project (2026)
- Testing DAT1 and DRD4 Genes in Attention Deficit Hyperactivity Disorder Using a Wide Spectrum of Neurocognitive Batteries (2026)
- Functional Characterization of a Novel Splice-Altering Intronic Variant in AMPD2 Associated with Pontocerebellar Hypoplasia Type 9 (2026)
- Insight into Haploinsufficiency of the ERBB4 Gene: Expanding the Spectrum of Associated Phenotypes (2026)
- The pivotal role of etiology in managing Non-CAH primary adrenal insufficiency in pediatric and adolescent populations: A Single-Center study (2026)
- Breast cancer subtypes in CHEK2, ATM, and other non-BRCA germline carriers in Turkey (2026)
- A novel pathogenic variant of the glucocorticoid receptor gene, causing generalized glucocorticoid resistance: a case report and review of the literature (2025)
- The incidence and clinical outcomes following prophylactic risk-reducing salpingo-oophorectomy in BRCA mutation carriers: a single-center retrospective study (2025)
- Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia (2025)
- Severe hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemia (2025)
- Identifying a rare mechanism: double parallel trisomy rescue leading to combined segmental and whole-chromosome mosaicism in an IVF-derived embryo (2025)
- Application of the North American Familial Chylomicronemia Syndrome Score (NAFCS Score) in monogenic hypertriglyceridemia patients: A single-center Turkish cohort study (2025)
- Cross‐Sectional Analysis of Metabolic Tumor Burden Detected by F‐18 FDG PET/CT and Circulating Tumor DNA in Advanced Breast Cancer (2025)
- A Rare Case of Lhermitte Duclos Disease Associated with Somatic PTEN and Germline SUFU Variants (2025)
- A novel pathogenic variant of the glucocorticoid receptor gene, causing generalized glucocorticoid resistance: a case report and review of the literature (2025)
- Expanding the genetic spectrum of short rib polydactyly syndrome: Novel DYNC2H1 variants and functional insights (2025)
- Bi‐Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype–Phenotype Correlations From 61 Patients (2025)
- Next Generation Sequence-Based Targeted Somatic Mutation Analysis in Thyroid Nodules with Pathologically Diagnosed as Indeterminate Cytology (2024)
- SUFU: A potential novel gene responsible for Lhermitte Duclos disease (2024)
- Next generation sequence-based targeted somatic mutation analysis in thyroid nodules with pathologically diagnosed as indeterminate cytology (2024)
- Long-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency (2024)
- Uniparental Disomy of Chromosome 4: A Case of Whole Chromosome UPD Presenting with LRBA Deficiency (2024)
- P.126: Recurrence of aa amyloidosis in kidney transplant recipients. (2024)
- Long-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency (2024)
- A complex t(15;22;17)(q22;q11.2;q21) variant of APL (2024)
- Clinical and molecular evaluation of <i>MEFV</i> gene variants in the Turkish population: a study by the National Genetics Consortium (2022)
- Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium (2022)
- Prenatal diagnosis of a case with tetrasomy 9p confirmed by cytogenetics, FISH, microarray analysis and review (2022)
- Complex karyotype with double Philadelphia chromosome and T315I mutation results in blastic phase and extensive extramedullary infiltration in a chronic myeloid leukemia patient (2022)
- Clinicopathological characteristics, genetics and prognosis of patients with myeloid sarcoma: a single-center study. (2022)
- HETEROZİGOT FAMİLYAL HİPERKOLESTEROLEMİ EGE TIP DENEYİMİ (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)
- The Effectiveness of Mesenchymal Stem Cell Therapy on COVID-19 Patients at Intensive Care Unit: Case Control Study (2022)
- 20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey (2021)
- 11Q Oktozomisi Saptanan Nadir Aml Olgusu (2021)
- Karyotip Analizi 46,xy,der(21)T(1;21)(Q11-12;p11-13) Saptanan Mds Tanılı Olgu (2021)
- Prenatal Diagnosis of a Case with Tetrasomy 9p Confirmed by Cytogenetics, FISH, Microarray Analysis and Review (2021)
- 20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey (2021)
- Miyelodisplastik Sendromda Kromozomal Yeniden Düzenlemelerin Tespiti: Standart Karyotip Ve Fish Yöntemleri Arasinda Karşilaştirma (2021)
- Association of arms2 gene rs10490924 and htra1 gene rs11200638 polymorphisms with exudative age-related macular degeneration in western aegean population of Turkey (2021)
- Investigation of genotype–phenotype correlation in patients with AZF microdeletion in a single‐reference centre (2021)
- Comparison of indications and results of prenatal invasive diagnostic tests before and after the implementation of the use of cell-free fetal DNA: a tertiary referral center experience. (2020)
- Akut miyeloid lösemi (AML) hastalarında sitogenetik, moleküler sitogenetik, moleküler genetik ve klinik sonuçların retrospektif analizi; tek merkezden 4 yıllık veri analizi (2020)
- Akut miyeloid lösemi (AML) hastalarında sitogenetik, moleküler sitogenetik, moleküler genetik ve klinik sonuçların retrospektif analizi; tek merkezden 4 yıllık veri analizi (2020)
- Genetik Tabanlı Tanı ve Tarama Testlerine Yaklaşım (2020)
- Co-occurrences of polymorphic heterochromatin regions of chromosomes and effect on reproductive failure. (2020)
- The effects of IGF-1 and erythropoietin on apoptosis and telomerase activity in necrotizing enterocolitis model (2020)
- Çocukluk çağı akut lenfoblastik lösemide FISH yöntemi ile kromozomal yeniden düzenlenmelerin tespiti (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)
- The effects of IGF-1 and erythropoietin on apoptosis and telomerase activity in necrotizing enterocolitis model (2020)
- Submicroscopic insertion of PML segment into RARA on chromosome 17q resulting a very rare variant of PML-RARA fusion in acute promyelocytic leukemia (2020)
- NF1 TÜM GEN DELESYONU SAPTANAN DİSMORFİK BİR NÖROFİBROMATOZİS OLGUSU (2020)
- DRD4 genotyping may differentiate symptoms of attention-deficit/hyperactivity disorder and sluggish cognitive tempo (2020)
- The effects of IGF-1 and erythropoietin on apoptosis and telomerase activity in necrotizing enterocolitis model. (2020)
- Yavaş Bilişsel Tempo ve Dikkat Eksikliği Hiperaktivite Bozukluğu: Benzerlikleri ve Farklılıkları (2020)
- Konjenital Hipogonadotropik Hipogonadizm (2019)
- Genotyping of DRD4 and DAT1 Genes May Differentiate Symptoms of Attention-Deficit/ Hyperactivity Disorder and Sluggish Cognitive Tempo (2019)
- Genotyping of DRD4 and DAT1 Genes May Differentiate Symptoms of Attention Deficit Hyperactivity Disorder and Sluggish Cognitive Tempo (2019)
- Akut Myeloblastik Lösemi’de Kromozomal Yeniden Düzenlemelerin Tespiti: Standart Sitogenetik ve FISH Yöntemleri Arasında Bir Karşılaştırma (2019)
- Vertebral Anomalilerin Belirgin Olduğu İskelet Displazileri (2019)
- A primary ovarian failure case with de novo t(X;10) translocation (2019)
- Co-occurrences of polymorphic heterochromatin regions of chromosomes and effect on reproductive failure (2019)
- CHROMOSOMAL MICROARRAY EXPERIENCE OF 94 CASES: INITIATE DIFFICULTIES AND PROGRESSION (2019)
- Myelodisplastik Sendrom Tanısında Karyotip ve FISH Analizlerinin Kullanımının Değerlendirilmesi (2019)
- PRENATAL DIAGNOSIS OF A FETUS CARRYING inv(12): CASE REPORT (2019)
- Genotyping of DRD4 and DAT1 genes may differentiate symptoms of ADHD and sluggish cognitive tempo (2019)
- PREIMPLANTATION GENETIC DIAGNOSIS FOR T(2;5) (q37.1;q35.1): CASE REPORT (2019)
- Cytogenetic analysis of miscarriage materials of couples with recurrent pregnancy loss in a tertiary center (2019)
- Cytogenetic analysis of miscarriage materials of couples with recurrent pregnancy loss at a high-volume tertiary center (2019)
- PRENATAL DÖNEMDE TANI ALAN NADİR BİR OLGU: NON-MOZAİK TETRAZOMİ 9P (2018)
- Dilşah (2018)
- KML ÖN TANILI OLGULARDA SİTOGENETİK VE FISHSONUÇLARININ DEĞERLENDİRİLMESİ (2018)
- Prevalence of Y microdeletions in Turkish azoospermia or oligospermia patients (2018)
- TIBBİ GENETİĞİN TARİHÇESİ (2017)
- Bölüm 2: Tıbbi Genetikte Kullanılan Yöntemler (2017)
- Tıbbi Genetiğin Tarihçesi (2017)
- Evaluation Of Immunoglobulin Heavy Chain Region Deletions In Chronic Lymphocyte Leukemia (2017)
- PRENATAL DIAGNOSIS OF A FETUS CARRYING INV (12): CASE REPORT (2017)
- Tetrasomy Xq in a Primary Infertile Case (2017)
- RING CHROMOSOME 3 IN A CASE WITH MICROCEPHALY ANDGROWTH RETARDATION (2017)
- KANSER (2017)
- PRADER-WILLI VE ANGELMAN SENDROMU’NDA METİLASYON VE FISH SONUÇLARININ DEĞERLENDİRİLMESİ (2017)
- Tıbbi Genetiğin Tarihçesi (2017)
- PRENATAL DIAGNOSIS IN SINGLE GENE DISORDERS: EGEUNIVERSITY EXPERIENCE IN 497 CASES (2017)
- Whole-genome gene expression analysis in urine samples of patients with prostate cancer and benign prostate hyperplasia (2017)
- Hücre Döngüsü, Döngü Kontrol Genleri, DNA Tamir Mekanizmaları ve Apoptozis (2017)
- CHROMOSOMAL MICROARRAY EXPERIENCE OF 94 CASES:INITIATE DIFFICULTIES AND PROGRESSION (2017)
- PREIMPLANTATION GENETIC DIAGNOSIS FOR T(25)(q37.1q35.1): CASE REPORT (2017)
- Tetrasomy Xq in a Primary Infertile Case (2017)
- PRENATAL DİAGNOSİS PALLISTER KILLIAN SYNDROME MOSAİC TETROSMY 12P (2016)
- Areview of 20 year experience with prenatal diagnosis records 9297 cases from Turkey (2016)
- Prenatal Tanı ve Uygulamaları (2016)
- Marker kromozom tesbit edilen olgunun konvansiyonel sitogenetik ve mikroarray ile incelenmesi (2016)
- AKUT MYELOİD LÖSEMİ AML ÖN TANILI OLGULARINSİTOGENETİK SONUÇLARININ RETROSPEKTİF OLARAKDEĞERLENDİRİLMESİ (2016)
- AKUT MYELOİD LÖSEMİ AML ÖN TANILI OLGULARIN FISHTESTLERİNİN ANALİZİ (2016)
- MİYELODİSPLASTİK SENDROM MDS ÖN TANILI OLGULARDAİNCELENEN FISH TESTLERİNİN DEĞERLENDİRİLMESİ (2016)
- Marker Kromozomu Tespit Edilen Olgunun Konvansiyonel Sitogenetik ve Mikroarray ile incelenmesi (2016)