Travaux scientifiques

Doç. Dr. Altuğ Koç

101 publications. La source de l’information est indiquée à côté de chaque publication.

Retour au profil

  1. Clinical and Genetic Heterogeneity of Congenital Myasthenic Syndromes: Insights From a Large Cohort

    Neurology and Clinical Neuroscience, 2026

    DOI 10.1111/ncn3.70057 Texte intégral en libre accèsSource : ORCID

  2. Symptom-based classification of 16p11.2 copy number variations underlying the multidimensional autism spectrum disorder phenotype using machine learning methods

    Research in Autism, 2026

    DOI 10.1016/j.reia.2026.202865 Texte intégral en libre accèsSource : OpenAlex

  3. MCPH1 and DNA Damage Response Pathway Genes as Candidate Susceptibility Loci in Hereditary Breast Cancer

    Diagnostics, 2026

    DOI 10.3390/diagnostics16182967 PMID 42793752 Texte intégral en libre accèsSource : ORCID

  4. Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single‐Center Experience

    Annals of Human Genetics, 2026

    DOI 10.1111/ahg.70028 PMID 41084934 Source : ORCID

  5. Characterization of the molecular and clinical features of Multilocus Inherited Neoplasia Allelic Syndrome (MINAS) cases in the Turkish population

    Familial Cancer, 2026

    DOI 10.1007/s10689-026-00577-w PMID 42258060 1 citation (Europe PMC) Source : ORCID

  6. Prenatal Diagnosis of HSPG2-Related Dyssegmental Dysplasia: The First Report From Turkey

    American Journal of Medical Genetics Part A, 2025

    DOI 10.1002/ajmg.a.64152 PMID 40503612 Source : ORCID

  7. Investigation of Epidermal Growth Factor Receptor Pathway Related, Exosomal miRNAs in Non-Small Cell Lung Cancer Cases

    Journal of Basic and Clinical Health Sciences, 2025

    DOI 10.30621/jbachs.1595106 Texte intégral en libre accèsSource : ORCID

  8. Effects of VDR and CYP24A1 gene polymorphisms on the outcome of supraglottic larynx cancer.

    PubMed, 2024

    DOI 10.26355/eurrev_202403_35720 PMID 38567579 1 citation (Europe PMC) Source : OpenAlex

  9. Prognostic and predictive role of liquid biopsy in lung cancer patients

    Frontiers in Oncology, 2024

    DOI 10.3389/fonc.2023.1275525 PMID 38304031 3 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  10. Clinical and Molecular Analysis in Patients with Peutz-Jeghers Syndrome

    Turkish Journal of Gastroenterology, 2024

    DOI 10.5152/tjg.2024.23262 PMID 39115133 2 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  11. Imagawa-Matsumoto Syndrome: The First Case From Turkey

    Noropsikiyatri Arsivi, 2024

    DOI 10.29399/npa.28400 PMID 39258127 2 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  12. New treatment alternatives for primary and metastatic colorectal cancer by an integrated transcriptome and network analyses

    Scientific Reports, 2024

    DOI 10.1038/s41598-024-59101-8 PMID 38627442 5 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  13. Results of karyotype analysis and 22q11.2 (DiGeorge Syndrome critical region) deletion investigation in fetal cardiac system anomalies

    Aegean Journal of Obstetrics and Gynecology, 2023

    DOI 10.46328/aejog.v5i2.140 1 citation (OpenAlex) Texte intégral en libre accèsSource : ORCID

  14. Carrier Rates of Phenylketonuria, Biotinidase Deficiency and Cystic Fibrosis in Turkey,Türkiye’de Fenilketonüri, Biotinidaz Eksikliği ve Kistik Fibrozis Taşıyıcı Oranları

    Gazi Medical Journal, 2023

    DOI 10.12996/gmj.2023.85 Texte intégral en libre accèsSource : ORCID

  15. The effect of progesterone supplementation in women with threatened miscarriage on fetal fraction in non-invasive prenatal testing: A matched case-control study

    Journal of Gynecology Obstetrics and Human Reproduction, 2023

    DOI 10.1016/j.jogoh.2023.102662 PMID 37659577 1 citation (Europe PMC) Source : ORCID

  16. Glomerulonefritlerde JAK2 Gen Mutasyonu Sıklığının Araştırılması

    The Anatolian Journal of General Medical Research, 2023

    DOI 10.4274/terh.galenos.2021.55899 Texte intégral en libre accèsSource : OpenAlex

  17. High Risk of Gestational Trophoblastic Neoplasia Development in Recurrent Hydatidiform Moles with NLRP7 Pathogenic Variations

    Balkan Journal of Medical Genetics, 2022

    DOI 10.2478/bjmg-2022-0025 PMID 37265977 2 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  18. Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation sequencing panel and MLPA analysis in Turkey

    Cancer Genetics, 2022

    DOI 10.1016/j.cancergen.2022.02.006 PMID 35220195 11 citations (OpenAlex) Source : OpenAlex

  19. Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

    Functional and Integrative Genomics, 2022

    DOI 10.1007/s10142-021-00819-3 PMID 35098403 10 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  20. Clinical, genetic characteristics and treatment outcomes of children and adolescents with osteogenesis imperfecta: a two-center experience

    Connective Tissue Research, 2022

    DOI 10.1080/03008207.2021.1932853 PMID 34107839 9 citations (Europe PMC) Source : ORCID

  21. In silico identification of novel biomarkers for key players in transition from normal colon tissue to adenomatous polyps

    PLoS ONE, 2022

    DOI 10.1371/journal.pone.0267973 PMID 35486660 2 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  22. Late onset Bartter syndrome: Bartter syndrome type 2 presenting with isolated nephrocalcinosis and high parathyroid hormone levels mimicking primary hyperparathyroidism

    Journal of Pediatric Endocrinology and Metabolism, 2022

    DOI 10.1515/jpem-2022-0154 PMID 35952717 4 citations (Europe PMC) Source : ORCID

  23. An Unexpected Cause of Ptosis: 22q11.2 Duplication Syndrome

    Neurology India, 2021

    DOI 10.4103/0028-3886.310061 PMID 33642297 1 citation (OpenAlex) Source : OpenAlex

  24. The relation between distant metastasis and genetic change type in stage IV lung adenocarcinoma patients at diagnosis

    The clinical respiratory journal, 2021

    DOI 10.1111/crj.13284 PMID 32981210 Source : Europe PMC

  25. Can the Cell-free DNA Test Predict Placenta Accreta Spectrum or Placenta Previa Totalis?

    Zeitschrift für Geburtshilfe und Neonatologie, 2021

    DOI 10.1055/a-1579-1338 PMID 34433209 4 citations (OpenAlex) Source : OpenAlex

  26. TardbpGene with a Mutation with Spastic Speech Disorder

    Annals of Neurology, 2021

    Source : ORCID

  27. LATE-ONSET BARTTER SYNDROME TYPE 2 PRESENTING WITH ISOLATED NEPHROCALCINOSIS WITHOUT HYPOKALEMIC ALKALOSIS MIMICKING PRIMARY HYPERPARATHYROIDISM

    Pediatric Nephrology, 2021

    Source : ORCID

  28. PCR-Free Methodology for Detection of Single-Nucleotide Polymorphism with a Cationic Polythiophene Reporter

    ACS Sensors, 2021

    DOI 10.1021/acssensors.0c02130 PMID 33621051 7 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  29. Selective bilateral vestibular neuropathy in a Turkish CMT1B family with a novel MPZ mutation

    Neurology: Clinical Practice, 2021

    DOI 10.1212/cpj.0000000000000930 PMID 33842081 1 citation (Europe PMC) Texte intégral en libre accèsSource : ORCID

  30. Can fetal fractions in the cell-free DNA test predict the onset of fetal growth restriction?

    Journal of Perinatal Medicine, 2020

    DOI 10.1515/jpm-2020-0010 PMID 32242833 7 citations (Europe PMC) Source : ORCID

  31. Could high levels of cell-free DNA in maternal blood be associated with maternal health and perinatal outcomes?

    Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology, 2020

    DOI 10.1080/01443615.2019.1671324 PMID 31769709 3 citations (Europe PMC) Source : Europe PMC

  32. Evaluation of chromosomal abnormalities and Y-chromosome microdeletions in 1696 Turkish cases with primary male infertility: A single-center study

    Urology Research and Practice, 2020

    DOI 10.5152/tud.2019.19156 PMID 32125967 4 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  33. The Efficiency of SNP-Based Microarrays in the Detection of Copy-Neutral Events at 15q11.2 and 11p15.5 Loci

    Journal of Pediatric Genetics, 2020

    DOI 10.1055/s-0039-1698420 PMID 31976138 3 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  34. Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping

    Cytogenetic and Genome Research, 2020

    DOI 10.1159/000509214 PMID 32599602 4 citations (Europe PMC) Source : ORCID

  35. Three Cases with Familial Short Stature: Leri-Weill Syndrome

    58th Annual ESPE Meeting (ESPE 2019), 2019

    Source : OpenAlex

  36. New Insight of Tumor Microenvironment in Non-Small Cell Lung Cancer

    Journal of Basic and Clinical Health Sciences, 2019

    DOI 10.30621/jbachs.2019.625 3 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  37. Targeted fetal cell-free DNA screening for aneuploidies in 4,594 pregnancies: Single center study

    Molecular Genetics & Genomic Medicine, 2019

    DOI 10.1002/mgg3.678 PMID 31070015 9 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  38. First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss

    Turkish Archives of Otorhinolaryngology, 2019

    DOI 10.5152/tao.2019.4320 PMID 31620696 2 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  39. Molecular genetic evaluation of NLRP3, MVK and TNFRSF1A associated periodic fever syndromes

    International Journal of Immunogenetics, 2019

    DOI 10.1111/iji.12431 PMID 31135083 6 citations (Europe PMC) Source : ORCID

  40. Targeted Next-Generation Sequencing of MLH1, MSH2, and MSH6 Genes in Patients with Endometrial Carcinoma under 50 Years of Age

    Balkan Medical Journal, 2019

    DOI 10.4274/balkanmedj.2018.0922 PMID 30238922 3 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  41. cfDNA in exhaled breath condensate (EBC) and contamination by ambient air: toward volatile biopsies

    Journal of Breath Research, 2019

    DOI 10.1088/1752-7163/ab17ff PMID 30970343 7 citations (Europe PMC) Source : ORCID

  42. A case with central adrenal insufficiency and early onset obesity: Proopiomelanocortin deficiency

    Hormone Research in Paediatrics, 2019

    Source : ORCID

  43. A toddler with a novel LEPR mutation

    Hormones, 2019

    DOI 10.1007/s42000-019-00097-6 PMID 30778850 10 citations (Europe PMC) Source : ORCID

  44. Dual overlapping phenotype recessively inherited due to paternal unipaternal disomy of chromosome 2 (pUPD2) in a patient

    European Journal of Human Genetics, 2019

    Source : ORCID

  45. Initial Next-Generation Sequencing (NGS) Results of Alport Syndrome

    Journal of Basic and Clinical Health Sciences, 2019

    DOI 10.30621/jbachs.2019.719 3 citations (OpenAlex) Texte intégral en libre accèsSource : ORCID

  46. Spinal muscular atrophy results and comparison of commonly used methods

    Gazi Medical Journal, 2019

    DOI 10.12996/gmj.2019.98 1 citation (OpenAlex) Texte intégral en libre accèsSource : ORCID

  47. Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY)

    Journal of Pediatric Endocrinology and Metabolism, 2018

    DOI 10.1515/jpem-2018-0184 PMID 30447144 25 citations (Europe PMC) Source : OpenAlex

  48. An unusual cause of cavitating leukoencephalopathy: ethylmalonic encephalopathy

    Acta Neurologica Belgica, 2018

    DOI 10.1007/s13760-018-0902-3 PMID 29464661 4 citations (OpenAlex) Source : OpenAlex

  49. Fetal HLA-G alleles and their effect on miscarriage

    Advances in Clinical and Experimental Medicine, 2018

    DOI 10.17219/acem/69692 PMID 29809322 6 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  50. Liquid biopsy for EGFR mutations in non-small cell lung cancer cases by RT-PCR

    European Respiratory Journal, 2018

    DOI 10.1183/13993003.congress-2018.pa1757 1 citation (OpenAlex) Source : ORCID