Scientific work

Prof. Dr. Berk Özyılmaz

110 publications. The source of the information is stated next to each publication.

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  1. The First Case of Hemoglobin Görwihl [α2β25(A2) Pro→Ala] Identified in Türkiye

    Turkiye Klinikleri Journal of Case Reports, 2022

    DOI 10.5336/caserep.2021-86119 Open-access full textSource: OpenAlex

  2. Monogenik Obezite Ön Tanısı ile İncelenen Hastaların Klinik, Laboratuvar ve Genetik Sonuçlarının Değerlendirilmesi

    Güncel Pediatri, 2021

    DOI 10.4274/jcp.2021.0008 Open-access full textSource: OpenAlex

  3. Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variants

    Neurological Sciences, 2021

    DOI 10.1007/s10072-020-04988-0 PMID 33443663 1 citation (Europe PMC) Source: ORCID

  4. 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

  5. Different Clinical Faces of the Same Gene Mutation: Fragile X Mental Retardation 1 Disorders

    Turkish Journal Of Neurology, 2021

    DOI 10.4274/tnd.2021.58234 Open-access full textSource: ORCID

  6. The relationship between Matrix Metalloproteinase-1 gene promoter (-1607) polymorphism and aggressive periodontitis

    Annals of Clinical and Analytical Medicine, 2021

    DOI 10.4328/acam.20277 Open-access full textSource: ORCID

  7. Association Between Interleukin 1 Beta (IL-1/β) Gene Variation and Temporal Lobe Epilepsy with Hippocampal Sclerosis

    Turkish Journal Of Neurology, 2021

    DOI 10.4274/tnd.2021.70962 1 citation (OpenAlex) Open-access full textSource: ORCID

  8. The histopathologic examination of a second muscle biopsy specimen at a later date may sometimes be the best approach to make a differential diagnosis in neuromuscular disorders

    Turkish Journal of Pathology, 2020

    DOI 10.5146/tjpath.2019.01512 PMID 33432556 3 citations (OpenAlex) Open-access full textSource: OpenAlex

  9. Identification of PCDH19 gene mutations/deletions in patients with early onset epilepsy

    Annals of Indian Academy of Neurology, 2020

    DOI 10.4103/aian.aian_465_19 PMID 32189863 3 citations (Europe PMC) Open-access full textSource: ORCID

  10. SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey

    Molecular Genetics and Metabolism Reports, 2020

    DOI 10.1016/j.ymgmr.2020.100657 PMID 33134083 17 citations (Europe PMC) Open-access full textSource: ORCID

  11. 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) Open-access full textSource: ORCID

  12. 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) Open-access full textSource: ORCID

  13. JAK2V617F , CALR, and MPL515L/K Mutations and Plateletcrit in Essential Thrombocythemia: ASingle Centre's Experience

    International Journal of Clinical Practice, 2020

    DOI 10.1111/ijcp.13834 PMID 33202112 2 citations (Europe PMC) Open-access full textSource: ORCID

  14. Genetic Knowledge of Colorectal Cancer

    Colon Polyps and Colorectal Cancer, 2020

    DOI 10.1007/978-3-030-57273-0_24 2 citations (OpenAlex) Source: ORCID

  15. Genetic knowledge of colorectal cancer

    Colon Polyps and Colorectal Cancer Second Edition, 2020

    Source: ORCID

  16. Renal-Hepatic-Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype

    Journal of pediatric genetics, 2020

    DOI 10.1055/s-0039-1696974 PMID 32341812 4 citations (Europe PMC) Open-access full textSource: ORCID

  17. Fetal Kardiyak Patolojilerin Genetik Yönetimi

    2020

    Source: OpenAlex

  18. A case of spastic paraplegia-15 with a novel pathogenic variant in ZFYVE26 gene

    International Journal of Neuroscience, 2019

    DOI 10.1080/00207454.2019.1653293 PMID 31385551 6 citations (Europe PMC) Source: ORCID

  19. Impact of next‐generation sequencing panels in the evaluation of limb‐girdle muscular dystrophies

    Annals of Human Genetics, 2019

    DOI 10.1111/ahg.12319 PMID 31066050 32 citations (OpenAlex) Source: OpenAlex

  20. A hypomyelinating leukodystrophy with calcification: oculodentodigital dysplasia

    Acta Neurologica Belgica, 2019

    DOI 10.1007/s13760-019-01178-4 PMID 31240666 5 citations (OpenAlex) Source: OpenAlex

  21. 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) Open-access full textSource: ORCID

  22. The Role of Interleukin-1 Beta C-511T as a Modifier Polymorphism in Cryopyrin-associated Periodic Syndromes

    The Journal of Pediatric Research, 2019

    DOI 10.4274/jpr.galenos.2019.93446 Open-access full textSource: ORCID

  23. 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) Open-access full textSource: ORCID

  24. 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

  25. 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

  26. Heterozygous Beta Chain Variant Hemoglobin Pusan: A Rare Case Report in Turkish Population

    Medeniyet Medical Journal, 2019

    DOI 10.5222/mmj.2019.10476 PMID 32821467 Open-access full textSource: ORCID

  27. Ligneous Gingivitis Due to Type I Plasminogen Deficiency in A Hydrocephalic Patient

    Turkiye Klinikleri Journal of Case Reports, 2019

    DOI 10.5336/caserep.2018-64148 1 citation (OpenAlex) Open-access full textSource: ORCID

  28. Phenotypic and Genotypic Properties of Children with Suspicion of Monogenic Obesity

    HORMONE RESEARCH IN PAEDIATRICS, 2019

    Source: ORCID

  29. 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

  30. Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability

    Journal of Pediatric Genetics, 2018

    DOI 10.1055/s-0038-1676583 PMID 30775046 8 citations (OpenAlex) Open-access full textSource: OpenAlex

  31. A Novel De Novo Missense Mutation in HNF4A Resulting in Sulfonylurea-Responsive Maturity-onset Diabetes of the Young

    The Journal of Pediatric Research, 2018

    DOI 10.4274/jpr.60252 1 citation (OpenAlex) Open-access full textSource: ORCID

  32. 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) Open-access full textSource: ORCID

  33. 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

  34. Tek Gen Hastalıklarında Prenatal Tanı

    Turkiye Klinikleri Medical Genetics - Special Topics, 2018

    Source: OpenAlex

  35. The Role of Familial Mediterranean Fever Gene Mutation in Treatment of Infantile Colitis With Resistant Perianal Fistula.

    Archives of rheumatology, 2018

    DOI 10.5606/archrheumatol.2018.6741 PMID 30874249 1 citation (Europe PMC) Open-access full textSource: ORCID

  36. Correlation of phenotype with the CYP21 gene mutation analysis of classic type congenital adrenal hyperplasia due to 21-hydroxylase deficiency

    Journal of Experimental and Clinical Medicine Turkey, 2018

    DOI 10.5835/jecm.omu.35.03.002 1 citation (OpenAlex) Source: ORCID

  37. First Turkish Patient with Feingold Syndrome Type 2 with severe motor mental retardation, epilepsy

    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018

    Source: ORCID

  38. Prenatal diagnosis in a case of 8p inverted duplication deletion syndrome

    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018

    Source: ORCID

  39. QFPCR in Invasive Prenatal Diagnosis: Single Center Experience in Turkey

    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018

    Source: ORCID

  40. Single-Center Experience Of Chromosomal Microarray Analysis In Children With Unexplained Developmental Delay/Intellectual Disability

    EPILEPSIA, 2018

    Source: ORCID

  41. A De Novo Xp11.23 Duplication in a Girl with a Severe Phenotype: Expanding the Clinical Spectrum

    Journal of Pediatric Genetics, 2017

    DOI 10.1055/s-0037-1612598 PMID 29707408 6 citations (OpenAlex) Open-access full textSource: OpenAlex

  42. Experiences in microarray-based evaluation of developmental disabilities and congenital anomalies

    Clinical Genetics, 2017

    DOI 10.1111/cge.12978 PMID 28128450 9 citations (Europe PMC) Source: ORCID

  43. QF-PCR in invasive prenatal diagnosis: a single-center experience in Turkey

    Turkish Journal of Medical Sciences, 2017

    DOI 10.3906/sag-1511-157 PMID 28263482 1 citation (Europe PMC) Open-access full textSource: ORCID

  44. A Novel De Novo Missense Mutation in HNF4A Resulting in Sulfonylurea-Responsive MODY

    Journal of Clinical Research in Pediatric Endocrinology, 2017

    Source: ORCID

  45. A Partıal Deletıon xp Duplıcatıon xq Case Due to Maternal Perıcentrıc Inversıon x Confırmed by Mıcroarray Medical Genetics and Clinical Applications with International Participation

    AYBU AVESIS, 2016

    Source: OpenAlex

  46. An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation

    Journal of Clinical Research in Pediatric Endocrinology, 2015

    DOI 10.4274/jcrpe.1919 PMID 26316442 7 citations (Europe PMC) Open-access full textSource: OpenAlex

  47. Clinical and Biochemical Characteristics of a Female Patient with a Novel Homozygous STAT5B Mutation but Lack of Pulmonary Disease

    54th Annual ESPE, 2015

    Source: OpenAlex

  48. De Novo Produced Anti-Human Leukocyte Antigen Antibodies Relation to Alloimmunity in Patients with Chronic Renal Failure

    Genetic testing and molecular biomarkers, 2015

    DOI 10.1089/gtmb.2014.0294 PMID 25826018 3 citations (Europe PMC) Source: ORCID

  49. ASSOCIATION BETWEEN INTERLEUKIN 1 BETA (IL-1β) GENE VARIATION AND TEMPORAL LOBE EPILEPSY WITH HIPPOCAMPAL SCLEROSIS

    EPILEPSIA, 2015

    Source: ORCID

  50. Report of a family with craniofrontonasal syndrome

    Clinical dysmorphology, 2015

    DOI 10.1097/mcd.0000000000000067 PMID 25486017 5 citations (Europe PMC) Source: ORCID