A5000214730- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Renal and related cancers
- Hemoglobinopathies and Related Disorders
- Amino Acid Enzymes and Metabolism
- Metabolism and Genetic Disorders
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Spondyloarthritis Studies and Treatments
- Urological Disorders and Treatments
- BRCA gene mutations in cancer
- Vestibular and auditory disorders
- Congenital heart defects research
- Williams Syndrome Research
- Connective tissue disorders research
- Hearing, Cochlea, Tinnitus, Genetics
- Hereditary Neurological Disorders
- Advanced biosensing and bioanalysis techniques
- Genetic Neurodegenerative Diseases
- Rheumatoid Arthritis Research and Therapies
- Connexins and lens biology
- Chromosomal and Genetic Variations
- Congenital Ear and Nasal Anomalies
Samsun University
2023-2024
Isparta University of Applied Sciences
2021-2023
Çanakkale Onsekiz Mart Üniversitesi
2017-2022
Nagahama City Hospital
2022
Intergen (Turkey)
2022
Yüksek İhtisas Üniversitesi
2021
The cover image is based on the article Utility of Optical Genome Mapping in Repeat Disorders by Mehmet Burak Mutlu et al., https://doi.org/10.1111/cge.14633 .
Abstract Objectives In congenital hemolytic anemias (CHA), it is not always possible to determine the specific diagnosis by evaluating clinical findings and conventional laboratory tests. The aim of this study evaluate utility next‐generation sequencing (NGS) clinical‐exome‐based copy number variant (CNV) analysis in patients with CHA. Methods One hundred forty‐three CHA cases from 115 unrelated families referred for molecular were enrolled study. Molecular was performed using two different...
Genomic repeat sequences are patterns of nucleic acids that exist in multiple copies throughout the genome. More than 60 Mendelian disorders caused by expansion or contraction these repeats. Various specific methods for determining tandem variations have been developed. However, highly to genomic region being studied and sometimes require specialized tools. In this study, we investigated use Optical Genome Mapping (OGM) as a diagnostic tool detecting disorders. We evaluated 19 patients with...
Objective: Ankylosing spondylitis (AS) is defined as both an auto-immune and autoinflammatory illness. Human leukocyte antigen B27 (HLA-B27), which extensively employed in the diagnosis of chronic inflammatory diseases, basic laboratory parameter axial spondylarthritis including AS. Systemic immune-inflammation index (SII) pan-immune-inflammation value (PIV), obtained by formulating complete blood count parameters, are promising biomarkers that reflect systemic inflammation local immune...
Grange syndrome (OMIM 602531) is characterized by a constellation of symptoms hypertension, stenosis, or occlusion different arteries (including the cerebral, renal, abdominal, and coronary vessels) with variable occurrence brachysyndactyly, bone fragility, congenital heart defects. Learning disabilities were also reported in some cases. Biallelic pathogenic variants YY1AP1 are associated syndrome. Only 14 individuals this ultra-rare (12 them molecularly confirmed) have hitherto been...
Rearrangements that occur mainly through the non-allelic homologous recombination (NAHR) during maternal meiosis in short arms of chromosome 8 is relatively associated with various clinical spectrum. The objective this study was to report cytogenetics and molecular characterization a mental motor retarded boy arm rearrangements [invdupdel(8p)] current case report. Subjects methods: We an 11-year-old scoliosis, intellectual disability, mental-motor retardation characteristic facial features....
Hemoglobinopathies are the most common single-gene disorders, and β-thalassemia (β-thal) imposes a tremendous health burden on Turkey. Thus, premarital carrier screening is obligatory in Turkey, as it some other countries. As result of this mandatory procedure, at routine clinical checkups, many individuals who had undergone but did not have any symptoms and/or hematological findings, compulsorily been required to undergo further evaluation due abnormal levels hemoglobin (Hb) fractions (Hb...
Abstract Background Early-onset breast cancer (EOBC) is a specific condition that affects women under the age of 45. BRCA pathogenic/likely pathogenic (P/LP) germline variants have been demonstrated to be harbored in subgroup EOBC individuals, and -positive genetic result offers an option ensure more specified therapeutic implications. Establishing comprehensive BRCA1/2 testing, including both detection small-scale mutations large genomic rearrangements (LGRs), needed for risk assessment...
SUMMARY OBJECTIVE: Autosomal dominant polycystic kidney disease is an inherited disorder with mutations in polycystin-1 or polycystin-2. recessive a severe form of that characterized by enlarged kidneys and congenital hepatic fibrosis. Mutations at PKHD1 are responsible for all typical forms autosomal disease. METHODS: We evaluated the children diagnosed between October 2020 May 2022. The diagnosis was established family history, ultrasound findings, and/or genetic analysis. demographic,...
Introduction: Chromosomal indels are relatively common cytogenetic abnormalities. Nonetheless, clinical outcomes depend on the location, size and genes in deletion or duplication regions. The zona pellucida is an extracellular matrix that surrounds oocyte early embryo. It composed primarily of three four glycoproteins with various functions during fertilization preimplantation development. protein encoded by ZP3(Zona pellucida3) gene a structural component primary binding induction sperm...
It is reported that 60% of congenital bilateral sensorineural hearing loss caused by genetic factors, and half at a later stage due to single gene mutation.In this study; it aimed investigate the molecular etiology GJB2 mutations in patients with loss.Forty-six who had 90 decibels above-bilateral were included.DNAs isolated from peripheral blood-EDTA samples.By using PCR primers, specific for 1st 2nd regions, changes selected regions investigated DNA sequence analysis.When 46 (5 female, 41...