Search Results - "Boga, Ibrahim"
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The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID)
Published in Scientific reports (15-04-2021)“…Next Generation Sequencing (NGS) has uncovered hundreds of common and rare genetic variants involved in complex and rare diseases including immune deficiencies…”
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Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS‐CoV‐2 from 946 whole‐exome sequencing data in the Turkish population
Published in Journal of medical virology (01-11-2022)“…Heterogeneity in symptoms associated with COVID‐19 in infected patients remains unclear. ACE2 and TMPRSS2 gene variants are considered possible risk factors…”
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Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia
Published in Clinical case reports (01-09-2020)“…The lack of awareness of patient risk factors, failure to obtain adequate family history, was discussed by clinical experience in prenatal testing of…”
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4
Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey
Published in Breast (Edinburgh) (01-10-2022)“…BRCA1/2 mutations play a significant role in cancer pathogenesis and predisposition particularly in breast, ovarian and prostate cancers. Thus, germline…”
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A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey
Published in European journal of breast health (01-07-2023)“…Breast cancer (BC) is the most common cancer type in women and may be inherited, mostly in an autosomal dominant pattern. The clinical diagnosis of BC relies…”
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Abstract 4264: Liquid biopsy and FFPE tissue based somatic BRCA1/2 variant screening in breast and ovarian cancer
Published in Cancer research (Chicago, Ill.) (15-08-2020)“…Abstract Next generation sequencing (NGS) has widened its use since it provides highly precise and accurate genetic testing with reasonable costs in tumor…”
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Treatment, classification, and review of Tapia syndrome
Published in The Journal of craniofacial surgery (01-01-2010)“…Tapia syndrome was first described by Antonio Garcia Tapia in 1904. Then, he believed that the existing lesion, resulting in some neurologic symptoms, was…”
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Abstract 3602: Validation and implementation of next-generation sequencing in liquid biopsies by a novel NGS platform: Focus on non-small cell lung cancer
Published in Cancer research (Chicago, Ill.) (01-07-2018)“…Abstract Introduction: Liquid biopsy as a novel and non-invasive test for the surveillance of cancer is rapidly growing, by next-generation sequencing (NGS)…”
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Diagnostic utility of next generation sequencing for somatic variants in cancer: A seven year cumulative cohort
Published in Journal of clinical oncology (01-06-2023)“…e15060 Background: Next generation sequencing (NGS) makes it possible to identify the specific molecular biomarkers to define patient eligibility for targeted…”
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Abstract 3346: Changes of gut microbiota in FAP and UC that might harbor colorectal cancer carcinogenesis
Published in Cancer research (Chicago, Ill.) (15-08-2020)“…Abstract Inflammatory bowel diseases, Familial adenomatous polyposis(FAP) and colorectal cancer(CRC) are associated with alterations of the intestinal…”
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Short Lasting Pediatric Laparoscopic Surgery: Are Muscle Relaxants Necessary? Endotracheal Intubation vs Laryngeal Mask Airway
Published in Journal of pediatric surgery (01-11-2017)“…Abstract Purpose Technical advances have led to lower insufflation pressures and shorter anesthesia times for children undergoing laparoscopic procedures In…”
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Integration of Liquid Biopsies into Clinical Laboratory Applications via NGS in Cancer Diagnostics
Published in Clinical laboratory (Heidelberg) (01-01-2020)“…Next Generation Sequencing is one of the latest advances in molecular testing and clinical laboratory applications. Next Generation Sequencing techniques…”
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13
Percutaneous internal ring suturing is a safe and effective method for the minimal invasive treatment of pediatric inguinal hernia: Experience with 250 cases
Published in Journal of pediatric surgery (01-08-2016)“…Abstract Background/Purpose Percutaneous internal ring suturing (PIRS) is a minimally invasive method for repair of pediatric inguinal hernia. In this study we…”
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Abstract 1972: The significance of liquid biopsy in colorectal cancer via GeneReader NGS Systems
Published in Cancer research (Chicago, Ill.) (15-08-2020)“…Abstract Background: In terms of precision medicine, not only tumoral tissue samples but also with liquid biopsy for somatic variants detection, have been used…”
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15
The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory
Published in BioMed research international (01-01-2018)“…Introduction. Primary immune deficiency disorders (PIDs) are a group of diseases with profound defects in immune cells. The traditional diagnostics have…”
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Meta-analysis and single-center experience on the comprehensive genomic characterization and landscape of BRCA1 and BRCA2 in Turkey
Published in Journal of clinical oncology (20-05-2020)“…Abstract only e13611 Background: The detection of BRCA1 and BRCA2 mutations both somatic and germ-line became essential for the clinical management strategies…”
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Clinical assessment of HRD scoring in relation to PARPi response in terms of statistical guidance on reporting results for CDx tests evaluation
Published in Journal of clinical oncology (01-06-2023)“…e17597 Background: Homologous recombination deficiency (HRD) is a tumor characteristic that can be assessed via different biomarkers such as individual…”
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BRCA mutation characteristics in a series of index cases of breast cancer selected independent of family history
Published in The breast journal (01-09-2019)“…Certain genetic predisposition factors, such as BRCA1 and BRCA2 mutations play a pivotal role in familial breast cancer development in both males and females…”
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An Updated Review on Recent Advances in the Usage of Novel Therapeutic Peptides for Breast Cancer Treatment
Published in International journal of peptide research and therapeutics (02-03-2023)“…Breast cancer is among the most frequently occurring cancer for women globally. Conventional therapies for breast cancer are found to be expensive and cause…”
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A Rare Pathological Phenotype of Endometrioid Serous and Clear-Cell Ovarian Cancer with PIK3CA Mutations in Relation to The Excellent Response of Alpelisib
Published in Genes (01-08-2023)“…Patients with metastatic ovarian cancer who develop resistance to standard therapy with or without platinum need to search for other therapeutic choices…”
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