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View article: A Comprehensive Diagnostic Assessment of Thyroid Nodules Utilizing Scintigraphy and Telomere Lengths (T/S ratios)
A Comprehensive Diagnostic Assessment of Thyroid Nodules Utilizing Scintigraphy and Telomere Lengths (T/S ratios) Open
Tc-99m MIBI scintigraphy demonstrates reasonable diagnostic accuracy for identifying malignancy in thyroid nodules. Contrary to limited reports, telomere length measurements may not be a reliable method for predicting thyroid malignancy. L…
View article: O-12 A CASE OF DIABETES ASSOCIATED WITH A DE NOVO PAX4 MUTATION AND CONCURRENT SMAD6 GENE MUTATION
O-12 A CASE OF DIABETES ASSOCIATED WITH A DE NOVO PAX4 MUTATION AND CONCURRENT SMAD6 GENE MUTATION Open
Introduction Monogenic diabetes constitutes approximately 1-5 % of all diabetes cases. While there is substantial information available about the more common MODY subtypes, the rarer subtypes remain much less understood. In this report, we…
View article: A rare variant in PIEZO1 causes generalised lymphatic dysplasia, which is manifested by atypical genital swelling
A rare variant in PIEZO1 causes generalised lymphatic dysplasia, which is manifested by atypical genital swelling Open
View article: Expanding the Genetic and Phenotypic Spectrum of Mowat‐Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion
Expanding the Genetic and Phenotypic Spectrum of Mowat‐Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion Open
Mowat–Wilson syndrome (MWS) is a complex disorder caused by heterozygous ZEB2 gene variations creating haploinsufficiency. The main clinical features are evolving facial dysmorphism, intellectual disability, eye and brain malformations, an…
View article: Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey
Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey Open
View article: CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow
CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow Open
Intellectual and developmental disabilities result from abnormal nervous system development. Over a 1,000 genes have been associated with intellectual and developmental disabilities, driving continued efforts toward dissecting variant func…
View article: Spinal Muscular Atrophy Carrier Screening Program: Awareness and Attitude of Healthcare Professionals in Turkey
Spinal Muscular Atrophy Carrier Screening Program: Awareness and Attitude of Healthcare Professionals in Turkey Open
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease caused by mutations in the SMN1 gene, leading to progressive muscle weakness. The global incidence of SMA is approximately 1–3 per 10,000 live births, and the carrier frequenc…
View article: Genetic influence on urinary vitamin D binding protein excretion and serum levels: a focus on rs4588 C>A polymorphism in the GC gene
Genetic influence on urinary vitamin D binding protein excretion and serum levels: a focus on rs4588 C>A polymorphism in the GC gene Open
Introduction Vitamin D binding protein (VDBP) plays a crucial role in vitamin D transport and metabolism. The rs4588-A polymorphism of the GC gene, encoding VDBP, has been associated with altered serum VDBP and 25-hydroxyvitamin D (25OHD) …
View article: Invited Speaker Abstracts
Invited Speaker Abstracts Open
Nature abounds in self-assembling systems that include cell membranes, actin fibres and the flagellum rotor.Nature inspired design attempts to learn from the organizing principles of these structures while introducing novel molecular desig…
View article: Anemia and thrombocytopenia due to a novel <scp><i>BRPF1</i></scp> variant in a family from Çanakkale with intellectual disability and dysmorphic facies: Case report and review of the literature
Anemia and thrombocytopenia due to a novel <span><i>BRPF1</i></span> variant in a family from Çanakkale with intellectual disability and dysmorphic facies: Case report and review of the literature Open
Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) (MIM#617333) is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability (ID), and dysmorphic facial features du…
View article: Reanalysis of genetic variants detected by next generation sequencing in Parkinson’s disease with two novel variants
Reanalysis of genetic variants detected by next generation sequencing in Parkinson’s disease with two novel variants Open
The authors have requested that this preprint be removed from Research Square.
View article: Evaluating of colchicine use patterns and attack frequency of <scp>familial Mediterranean fever</scp> patients in the <scp>COVID</scp>‐19 pandemic
Evaluating of colchicine use patterns and attack frequency of <span>familial Mediterranean fever</span> patients in the <span>COVID</span>‐19 pandemic Open
Familial Mediterranean Fever (FMF) is an autosomal recessive and dominant inherited disease and is the most common autoinflamma-tory disease characterized by recurrent episodes of fever, arthritis, and polyserositis.1Colchicine is the main…
View article: Fragile-X-associated Tremor/Ataxia Syndrome (FXTAS) in a Female with FMR1 Premutation: Case Report
Fragile-X-associated Tremor/Ataxia Syndrome (FXTAS) in a Female with FMR1 Premutation: Case Report Open
ÖzPeople carrying a fragile-X-mental retardation 1 (FMR1) expansion between 55 and 200 cytosine-guanine-guanine (CGG) repeats are at increased risk of the fragile-X-associated tremor/ataxia syndrome (FXTAS).FXTAS clinical findings are late…
View article: Interleukin-23R Gene Polymophisms in Patients with Diabetic Peripheral Polyneuropathy
Interleukin-23R Gene Polymophisms in Patients with Diabetic Peripheral Polyneuropathy Open
Objective: Proinflammatory and neurovascular changes are blamed in the pathogenesis of diabetic neuropathy. Although it is accepted that diabetes is a trigger for vascular inflammation, it has been suggested that inflammation itself may tr…
View article: Familial intragenic X-linked OPHN1 gene deletion in a newborn male infant with low birth weight and distinctive facial appearance that diagnosed by advanced microarray-CGH method
Familial intragenic X-linked OPHN1 gene deletion in a newborn male infant with low birth weight and distinctive facial appearance that diagnosed by advanced microarray-CGH method Open
The oligophrenin-1 (OPHN1) gene is localized in the Xq12 region and it encodes the rho-GTPase-activating protein which spans 500 kb in size and consists of 25 exons. Gene plays crucial role in synaptic function and dendritic morphogenesis.…
View article: Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders
Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders Open
Balanced chromosomal rearrangements (BCRs), including inversions, translocations, and insertions, reorganize large sections of the genome and contribute substantial risk for developmental disorders (DDs). However, the rarity and lack of sy…
View article: A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation
A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation Open
The chromosome 10q22.3q23.2 deletion syndrome is characterized by craniofacial dysmorphic features, developmental delay, congenital heart defect, and hand/foot abnormalities. In this study, we report a patient carrying a microdeletion of 7…
View article: Prognostic Prediction of BRCA Mutations by <sup>18</sup>F-FDG PET/CT SUV<sub>max</sub> in Breast Cancer
Prognostic Prediction of BRCA Mutations by <sup>18</sup>F-FDG PET/CT SUV<sub>max</sub> in Breast Cancer Open
The results of this study showed a strong association between BRCA mutations and SUVmax, which indicates the poor prognosis of BC.
View article: Investigation of TAp63 gene expression and follicle count using melatonin in cisplatin-induced ovarian toxicity
Investigation of TAp63 gene expression and follicle count using melatonin in cisplatin-induced ovarian toxicity Open
Background: Premature ovarian failure is among the most important side effects of chemotherapy during reproductive period. Preserving ovarian function is gradually gaining importance during oncologic treatment. The present study aims to in…
View article: The comparison of telomere length in cancer patients: Plasma, whole blood and tumor tissue
The comparison of telomere length in cancer patients: Plasma, whole blood and tumor tissue Open
View article: Type-Specific Persistence/Clearance Results in Human Papillomavirus Infections in Turkish Women
Type-Specific Persistence/Clearance Results in Human Papillomavirus Infections in Turkish Women Open
OBJECTIVE: The persistence of high-risk human papillomavirus infections, most of which are known to be transient is of critical importance for the development of precursor lesions and cancer in the cervix. The aim of the present study is t…
View article: Jinekolojik Kanserlerde Yeni Nesil DNA Dizi Analizi ile Saptanan Mutasyon Profilleri: Tek Merkez Vaka Serisi Sonuçlarımız
Jinekolojik Kanserlerde Yeni Nesil DNA Dizi Analizi ile Saptanan Mutasyon Profilleri: Tek Merkez Vaka Serisi Sonuçlarımız Open
Amacımız, yaş ve aile hikayesinden bağımsız olarak merkezimizde over (OC) ve endometriyum kanseri (EC) tanısı ile cerrahisi ve ardından genetik mutasyon analizi uygulanan hastalarımızın mutasyon sıklığını ve sekanslarını araştırmaktır. Son…
View article: Diagnostic Outcomes for Genetic Testing of 54 Genes in Pregnancy Loss Using Array CGH Method: A Two-Year Retrospective Study
Diagnostic Outcomes for Genetic Testing of 54 Genes in Pregnancy Loss Using Array CGH Method: A Two-Year Retrospective Study Open
Objective: The current study aimed to retrospectively evaluate different diag- nostic approaches for the array genetic analysis of the cases from all trimester fetal loss in the medical genetics clinic between 2016 and 2017. The Quantitati…
View article: Bıçağın İki Yüzü: Kromozom 17p11.2 Delesyon ve Duplikasyon Sendromları
Bıçağın İki Yüzü: Kromozom 17p11.2 Delesyon ve Duplikasyon Sendromları Open
Potocki Lupski ve Smith Magenis sendromları insan 17. kromozom kısa kolu (11.2 bandı) ile ilişkili sendromlardır. Bu bölgenin duplikasyonu Potocki Lupski, delesyonu ise Simth Magenis sendromu olarak tanımlanmaktadır. Çocukluk çağında nadir…
View article: Is BCL11B a potential candidate gene for the diffuse cutaneous mastocytosis: A case report
Is BCL11B a potential candidate gene for the diffuse cutaneous mastocytosis: A case report Open
Introduction and Aim: Mastocytosis is a heterogeneous clinical phenotype spectrum characterized by the accumulation of mast cells in various organs. Cutaneous mastocytosis is the skin bounded form of this spectrum. Diffuse Cutaneous Mastoc…
View article: Investigation of TAp63 gene Expression and Follicle Count Using Melatonin in Cisplatin-induced Ovarian Toxicity
Investigation of TAp63 gene Expression and Follicle Count Using Melatonin in Cisplatin-induced Ovarian Toxicity Open
Background: Premature ovarian failure is among the most important side effects of chemotherapy during reproductive period. Preserving ovarian function is gradually gaining importance during oncologic treatment. The present study aims to in…
View article: Evaluation inflammatory markers of hemogram parameters in primary ovarian insufficiency
Evaluation inflammatory markers of hemogram parameters in primary ovarian insufficiency Open
Inflammatory markers of hemogram detected higher in patients with POI then control subjects.
View article: The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance Open
View article: Comparison of SUV<sub>max</sub> Values Obtained from F-18 FDG PET/CT and Cell-free DNA Levels Measured from Plasma in Oncology Patients
Comparison of SUV<sub>max</sub> Values Obtained from F-18 FDG PET/CT and Cell-free DNA Levels Measured from Plasma in Oncology Patients Open
cfDNA measurements in the blood as a screening test have provided hope for early diagnosis and monitoring of cancer patients. Comparison of cfDNA levels obtained from plasma and quantitative parameters from PET/CT images of oncology patien…
View article: The diagnostic accuracy of non-invasive fetal RhD genotyping by using cell-free fetal DNA in maternal plasma
The diagnostic accuracy of non-invasive fetal RhD genotyping by using cell-free fetal DNA in maternal plasma Open
Introduction: The non-invasive prenatal diagnosis of the fetus RhD genotype in RhD incompatibility has a crucial role in the prevention of increased anti-D immunoglobulin therapy for haemolytic diseases in pregnant women carrying RhD negat…