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View article: Cerebrospinal Fluid MicroRNAs as Early Biomarker Candidates for Predicting Vasospasm Following Aneurysmal Subarachnoid Hemorrhage
Cerebrospinal Fluid MicroRNAs as Early Biomarker Candidates for Predicting Vasospasm Following Aneurysmal Subarachnoid Hemorrhage Open
Background/Objectives: Aneurysmal subarachnoid hemorrhage (aSAH) is frequently complicated by cerebral vasospasm, a major contributor to delayed cerebral ischemia and poor neurological outcomes. Early prediction remains challenging, and th…
View article: Cerebrospinal Fluid MicroRNAs as Early Biomarker Candidates for Predicting Vasospasm Following Aneurysmal Subarachnoid Hemorrhage
Cerebrospinal Fluid MicroRNAs as Early Biomarker Candidates for Predicting Vasospasm Following Aneurysmal Subarachnoid Hemorrhage Open
Background/Objectives: Aneurysmal subarachnoid hemorrhage (aSAH) is frequently complicated by cerebral vasospasm, a major contributor to delayed cerebral ischemia and poor neurological outcomes. Early prediction remains challenging, and th…
View article: A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia
A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia Open
View article: Evaluation of Genomic Variants in Non-syndromic Congenital Heart Disease in Turkish Pediatric Group
Evaluation of Genomic Variants in Non-syndromic Congenital Heart Disease in Turkish Pediatric Group Open
Objective: Congenital heart disease (CHD) is the most common congenital malformation in the population, and so far, all the known genetic factors could explain only 20-25% of the cases. Material and Methods: In this study, microarray analy…
View article: Chromosomal abnormalities in couples with recurrent pregnancy loss: a 16-year cross-sectional study of 4030 cases from Turkey
Chromosomal abnormalities in couples with recurrent pregnancy loss: a 16-year cross-sectional study of 4030 cases from Turkey Open
BACKGROUND: Chromosomal abnormalities are a significant cause of miscarriages. Carriers of balanced chromosome rearrangement are often at risk of recurrent pregnancy loss (RPL), as they are more likely to produce gametes with unbalanced ch…
View article: A Novel De Novo Exceptional Complex Chromosomal Rearrangement Involving 5 Chromosomes Resulting in Neurodevelopmental Delay and Dysmorphism
A Novel De Novo Exceptional Complex Chromosomal Rearrangement Involving 5 Chromosomes Resulting in Neurodevelopmental Delay and Dysmorphism Open
Introduction: Complex chromosomal rearrangements (CCRs) are constitutive structural aberrations involving three or more chromosomal breaks on three or more chromosomes resulting of complex events such as fork stalling and template switchin…
View article: Mutant p.Val114Ala Transthyretin-Related Cardiac Amyloidosis with Heart Failure and Right Bundle Branch Block
Mutant p.Val114Ala Transthyretin-Related Cardiac Amyloidosis with Heart Failure and Right Bundle Branch Block Open
View article: Research on the effectiveness of CMA and WES results in pregnant females with US findings and normal karyotype results from conventional karyotype analysis
Research on the effectiveness of CMA and WES results in pregnant females with US findings and normal karyotype results from conventional karyotype analysis Open
Objectives With the advancement of next-generation sequencing (NGS), whole-exome sequencing (WES) has proven useful in diagnosing various diseases, particularly neurodevelopmental disorders, during both the prenatal and postnatal periods. …
View article: Late Diagnosis of Congenital Chloride Diarrhea Mimicking Hirschsprung’s Disease
Late Diagnosis of Congenital Chloride Diarrhea Mimicking Hirschsprung’s Disease Open
View article: Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus
Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus Open
The frequencies of the MODY subtypes differed from previous reports. Although GCK-MODY was the most frequent mutation in Turkish children, similar to previous studies, the second most prevalent MODY subtype was HNF1B-MODY. This study also …
View article: ERCC8 related Cockayne syndrome type-1: A rare entity diagnosed in a Turkish boy
ERCC8 related Cockayne syndrome type-1: A rare entity diagnosed in a Turkish boy Open
Cockayne syndrome (CS, OMIM #216400 and OMIM #133540) is a rare, progressive, multisystemic disorder that results in premature aging and cachectic dwarfism. It is an autosomal recessive disorder with a prevalence of 2-2.5 per million. Path…
View article: Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature
Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature Open
Introduction: Fanconi anemia (FA) is a heterogeneous genetic disorder that is characterized by progressive bone marrow failure, congenital malformations, predisposition to malignancy, and short stature. The RFWD3 gene was recently associat…
View article: Assessment of clinical characteristics of cardiac amyloidosis as a potential underlying etiology in patients diagnosed with heart failure with preserved ejection fraction
Assessment of clinical characteristics of cardiac amyloidosis as a potential underlying etiology in patients diagnosed with heart failure with preserved ejection fraction Open
The results of the study showed that patients diagnosed with HFpEF had an average of 1.3 red flags suggestive of CA. In real life, extracardiac red flags are rare, while electrocardiographic and echocardiographic red flags are more common …
View article: A case of familial recurrent 17q12 microdeletion syndrome presenting with severe diabetic ketoacidosis
A case of familial recurrent 17q12 microdeletion syndrome presenting with severe diabetic ketoacidosis Open
Background. Heterozygous intragenic mutations of the hepatocyte nuclear factor 1 homeobox b gene (HNF1B) located on chromosome 17 and microdeletion of 17q12 region (17q12MD) leads to the complete loss of this gene, which causes renal cysti…
View article: Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium Open
Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mu…
View article: Analyzing The Mutations Of Notch1 And Sf3b1 Genes In Cases With CLL Detected Isolated 13q Deletion
Analyzing The Mutations Of Notch1 And Sf3b1 Genes In Cases With CLL Detected Isolated 13q Deletion Open
Kronik lenfositik lösemi (KLL) lenfoid seriden köken alan ve
\nkarakteristik genetik değişikliklerin bulunduğu bir lösemi tipi olarak
\ntanımlanmaktadır. Kronik lenfositik lösemide genetik değişiklikler,
\nkromozomal aberasyonlar ve gen…
View article: Which prognostic marker is responsible for the clinical heterogeneity in CLL with 13q deletion?
Which prognostic marker is responsible for the clinical heterogeneity in CLL with 13q deletion? Open
View article: Wiedemann–Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features
Wiedemann–Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features Open
Wiedemann–Steiner syndrome (WSS) is a rare genetic disorder characterized by dysmorphic features, neurodevelopmental delay, growth retardation, and hypertrichosis cubiti. It is caused by pathogenic variants in the KMT2A gene. Here, we repo…
View article: Türk Popülasyonunda APOE Polimorfizmleri ve Alzheimer Hastalığı Arasındaki İlişki
Türk Popülasyonunda APOE Polimorfizmleri ve Alzheimer Hastalığı Arasındaki İlişki Open
Alzheimer’sdisease (AD) is a progressive neurodegenerative disease and the most commonform of the dementia which is characterized by the accumulation of amyloidplaques at the extracellular compartment and formation of neurofibrillertangles…
View article: Ailesel Akdeniz Ateşi Tanısı Alan Olgularda MEFV Geni Mutasyonlarının ve Allel Frekanslarının Dağılımı - Tek Merkez Deneyimi
Ailesel Akdeniz Ateşi Tanısı Alan Olgularda MEFV Geni Mutasyonlarının ve Allel Frekanslarının Dağılımı - Tek Merkez Deneyimi Open
FMF sıklıklaAkdeniz çevresinde yaşayan etnik grupları etkileyen, otozomal resesif geçişlibir hastalıktır. FMF’e yol açan MEFV geninin kodladığı Pirin proteininantiinflamatuar yanıtta negatif bir düzenleyici olarak rol oynadığıdüşünülmekted…