All Stories

  1. Targeted Epigenetic Silencing of Jumonji Domain-Containing Protein 3 Alleviates Nuclear Factor-Kappa B-Mediated Inflammation in Familial Mediterranean Fever
  2. Prenatal diagnosis of lowe syndrome: identification of a novel pathogenic variation in the OCRL1gene
  3. Significance of miRNAs in the Prediction of Severity and Management of Familial Mediterranean Fever
  4. Serum TNF-α, oxidized LDL, and APOCII as novel predictors for familial mediterranean fever in Egyptian children: a cross-sectional study
  5. Cytogenomic Evaluation of genetic causes of intellectual disability in patients referred to the Human Cytogenetic Department 2010-2019
  6. The association of GSTT1 deletion, HindIII C>G PAI-1, and rs11808092 polymorphisms with Parkinson's Disease susceptibility: A genetic study in an Egyptian Cohort.
  7. Diagnostic utility of whole exome sequencing in pediatric and adult patients with suspected monogenic chronic kidney disease
  8. Key genetic variants with multiple sclerosis risk in Egyptian patients
  9. Fecal Calprotectin and CRP: Noninvasive Biomarkers in IBD
  10. The Role of Plasma miR-124-3p and miR-574-3p Markers in Familial Mediterranean Fever Patients
  11. Molecular characterization of imprinting disorders: Beckwith–Wiedemann, Silver–Russell, and Prader-Willi syndromes in Egyptian patients
  12. Insight into Apert Syndrome: Reporting on Six Patients and Increasing Awareness
  13. Copy number variations: reliable diagnostic markers for Prader-Willi patients
  14. Molecular and Clinical Characterization of a Cohort of Autosomal Recessive Sensorineural Hearing Loss in Egyptian Patients
  15. Potential biomarkers of ASD a target for future treatments: oxidative stress, chemokines, apoptotic, and methylation capacity
  16. Correction: Emanuel syndrome due to unusual pattern
  17. Insight into the Blood Microbiome of Familial Mediterranean Fever (FMF) Patient: Pilot Study 
  18. Altered expression of miR-17 and miR-148b in pediatric familial mediterranean fever patients
  19. Evaluation of adropin, fibroblast growth factor-1 (FGF-1), and Toll-like receptor-1 (TLR1) biomarkers in patients with inflammatory bowel disease: gene expression of TNF-α as a marker of disease severity
  20. Emanuel syndrome due to unusual pattern
  21. Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families
  22. Sialic acid and anti-ganglioside M1 antibodies are invaluable biomarkers correlated with the severity of autism spectrum disorder
  23. Genetic and Epigenetic Regulation of MEFV Gene and Their Impact on Clinical Outcome in Auto-Inflammatory Familial Mediterranean Fever Patients
  24. Un estudio descriptivo de la enfermedad inflamatoria intestinal en un centro de atención terciario egipcio
  25. The role of the deficiency of vitamin B12 and folic acid on homocysteinemia in children with Turner syndrome
  26. Dynamic disequilibrium-based pathogenicity model in mutated pyrin’s B30.2 domain—Casp1/p20 complex
  27. BDNF as a potential predictive biomarker for patients with pediatric cerebral palsy
  28. Elevated expression of circulating CDR1as in childhood dilated cardiomyopathy patients; Expanding MAPK signaling pathway role in dilated cardiomyopathies pathogenesis.
  29. Multiplex ligation-dependent probe amplification versus fluorescent in situ hybridization for screening RB1 copy number variations in Egyptian patients with retinoblastoma
  30. Serum homocysteine, lipid profile and BMI as atherosclerotic risk factors in children with numerical chromosomal aberrations
  31. Circulating Irisin In Relation To Obesity and Anorexia Nervosa in Patients with Type 2 Diabetes
  32. Broadening the clinical spectrum of ALGS: an Egyptian cohort with five novel mutations in JAG1 gene
  33. Health-related quality of life in Egyptian patients with familial Mediterranean fever
  34. Oro‐dental features in Egyptian patients with familial mediterranean fever
  35. IGF1R, IGFALS, and IGFBP3 gene copy number variations in a group of non-syndromic Egyptian short children
  36. Differential Expression of micro RNAs and their Association with the Inflammatory Markers in Familial Mediterranean Fever Patients
  37. Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease
  38. Brain-Derived Neurotrophic Factor (BDNF) Levels In Relation To Depression In Egyptian Diabetic Women: A Pilot Study
  39. Serum Homocysteine, Lipid Profile and BMI as Atherosclerotic Risk Factors in Children with Numerical Chromosomal Aberrations
  40. Epigenetics and familial mediterranean fever
  41. The correlation of estrogen receptor 1 and progesterone receptor genes polymorphisms with recurrent pregnancy loss in a cohort of Egyptian women
  42. Chemerin as a Diagnostic Marker for Fmf in Egyptian Patients
  43. Assessment of Body Fat Distribution and Serum Liver-Type Fatty Acid-Binding Protein (L-FABP) and Neutrophil Gelatinase-Associated Lipocalin (NGAL): Potential Noninvasive Markers for Non-Alcoholic Fatty Liver Disease
  44. RANTES as a novel biomarker for atherogenic dyslipidemia and metabolic disturbances in patients with Type 2 Diabetes
  45. Clinical Implications of S100A12 and Resolvin D1 Serum Levels, and Related Genes in Children with Familial Mediterranean Fever
  46. Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum
  47. Screening of the SHOX/PAR1 region using MLPA and miRNA expression profiling in a group of Egyptian children with non-syndromic short stature
  48. Inflammatory and endothelial dysfunction indices among Egyptian females with obesity classes I–III
  49. A descriptive study of NPHS1 and NPHS2 mutations in children with congenital nephrotic syndrome
  50. Assessment of Multiplex Ligation-Dependent Probe Amplification (MLPA) as a diagnostic test for Egyptian patients with Williams-Beuren syndrome
  51. Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants
  52. Carotid intima-media thickness, lipid profile, serum amyloid A and vitamin D status in children with familial Mediterranean fever
  53. Osteopontin, Malondialdehyde and Interleukin-1β Levels in Patients with Insulin Resistance and Dyslipidemia in Obese Egyptian Women
  54. Detection of low-grade mosaicism and its correlation with hormonal profile, testicular volume, and semen quality in a cohort of Egyptian Klinefelter and Klinefelter-like patients
  55. Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation
  56. Clinical and cytogenomic characterization of de novo trisomy 9 mosaicism in an Egyptian family: phenotype/karyotype correlation
  57. Measurement of Serum Chemerin, Oxidized LDL, and Vitamin D Levels in Prader–Willi Syndrome: A Cross-Sectional Study in Pediatric Egyptian Patients
  58. DNA Damage and Neutrophil Elastase in Children with Prader-Willi Syndrome
  59. Oxidative Stress, Neutrophil Elastase and Vascular Endothelial Growth Factor in Obese Pregnant Women with Preeclampsia
  60. Mutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature
  61. Genetic assessment of ten Egyptian patients with Sjögren–Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation
  62. Early Detection and Management of Prader-Willi Syndrome in Egyptian Patients
  63. The association of +1150A polymorphism with low GH level in isolated growth hormone deficiency (IGHD) patients
  64. Apoptosis, reactive oxygen species and DNA damage in Familial Mediterranean Fever patients
  65. Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation
  66. Assessment of physical growth, some oxidative stress biomarkers and vitamin D status in children with Familial Mediterranean Fever
  67. Screening of the most common MEFV mutations in a large cohort of Egyptian patients with Familial Mediterranean fever
  68. Evaluation of DNA damage profile in obese women and its association to risk of metabolic syndrome, polycystic ovary syndrome and recurrent preeclampsia
  69. Assessment of DNA damage in obese premenopausal women with metabolic syndrome
  70. Immunological Evaluation in Patients with Familial Mediterranean fever
  71. Association of vitamin D receptor gene polymorphism (VDR) with vitamin D deficiency, metabolic and inflammatory markers in Egyptian obese women
  72. Association of the Pro12Ala Polymorphism with the Metabolic Parameters in Women with Polycystic Ovary Syndrome
  73. Aicardi-Goutières syndrome: unusual neuro-radiological manifestations
  74. Registry of ocular anomalies among patients with genetic disorders attending the clinical genetics department at the National Research Center in Egypt
  75. Coenzyme Q10 and pro-inflammatory markers in children with Down syndrome: clinical and biochemical aspects
  76. Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients
  77. Mercury toxicity and DNA damage in patients with Down syndrome
  78. Metabolic abnormalities in young Egyptian women with polycystic ovary syndrome and their relation to ADIPOQ gene variants and body fat phenotype
  79. Cross-sectional analysis of long bones in a sample of ancient Egyptians
  80. Behavioral problems, biochemical, and anthropometric characteristics of patients with Prader–Willi syndrome
  81. The role of H. pylori infection in gall bladder cancer: clinicopathological study
  82. Oxidative stress -a phenotypic hallmark of Fanconi anemia and Down syndrome: The effect of antioxidants
  83. Lipocalin-2 is an inflammatory biomarker associated with metabolic abnormalities in Egyptian obese children
  84. Indicators of the metabolic syndrome in obese adolescents
  85. Detection and Quantification of Free Radicals in Peroxisomal Disorders: A Comparative Study with Oxidative Stress Parameters
  86. Association of serum paraoxonase enzyme activity and oxidative stress markers with dyslipidemia in obese adolescents
  87. Mutation analysis of the GJB2 and GJB6 genes in Egyptian patients with autosomal recessive sensorineural nonsyndromic hearing loss
  88. Screening for common mutations in four FANCA gene exons in Egyptian Fanconi anemia patients
  89. Assessment of DNA Damage and Oxidative stress in Down syndrome
  90. Osteoporosis in Chronic Hepatitis C Virus with Advanced Liver Fibrosis
  91. The Significance of Articular Hand Manifestations in Chronic HCV Patients
  92. Anti-diuretic hormone and genetic study in primary nocturnal enuresis
  93. PP237-MON PREVALENCE OF RISK FACTORS FOR METABOLIC SYNDROME IN OBESE ADOLESCENTS
  94. Distinct Ocular Expression in Infants and Children With Down Syndrome in Cairo, Egypt
  95. Age–Related Differences in Body Composition in Egyptian Obese Females
  96. Assessment of metal content and oxidative stress in autistic Egyptian patients
  97. Screening seven common mitochondrial mutations in 28 Egyptian patients with suspected mitochondrial disease
  98. Clinical and molecular findings in eight Egyptian patients with suspected mitochondrial disorders and optic atrophy
  99. Growth curves of Egyptian patients with Turner syndrome
  100. Clinical significance of inflammatory and fibrogenic cytokines in diabetic nephropathy
  101. A cephalometric study of skulls from the Bahriyah oasis
  102. P53 protein and Ki-67 expression in chronic gastritis patients with positive Helicobacter pylori infection
  103. Sexual dysfunction in males with hepatitis C virus: Relevance to histopathologic changes and peginterferon treatment
  104. Variable Associations of Klinefelter Syndrome in Children
  105. Predictive Value Of Biochemical Markers In Pregnancy Induced Hypertension
  106. Management of rare side effects of peginterferon and ribavirin therapy during hepatitis C treatment: a case report
  107. Polyploidy in chronic lymphocytic leukemia with p53 deletion detected by fish: a case report
  108. The Effect of Diet on Antioxidant Status in Patients with Galactosemia