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  1. Molecular and Clinical Characterization of a Cohort of Autosomal Recessive Sensorineural Hearing Loss in Egyptian Patients

    Article • Journal of Molecular Neuroscience, October 2024, Springer Science + Business Media

    Professor Hala T. El-Bassyouni

  2. Potential biomarkers of ASD a target for future treatments: oxidative stress, chemokines, apoptotic, and methylation capacity

    Article • Journal of Complementary and Integrative Medicine, July 2024, De Gruyter

    Professor Hala T. El-Bassyouni

  3. Correction: Emanuel syndrome due to unusual pattern

    Article • Egyptian Journal of Medical Human Genetics, July 2024, Springer Science + Business Media

    Professor Hala T. El-Bassyouni

  4. Insight into the Blood Microbiome of Familial Mediterranean Fever (FMF) Patient: Pilot Study 

    Article • June 2024, Springer Science + Business Media

    Professor Hala T. El-Bassyouni

  5. Altered expression of miR-17 and miR-148b in pediatric familial mediterranean fever patients

    Article • Clinical Rheumatology, June 2024, Springer Science + Business Media

    Professor Hala T. El-Bassyouni

  6. 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

    Article • Egyptian Journal of Medical Human Genetics, June 2024, Springer Science + Business Media

    Professor Hala T. El-Bassyouni

  7. Emanuel syndrome due to unusual pattern

    Article • Egyptian Journal of Medical Human Genetics, February 2024, Springer Science + Business Media

    Professor Hala T. El-Bassyouni

  8. Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families

    Article • Genes, April 2023, MDPI AG

    Professor Hala T. El-Bassyouni

  9. Sialic acid and anti-ganglioside M1 antibodies are invaluable biomarkers correlated with the severity of autism spectrum disorder

    Article • Brain and Development, April 2023, Elsevier

    Professor Hala T. El-Bassyouni

  10. Genetic and Epigenetic Regulation of MEFV Gene and Their Impact on Clinical Outcome in Auto-Inflammatory Familial Mediterranean Fever Patients

    Article • Current Issues in Molecular Biology, January 2023, MDPI AG

    Professor Hala T. El-Bassyouni

  11. Un estudio descriptivo de la enfermedad inflamatoria intestinal en un centro de atención terciario egipcio

    Article • Revista de Gastroenterología de México, January 2023, Elsevier

    Professor Hala T. El-Bassyouni

  12. The role of the deficiency of vitamin B12 and folic acid on homocysteinemia in children with Turner syndrome

    Article • Journal of Pediatric Endocrinology and Metabolism, December 2022, De Gruyter

    Professor Hala T. El-Bassyouni

  13. Dynamic disequilibrium-based pathogenicity model in mutated pyrin’s B30.2 domain—Casp1/p20 complex

    Article • Journal of Genetic Engineering and Biotechnology, December 2022, Elsevier

    Professor Hala T. El-Bassyouni

  14. BDNF as a potential predictive biomarker for patients with pediatric cerebral palsy

    Article • F1000Research, November 2022, Faculty of 1000, Ltd.

    Professor Hala T. El-Bassyouni

  15. Elevated expression of circulating CDR1as in childhood dilated cardiomyopathy patients; Expanding MAPK signaling pathway role in dilated cardiomyopathies pathogenesis.

    Article • October 2022, Research Square

    Professor Hala T. El-Bassyouni

  16. Multiplex ligation-dependent probe amplification versus fluorescent in situ hybridization for screening RB1 copy number variations in Egyptian patients with retinoblastoma

    Article • Ophthalmic Genetics, September 2022, Taylor & Francis

    Professor Hala T. El-Bassyouni

  17. Serum homocysteine, lipid profile and BMI as atherosclerotic risk factors in children with numerical chromosomal aberrations

    Article • World Journal of Pediatrics, April 2022, Springer Science + Business Media

    Professor Hala T. El-Bassyouni

  18. Circulating Irisin In Relation To Obesity and Anorexia Nervosa in Patients with Type 2 Diabetes

    Article • Egyptian Journal of Chemistry, March 2022, Egypts Presidential Specialized Council for Education and Scientific Research

    Professor Hala T. El-Bassyouni

  19. Broadening the clinical spectrum of ALGS: an Egyptian cohort with five novel mutations in JAG1 gene

    Article • Egyptian Journal of Medical Human Genetics, March 2022, Springer Science + Business Media

    Professor Hala T. El-Bassyouni

  20. Health-related quality of life in Egyptian patients with familial Mediterranean fever

    Article • Middle East Journal of Medical Genetics, January 2022, Egypts Presidential Specialized Council for Education and Scientific Research

    Professor Hala T. El-Bassyouni

  21. Oro‐dental features in Egyptian patients with familial mediterranean fever

    Article • Special Care in Dentistry, December 2021, Wiley

    Professor Hala T. El-Bassyouni

  22. IGF1R, IGFALS, and IGFBP3 gene copy number variations in a group of non-syndromic Egyptian short children

    Article • Journal of Genetic Engineering and Biotechnology, December 2021, Elsevier

    Professor Hala T. El-Bassyouni

  23. Differential Expression of micro RNAs and their Association with the Inflammatory Markers in Familial Mediterranean Fever Patients

    Article • Biomedical & Pharmacology Journal, September 2021, Oriental Scientific Publishing Company

    Professor Hala T. El-Bassyouni

  24. Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease

    Article • Genes, September 2021, MDPI AG

    Professor Hala T. El-Bassyouni

  25. Brain-Derived Neurotrophic Factor (BDNF) Levels In Relation To Depression In Egyptian Diabetic Women: A Pilot Study

    Article • Egyptian Journal of Chemistry, August 2021, Egypts Presidential Specialized Council for Education and Scientific Research

    Professor Hala T. El-Bassyouni

  26. Serum Homocysteine, Lipid Profile and BMI as Atherosclerotic Risk Factors in Children with Numerical Chromosomal Aberrations

    Article • June 2021, Research Square

    Professor Hala T. El-Bassyouni

  27. Epigenetics and familial mediterranean fever

    Article • Azhar International Journal of Pharmaceutical and Medical Sciences, June 2021, Egypts Presidential Specialized Council for Education and Scientific Research

    Professor Hala T. El-Bassyouni

  28. The correlation of estrogen receptor 1 and progesterone receptor genes polymorphisms with recurrent pregnancy loss in a cohort of Egyptian women

    Article • Molecular Biology Reports, May 2021, Springer Science + Business Media

    Professor Hala T. El-Bassyouni

  29. Chemerin as a Diagnostic Marker for Fmf in Egyptian Patients

    Article • April 2021, Research Square

    Professor Hala T. El-Bassyouni

  30. 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

    Article • Biointerface Research in Applied Chemistry, March 2021, AMG Transcend Association

    Professor Hala T. El-Bassyouni

  31. RANTES as a novel biomarker for atherogenic dyslipidemia and metabolic disturbances in patients with Type 2 Diabetes

    Article • Egyptian Journal of Chemistry, January 2021, Egypts Presidential Specialized Council for Education and Scientific Research

    Professor Hala T. El-Bassyouni

  32. Clinical Implications of S100A12 and Resolvin D1 Serum Levels, and Related Genes in Children with Familial Mediterranean Fever

    Article • Journal of Child Science, January 2021, Thieme Publishing Group

    Professor Hala T. El-Bassyouni, Dr Mahmoud M ElHefnawi

  33. Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum

    Article • Journal of Molecular Neuroscience, November 2020, Springer Science + Business Media

    Professor Hala T. El-Bassyouni

  34. Screening of the SHOX/PAR1 region using MLPA and miRNA expression profiling in a group of Egyptian children with non-syndromic short stature

    Article • Egyptian Journal of Medical Human Genetics, September 2020, Springer Science + Business Media

    Professor Hala T. El-Bassyouni

  35. Inflammatory and endothelial dysfunction indices among Egyptian females with obesity classes I–III

    Article • Bioscience Reports, September 2020, Portland Press Ltd.

    Professor Hala T. El-Bassyouni

  36. A descriptive study of NPHS1 and NPHS2 mutations in children with congenital nephrotic syndrome

    Article • Gene Reports, September 2020, Elsevier

    Professor Hala T. El-Bassyouni

  37. Assessment of Multiplex Ligation-Dependent Probe Amplification (MLPA) as a diagnostic test for Egyptian patients with Williams-Beuren syndrome

    Article • Gene Reports, September 2020, Elsevier

    Professor Hala T. El-Bassyouni

  38. Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

    Article • Brain, July 2020, Oxford University Press (OUP)

    Professor Hala T. El-Bassyouni

  39. Carotid intima-media thickness, lipid profile, serum amyloid A and vitamin D status in children with familial Mediterranean fever

    Article • The Egyptian Rheumatologist, July 2020, Elsevier

    Professor Hala T. El-Bassyouni

  40. Osteopontin, Malondialdehyde and Interleukin-1β Levels in Patients with Insulin Resistance and Dyslipidemia in Obese Egyptian Women

    Article • Biomedical & Pharmacology Journal, June 2020, Oriental Scientific Publishing Company

    Professor Hala T. El-Bassyouni

  41. 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

    Article • Reproductive Biology, June 2020, Elsevier

    Professor Hala T. El-Bassyouni

  42. Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation

    Article • American Journal of Medical Genetics Part A, April 2020, Wiley

    Professor Hala T. El-Bassyouni

  43. Clinical and cytogenomic characterization of de novo trisomy 9 mosaicism in an Egyptian family: phenotype/karyotype correlation

    Article • Trends in Medicine, January 2020, Open Access Text Pvt, Ltd.

    Professor Hala T. El-Bassyouni

  44. Measurement of Serum Chemerin, Oxidized LDL, and Vitamin D Levels in Prader–Willi Syndrome: A Cross-Sectional Study in Pediatric Egyptian Patients

    Article • Journal of Child Science, January 2020, Thieme Publishing Group

    Professor Hala T. El-Bassyouni

  45. DNA Damage and Neutrophil Elastase in Children with Prader-Willi Syndrome

    Article • Biomedical & Pharmacology Journal, December 2019, Oriental Scientific Publishing Company

    Professor Hala T. El-Bassyouni

  46. Oxidative Stress, Neutrophil Elastase and Vascular Endothelial Growth Factor in Obese Pregnant Women with Preeclampsia

    Article • Biomedical & Pharmacology Journal, December 2019, Oriental Scientific Publishing Company

    Professor Hala T. El-Bassyouni

  47. Mutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature

    Article • Journal of Pediatric Genetics, September 2019, Thieme Publishing Group

    Professor Hala T. El-Bassyouni

  48. Genetic assessment of ten Egyptian patients with Sjögren–Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation

    Article • Archives of Dermatological Research, August 2019, Springer Science + Business Media

    Professor Hala T. El-Bassyouni

  49. Early Detection and Management of Prader-Willi Syndrome in Egyptian Patients

    Article • Journal of Pediatric Genetics, August 2019, Thieme Publishing Group

    Professor Hala T. El-Bassyouni

  50. The association of +1150A polymorphism with low GH level in isolated growth hormone deficiency (IGHD) patients

    Article • Gene Reports, March 2019, Elsevier

    Professor Hala T. El-Bassyouni

  51. Apoptosis, reactive oxygen species and DNA damage in Familial Mediterranean Fever patients

    Article • Gene Reports, March 2019, Elsevier

    Professor Hala T. El-Bassyouni

  52. Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation

    Article • Molecular Cytogenetics, November 2018, Springer Science + Business Media

    Professor Hala T. El-Bassyouni

  53. Assessment of physical growth, some oxidative stress biomarkers and vitamin D status in children with Familial Mediterranean Fever

    Article • Meta Gene, September 2018, Elsevier

    Professor Hala T. El-Bassyouni

  54. Screening of the most common MEFV mutations in a large cohort of Egyptian patients with Familial Mediterranean fever

    Article • Gene Reports, June 2018, Elsevier

    Professor Hala T. El-Bassyouni

  55. Evaluation of DNA damage profile in obese women and its association to risk of metabolic syndrome, polycystic ovary syndrome and recurrent preeclampsia

    Article • Genes & Diseases, March 2018, Elsevier

    Professor Hala T. El-Bassyouni

  56. Assessment of DNA damage in obese premenopausal women with metabolic syndrome

    Article • Gene Reports, March 2018, Elsevier

    Professor Hala T. El-Bassyouni

  57. Immunological Evaluation in Patients with Familial Mediterranean fever

    Article • Open Access Macedonian Journal of Medical Sciences, February 2018, Macedonian Journal of Medical Science

    Professor Hala T. El-Bassyouni

  58. Association of vitamin D receptor gene polymorphism (VDR) with vitamin D deficiency, metabolic and inflammatory markers in Egyptian obese women

    Article • Genes & Diseases, September 2017, Elsevier

    Professor Hala T. El-Bassyouni

  59. Association of the Pro12Ala Polymorphism with the Metabolic Parameters in Women with Polycystic Ovary Syndrome

    Article • Open Access Macedonian Journal of Medical Sciences, June 2017, Macedonian Journal of Medical Science

    Professor Hala T. El-Bassyouni

  60. Aicardi-Goutières syndrome: unusual neuro-radiological manifestations

    Article • Metabolic Brain Disease, March 2017, Springer Science + Business Media

    Professor Hala T. El-Bassyouni

  61. Registry of ocular anomalies among patients with genetic disorders attending the clinical genetics department at the National Research Center in Egypt

    Article • Ophthalmic Genetics, January 2017, Taylor & Francis

    Professor Hala T. El-Bassyouni

  62. Coenzyme Q10 and pro-inflammatory markers in children with Down syndrome: clinical and biochemical aspects

    Article • Jornal de Pediatria, January 2017, Elsevier

    Professor Hala T. El-Bassyouni

  63. Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients

    Article • European Journal of Paediatric Neurology, September 2016, Elsevier

    Professor Hala T. El-Bassyouni

  64. Mercury toxicity and DNA damage in patients with Down syndrome

    Article • Medical Research Journal, June 2016, Wolters Kluwer Health

    Professor Hala T. El-Bassyouni, Professor Mervet Harvi Agaibyi

  65. Metabolic abnormalities in young Egyptian women with polycystic ovary syndrome and their relation to ADIPOQ gene variants and body fat phenotype

    Article • Egyptian Journal of Medical Human Genetics, October 2015, Elsevier

    Professor Hala T. El-Bassyouni

  66. Cross-sectional analysis of long bones in a sample of ancient Egyptians

    Article • The Egyptian Journal of Radiology and Nuclear Medicine, September 2015, Elsevier

    Professor Hala T. El-Bassyouni

  67. Behavioral problems, biochemical, and anthropometric characteristics of patients with Prader–Willi syndrome

    Article • Middle East Journal of Medical Genetics, July 2015, Wolters Kluwer Health

    Professor Hala T. El-Bassyouni

  68. The role of H. pylori infection in gall bladder cancer: clinicopathological study

    Article • Tumor Biology, April 2015, Springer Science + Business Media

    Professor Hala T. El-Bassyouni

  69. Oxidative stress -a phenotypic hallmark of Fanconi anemia and Down syndrome: The effect of antioxidants

    Article • Annals of Medical and Health Sciences Research, January 2015, Medknow

    Professor Hala T. El-Bassyouni

  70. Lipocalin-2 is an inflammatory biomarker associated with metabolic abnormalities in Egyptian obese children

    Article • Journal of Applied Pharmaceutical Science, January 2015, Journal of Applied Pharmaceutical Science

    Professor Hala T. El-Bassyouni

  71. Indicators of the metabolic syndrome in obese adolescents

    Article • Archives of Medical Science, January 2015, Termedia Sp. z.o.o.

    Professor Hala T. El-Bassyouni

  72. Detection and Quantification of Free Radicals in Peroxisomal Disorders: A Comparative Study with Oxidative Stress Parameters

    Article • JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, January 2015, JCDR Research and Publications

    Professor Hala T. El-Bassyouni

  73. Association of serum paraoxonase enzyme activity and oxidative stress markers with dyslipidemia in obese adolescents

    Article • Indian Journal of Endocrinology and Metabolism, January 2014, Medknow

    Professor Hala T. El-Bassyouni

  74. Mutation analysis of the GJB2 and GJB6 genes in Egyptian patients with autosomal recessive sensorineural nonsyndromic hearing loss

    Article • Middle East Journal of Medical Genetics, January 2014, Medknow

    Professor Hala T. El-Bassyouni

  75. Screening for common mutations in four FANCA gene exons in Egyptian Fanconi anemia patients

    Article • Middle East Journal of Medical Genetics, January 2014, Medknow

    Professor Hala T. El-Bassyouni

  76. Assessment of DNA Damage and Oxidative stress in Down syndrome

    Article • Journal of Investigational Biochemistry, January 2014, ScopeMed International Medical Journal Management and Indexing System

    Professor Hala T. El-Bassyouni

  77. Osteoporosis in Chronic Hepatitis C Virus with Advanced Liver Fibrosis

    Article • Journal of Gastroenterology and Hepatology Research, January 2014, ACT Publishing Group

    Professor Hala T. El-Bassyouni

  78. The Significance of Articular Hand Manifestations in Chronic HCV Patients

    Article • Journal of Gastroenterology and Hepatology Research, January 2014, ACT Publishing Group

    Professor Hala T. El-Bassyouni

  79. Anti-diuretic hormone and genetic study in primary nocturnal enuresis

    Article • Journal of Pediatric Urology, December 2013, Elsevier

    Professor Hala T. El-Bassyouni

  80. PP237-MON PREVALENCE OF RISK FACTORS FOR METABOLIC SYNDROME IN OBESE ADOLESCENTS

    Article • Clinical Nutrition, September 2013, Elsevier

    Professor Hala T. El-Bassyouni

  81. Distinct Ocular Expression in Infants and Children With Down Syndrome in Cairo, Egypt

    Article • JAMA Ophthalmology, August 2013, American Medical Association (AMA)

    Professor Hala T. El-Bassyouni

  82. Age–Related Differences in Body Composition in Egyptian Obese Females

    Article • Macedonian Journal of Medical Sciences, March 2013, Macedonian Journal of Medical Science

    Professor Hala T. El-Bassyouni

  83. Assessment of metal content and oxidative stress in autistic Egyptian patients

    Article • Middle East Journal of Medical Genetics, January 2013, Medknow

    Professor Hala T. El-Bassyouni

  84. Screening seven common mitochondrial mutations in 28 Egyptian patients with suspected mitochondrial disease

    Article • Middle East Journal of Medical Genetics, January 2013, Wolters Kluwer Health

    Professor Hala T. El-Bassyouni

  85. Clinical and molecular findings in eight Egyptian patients with suspected mitochondrial disorders and optic atrophy

    Article • Egyptian Journal of Medical Human Genetics, January 2013, Elsevier

    Professor Hala T. El-Bassyouni

  86. Growth curves of Egyptian patients with Turner syndrome

    Article • American Journal of Medical Genetics Part A, July 2012, Wiley

    Professor Hala T. El-Bassyouni

  87. Clinical significance of inflammatory and fibrogenic cytokines in diabetic nephropathy

    Article • Clinical Biochemistry, June 2012, Elsevier

    Professor Hala T. El-Bassyouni

  88. A cephalometric study of skulls from the Bahriyah oasis

    Article • Journal of Forensic Dental Sciences, January 2012, Medknow

    Professor Hala T. El-Bassyouni

  89. P53 protein and Ki-67 expression in chronic gastritis patients with positive Helicobacter pylori infection

    Article • Journal of Genetic Engineering and Biotechnology, January 2011, Elsevier

    Professor Hala T. El-Bassyouni

  90. Sexual dysfunction in males with hepatitis C virus: Relevance to histopathologic changes and peginterferon treatment

    Article • Saudi Journal of Gastroenterology, January 2011, Medknow

    Professor Hala T. El-Bassyouni

  91. Variable Associations of Klinefelter Syndrome in Children

    Article • Journal of Pediatric Endocrinology and Metabolism, January 2010, De Gruyter

    Professor Hala T. El-Bassyouni

  92. Predictive Value Of Biochemical Markers In Pregnancy Induced Hypertension

    Article • Egyptian Journal of Biochemistry and Molecular Biology, January 2009, African Journals Online (AJOL)

    Professor Hala T. El-Bassyouni

  93. Management of rare side effects of peginterferon and ribavirin therapy during hepatitis C treatment: a case report

    Article • Cases Journal, January 2009, Springer Science + Business Media

    Professor Hala T. El-Bassyouni

  94. Polyploidy in chronic lymphocytic leukemia with p53 deletion detected by fish: a case report

    Article • Cases Journal, January 2009, Springer Science + Business Media

    Professor Hala T. El-Bassyouni

  95. The Effect of Diet on Antioxidant Status in Patients with Galactosemia

    Article • Journal of Medical Sciences(Faisalabad), March 2006, Science Alert

    Professor Hala T. El-Bassyouni