Keyword Index

A

  • Achondroplasia Autism spectrum disorder and achondroplasia in an Egyptian patient [Volume 10, Issue 2, 2021]
  • Acute lymphocytic leukaemia Screening and production of bacterial L-glutaminase as an anticancer agent from different soil environments in Egypt [Volume 12, Issue 1, 2023, Pages 1-12]
  • Aggressive Periodontitis Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification [Volume 8, Issue 2, 2019]
  • ALU Frequency of balanced reciprocal translocations from couples with recurrent miscarriages correlates with the density of Alu and L1 repeat elements: literature finding-based study [Volume 8, Issue 1, 2019]
  • Amelogenesis imperfecta Atypical case of amelogenesis imperfecta and generalized impacted dentitions: dental management and follow ups [Volume 12, Issue 1, 2023, Pages 1-4]
  • Ang-2 Association of epidermal growth factor genotype with angiogenesis in Egyptian hepatocellular carcinoma and cirrhotic patients [Volume 10, Issue 1, 2021]
  • Angiogenesis Association of epidermal growth factor genotype with angiogenesis in Egyptian hepatocellular carcinoma and cirrhotic patients [Volume 10, Issue 1, 2021]
  • Ankylosing spondylitis Increased LncRNA TUG1 expression level impacted ankylosing spondylitis risk, association with disability, and patients’ quality of life [Volume 12, Issue 1, 2023, Pages 1-11]
  • Anonychia Interstitial 8p deletion in two patients with the expansion of phenotype and possibility of contribution of PINX1 gene and GATA4 rs3729856 variant in absent nails [(Articles in Press)]
  • Aplastic anemia Fanconi and Non-Fanconi anemia: A Single Center Experience of A Large Egyptian Cohort [Volume 11, Issue 1, 2022, Pages 19-28]
  • Array CGH Phenotypic correlation and molecular cytogenomic study of a patient with 9p duplication and 14q terminal deletion [Volume 8, Issue 2, 2019]
  • ARSB gene Mutation analysis of the arylsulfatase B gene among Egyptian patients with Maroteaux–Lamy disorder [Volume 7, Issue 2, 2018]
  • Asthmatic Children Genetic Predisposition of Language Disorders Among Different Independent Factors in Bronchial Asthma [Volume 13, Issue 1, 2024, Pages 32-38]
  • Autism Spectrum Disorder Fragile X syndrome clinical and associated comorbidities [Volume 10, Issue 1, 2021]

B

  • Bardet-Biedl syndrome Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families [Volume 9, Issue 2, 2020]
  • Body Image Body image, Anxiety, Depression and DNA damage in Obese Egyptian Women [Volume 8, Issue 1, 2019]
  • Bone marrow failure Lymphocyte mosaicism in Fanconi anemia: diagnosis and clinical correlation [Volume 9, Issue 2, 2020]

C

  • Cancer MicroRNA-mediated sensitization of lung cancer cells to chemotherapeutics: the roles of miR-21 and miR-155 [Volume 7, Issue 2, 2018]
  • CDR1as Elevated CDR1as may affect CACNG5 and EGFR via hsa-miR-7-5p sponge in childhood dilated cardiomyopathy patients. [Volume 12, Issue 2, 2023, Pages 1-9]
  • CHD Genetic Factors Study among Congenital Heart Disease Children Using Multiplex Ligation Dependent Probe Amplification [Volume 12, Issue 2, 2023, Pages 1-10]
  • Chemokines Cytokine profile in a cohort of Egyptian patients with autism spectrum disorders [Volume 10, Issue 2, 2021]
  • Chimerism Chromosomal aberrations and chromosomal heteromorphisms among young couples with recurrent spontaneous abortion [Volume 8, Issue 1, 2019]
  • Chitotriosidase Biochemical evaluations at two time points in 15 patients with nephropathic cystinosis under cysteamine treatment [Volume 10, Issue 2, 2021]
  • Chromosomal abnormalities Cytogenetic study of a large cohort of patients with corpus callosum abnormalities [Volume 8, Issue 2, 2019]
  • Chromosomal abnormality Clinical implementation of sperm DNA fragmentation studies in the assessment of male unexplained infertility [Volume 10, Issue 1, 2021]
  • Circular RNAs Elevated CDR1as may affect CACNG5 and EGFR via hsa-miR-7-5p sponge in childhood dilated cardiomyopathy patients. [Volume 12, Issue 2, 2023, Pages 1-9]
  • Cirrhosis Association of epidermal growth factor genotype with angiogenesis in Egyptian hepatocellular carcinoma and cirrhotic patients [Volume 10, Issue 1, 2021]
  • CMA Phelan–McDermid Syndrome: Expanding the Phenotype [Volume 11, Issue 2, 2022, Pages 46-53]
  • CNV Molecular and cytogenetic diagnosis of disorders/differences of sex development: molecular update of genes controlling sexual differentiation [Volume 10, Issue 2, 2021]
  • CNV Copy Number Variation Study of A Cohort of 46,XY DSD Patients [Volume 13, Issue 1, 2024, Pages 39-49]
  • CNVs Genetic Factors Study among Congenital Heart Disease Children Using Multiplex Ligation Dependent Probe Amplification [Volume 12, Issue 2, 2023, Pages 1-10]
  • Cognition Genetic Predisposition of Language Disorders Among Different Independent Factors in Bronchial Asthma [Volume 13, Issue 1, 2024, Pages 32-38]
  • Cohesion Genetic characterization of a patient with Cornelia de Lange syndrome with a novel missense mutation [Volume 9, Issue 1, 2020]
  • Comet assay Clinical implementation of sperm DNA fragmentation studies in the assessment of male unexplained infertility [Volume 10, Issue 1, 2021]
  • Cornelia de Lange syndrome Genetic characterization of a patient with Cornelia de Lange syndrome with a novel missense mutation [Volume 9, Issue 1, 2020]
  • CTLA-4 Cytotoxic T-Lymphocyte Antigen 4 (CTLA-4) Gene Variants in Females with Recurrent Spontaneous Pregnancy Loss [Volume 13, Issue 1, 2024, Pages 1-8]
  • CYP1B1 gene A novel missense variant in CYP1B1 in an Egyptian patient with Primary Congenital Glaucoma [Volume 11, Issue 2, 2022, Pages 54-57]
  • Cysteamine Biochemical evaluations at two time points in 15 patients with nephropathic cystinosis under cysteamine treatment [Volume 10, Issue 2, 2021]
  • Cytokines Cytokine profile in a cohort of Egyptian patients with autism spectrum disorders [Volume 10, Issue 2, 2021]
  • Cytokines Multiple cytokine analysis in familial Mediterranean fever Egyptian cases using multiplex assay (Luminex technology) as a new inflammatory biomarker for disease activity [Volume 8, Issue 2, 2019]

D

  • D312N mutation A rare mutation in an Egyptian family with Sanfilippo B syndrome [Volume 8, Issue 2, 2019]
  • D7S3052 marker Genetic study of the association of specific language impairment to markers near gene [Volume 7, Issue 2, 2018]
  • Delayed eruptione Atypical case of amelogenesis imperfecta and generalized impacted dentitions: dental management and follow ups [Volume 12, Issue 1, 2023, Pages 1-4]
  • Delayed language development Genetic Predisposition of Language Disorders Among Different Independent Factors in Bronchial Asthma [Volume 13, Issue 1, 2024, Pages 32-38]
  • Delivery systems Genome-editing technologies: Advancement, clinical applications, and ethical concerns [Volume 7, Issue 2, 2018]
  • Disability Increased LncRNA TUG1 expression level impacted ankylosing spondylitis risk, association with disability, and patients’ quality of life [Volume 12, Issue 1, 2023, Pages 1-11]
  • Disorders of sex development Study of the Quality of Life in children and adolescents with Disorders of Sex Development (DSD) [Volume 12, Issue 1, 2023, Pages 1-14]
  • DNA damage Body image, Anxiety, Depression and DNA damage in Obese Egyptian Women [Volume 8, Issue 1, 2019]
  • DNA fragmentation Clinical implementation of sperm DNA fragmentation studies in the assessment of male unexplained infertility [Volume 10, Issue 1, 2021]
  • DNA repeat elements Frequency of balanced reciprocal translocations from couples with recurrent miscarriages correlates with the density of Alu and L1 repeat elements: literature finding-based study [Volume 8, Issue 1, 2019]
  • Down syndrome Assessment of serum level of vitamin D in infants and children with Down syndrome [Volume 7, Issue 2, 2018]
  • Dried Blood Spot Biochemical diagnosis of Wolman disease among patients with suspected lysosomal storage diseases [Volume 8, Issue 2, 2019]
  • Dried Blood Spot Quantification of hemoglobin peptides in Beta-thalassemia patients using tandem mass spectrometry for future national screening program [Volume 9, Issue 1, 2020]
  • DSD Molecular and cytogenetic diagnosis of disorders/differences of sex development: molecular update of genes controlling sexual differentiation [Volume 10, Issue 2, 2021]

E

  • EEC syndrome Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate Syndrome (EEC) in Patients with TP63 Variants [Volume 13, Issue 1, 2024, Pages 9-15]
  • EGF gene Association of epidermal growth factor genotype with angiogenesis in Egyptian hepatocellular carcinoma and cirrhotic patients [Volume 10, Issue 1, 2021]
  • Egypt Quantification of hemoglobin peptides in Beta-thalassemia patients using tandem mass spectrometry for future national screening program [Volume 9, Issue 1, 2020]
  • Egyptian Fanconi and Non-Fanconi anemia: A Single Center Experience of A Large Egyptian Cohort [Volume 11, Issue 1, 2022, Pages 19-28]
  • Egyptian Families Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families [Volume 9, Issue 2, 2020]
  • Egyptian patient A novel missense variant in CYP1B1 in an Egyptian patient with Primary Congenital Glaucoma [Volume 11, Issue 2, 2022, Pages 54-57]
  • Emotional functioning Health-related quality of life in Egyptian patients with familial Mediterranean fever [Volume 11, Issue 1, 2022, Pages 38-45]
  • Epilepsy Autism spectrum disorder and achondroplasia in an Egyptian patient [Volume 10, Issue 2, 2021]
  • Epilepsy Fragile X syndrome clinical and associated comorbidities [Volume 10, Issue 1, 2021]
  • Ethics Updates about ethical, legal and psychological implications of genetic testing in newborns, children and adolescents [Volume 7, Issue 2, 2018]

F

  • Facial Palsy A report of four patients with Moebius syndrome: New oral anomalies and challenges in dental management [Volume 8, Issue 2, 2019]
  • Familial Mediterranean fever Health-related quality of life in Egyptian patients with familial Mediterranean fever [Volume 11, Issue 1, 2022, Pages 38-45]
  • Familial Mediterranean fever Multiple cytokine analysis in familial Mediterranean fever Egyptian cases using multiplex assay (Luminex technology) as a new inflammatory biomarker for disease activity [Volume 8, Issue 2, 2019]
  • Familial Mediterranean fever Evaluation of the gene expression in Egyptian patients with familial Mediterranean fever [Volume 9, Issue 2, 2020]
  • FANCA Trials for Implementing Cost-effective Fanconi Anemia (FA) Molecular Diagnosis [Volume 11, Issue 2, 2022, Pages 58-64]
  • FANCL Trials for Implementing Cost-effective Fanconi Anemia (FA) Molecular Diagnosis [Volume 11, Issue 2, 2022, Pages 58-64]
  • Fanconi anemia Fanconi and Non-Fanconi anemia: A Single Center Experience of A Large Egyptian Cohort [Volume 11, Issue 1, 2022, Pages 19-28]
  • Fanconi anemia Trials for Implementing Cost-effective Fanconi Anemia (FA) Molecular Diagnosis [Volume 11, Issue 2, 2022, Pages 58-64]
  • Fanconi anemia Exploring Telomere Length in Progeroid Syndromes through Quantitative Fluorescence In-Situ Hybridization (QFISH) [Volume 12, Issue 1, 2023, Pages 1-7]
  • Fanconi anemia Lymphocyte mosaicism in Fanconi anemia: diagnosis and clinical correlation [Volume 9, Issue 2, 2020]
  • Fetal bovine serum Influence of Different Concentrations of Human Platelet Rich Plasma Versus Fetal Bovine Serum on Periodontal Ligament Derived Stem Cells [Volume 11, Issue 1, 2022, Pages 12-18]
  • FGFR3 Autism spectrum disorder and achondroplasia in an Egyptian patient [Volume 10, Issue 2, 2021]
  • Fish analysis Cytogenetic and Clinical Description of Maternally Inherited Pure Trisomy 4p [Volume 13, Issue 1, 2024, Pages 16-20]
  • Follow-up Biochemical evaluations at two time points in 15 patients with nephropathic cystinosis under cysteamine treatment [Volume 10, Issue 2, 2021]
  • Fragile X syndrome Fragile X syndrome clinical and associated comorbidities [Volume 10, Issue 1, 2021]
  • Fragile X syndrome Fragile X syndrome: diagnosis by molecular characterization of gene and clinical correlation [Volume 7, Issue 2, 2018]
  • FUNGAL Screening and Exhibition of Fungal L-glutaminase Enzyme as an Anticancer Agent in Different Egypt Soil Environment [Volume 12, Issue 1, 2023, Pages 1-9]

G

  • GATA4 gene Interstitial 8p deletion in two patients with the expansion of phenotype and possibility of contribution of PINX1 gene and GATA4 rs3729856 variant in absent nails [(Articles in Press)]
  • GATA repeats Genetic study of the association of specific language impairment to markers near gene [Volume 7, Issue 2, 2018]
  • Gaucher disease Biochemical diagnosis of Wolman disease among patients with suspected lysosomal storage diseases [Volume 8, Issue 2, 2019]
  • Gaucher disease Beta-glucocerebrosidase gene mutation in a sample of Egyptian patients with Gaucher disease [Volume 8, Issue 2, 2019]
  • Gaucher disease in Egypt Prenatal counseling and diagnosis of Gaucher disease in Egypt: an 18-year experience [Volume 8, Issue 1, 2019]
  • GBA Beta-glucocerebrosidase gene mutation in a sample of Egyptian patients with Gaucher disease [Volume 8, Issue 2, 2019]
  • Gene Clinical report of Roifman syndrome with vitamin D-dependent rickets – an undocumented association [Volume 10, Issue 1, 2021]
  • Gene Genetic study of the association of specific language impairment to markers near gene [Volume 7, Issue 2, 2018]
  • Gene Genetic characterization of a patient with Cornelia de Lange syndrome with a novel missense mutation [Volume 9, Issue 1, 2020]
  • Gene Evaluation of the gene expression in Egyptian patients with familial Mediterranean fever [Volume 9, Issue 2, 2020]
  • Gene expression Evaluation of the gene expression in Egyptian patients with familial Mediterranean fever [Volume 9, Issue 2, 2020]
  • Gene mutations Orodental abnormalities in limb malformation syndromes: A review article [Volume 9, Issue 1, 2020]
  • Gene polymorphism Cytotoxic T-Lymphocyte Antigen 4 (CTLA-4) Gene Variants in Females with Recurrent Spontaneous Pregnancy Loss [Volume 13, Issue 1, 2024, Pages 1-8]
  • Genetic Bone-specific therapeutic modalities for genetic skeletal diseases [Volume 8, Issue 2, 2019]
  • Genetic Corneal Opacity and Genetics [Volume 12, Issue 2, 2023, Pages 1-12]
  • Genetic disorders Frequent genetic disorders associated with missing teeth and revisiting classification of anodontia: a retrospective study [Volume 10, Issue 2, 2021]
  • Genetics Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants [Volume 11, Issue 1, 2022, Pages 1-11]
  • Genetics Black Immunity: Racial discrimination or genetic susceptibility? [Volume 10, Issue 1, 2021]
  • Genome editing Genome-editing technologies: Advancement, clinical applications, and ethical concerns [Volume 7, Issue 2, 2018]
  • Genotyping A study on the association between − 31T/C and − 511C/T polymorphisms in interleukin-1β gene in Egyptian patients with keratoconus [Volume 8, Issue 2, 2019]
  • Gestational diabetes mellitus Dysregulation of tumor necrosis factor-α and interleukin-6 as predictors of gestational disorders [Volume 7, Issue 2, 2018]
  • GNPTAB gene Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants [Volume 11, Issue 1, 2022, Pages 1-11]
  • GNPTG gene Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants [Volume 11, Issue 1, 2022, Pages 1-11]
  • GPHN Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients [Volume 11, Issue 1, 2022, Pages 29-37]
  • Greece One hundred years since Victor McKusick's birth: a tribute from Greece [Volume 9, Issue 1, 2020]

H

  • HCC Association of epidermal growth factor genotype with angiogenesis in Egyptian hepatocellular carcinoma and cirrhotic patients [Volume 10, Issue 1, 2021]
  • Health-Related Quality of Life Health-related quality of life in Egyptian patients with familial Mediterranean fever [Volume 11, Issue 1, 2022, Pages 38-45]
  • HUGO One hundred years since Victor McKusick's birth: a tribute from Greece [Volume 9, Issue 1, 2020]
  • Hyperphenylalaninemia Clinical, biochemical, and molecular characterization of an Egyptian group of patients with phenylketonuria and hyperphenylalaninemia: A pilot study [Volume 8, Issue 2, 2019]

I

  • Immune system Cytokine profile in a cohort of Egyptian patients with autism spectrum disorders [Volume 10, Issue 2, 2021]
  • Impacted dentition Atypical case of amelogenesis imperfecta and generalized impacted dentitions: dental management and follow ups [Volume 12, Issue 1, 2023, Pages 1-4]
  • Infection Development of mRNA vaccine against Measles virus globally [Volume 12, Issue 1, 2023, Pages 1-10]
  • Insufficiency Assessment of serum level of vitamin D in infants and children with Down syndrome [Volume 7, Issue 2, 2018]
  • Intellectual Disability Fragile X syndrome clinical and associated comorbidities [Volume 10, Issue 1, 2021]
  • Intellectual Disability Fragile X syndrome: diagnosis by molecular characterization of gene and clinical correlation [Volume 7, Issue 2, 2018]
  • Intellectual Disability Cytogenetic study of a large cohort of patients with corpus callosum abnormalities [Volume 8, Issue 2, 2019]
  • Intelligence Quotient Clinical, biochemical, and molecular characterization of an Egyptian group of patients with phenylketonuria and hyperphenylalaninemia: A pilot study [Volume 8, Issue 2, 2019]
  • Interleukin-10 Effect of interleukin-10 polymorphism on susceptibility to type I diabetes in children with latent toxoplasmosis [Volume 9, Issue 1, 2020]
  • Interleukin-6 Dysregulation of tumor necrosis factor-α and interleukin-6 as predictors of gestational disorders [Volume 7, Issue 2, 2018]

K

  • Keratoconus A study on the association between − 31T/C and − 511C/T polymorphisms in interleukin-1β gene in Egyptian patients with keratoconus [Volume 8, Issue 2, 2019]
  • Key words: chromosome 8 deletion Interstitial 8p deletion in two patients with the expansion of phenotype and possibility of contribution of PINX1 gene and GATA4 rs3729856 variant in absent nails [(Articles in Press)]

L

  • L1 Frequency of balanced reciprocal translocations from couples with recurrent miscarriages correlates with the density of Alu and L1 repeat elements: literature finding-based study [Volume 8, Issue 1, 2019]
  • Lalistat 2 Biochemical diagnosis of Wolman disease among patients with suspected lysosomal storage diseases [Volume 8, Issue 2, 2019]
  • L-glutaminase Screening and Exhibition of Fungal L-glutaminase Enzyme as an Anticancer Agent in Different Egypt Soil Environment [Volume 12, Issue 1, 2023, Pages 1-9]
  • L-glutaminase Screening and production of bacterial L-glutaminase as an anticancer agent from different soil environments in Egypt [Volume 12, Issue 1, 2023, Pages 1-12]
  • LncRNA TUG1 gene expression Increased LncRNA TUG1 expression level impacted ankylosing spondylitis risk, association with disability, and patients’ quality of life [Volume 12, Issue 1, 2023, Pages 1-11]
  • Lung Cancer MicroRNA-mediated sensitization of lung cancer cells to chemotherapeutics: the roles of miR-21 and miR-155 [Volume 7, Issue 2, 2018]

M

  • M680I Multiple cytokine analysis in familial Mediterranean fever Egyptian cases using multiplex assay (Luminex technology) as a new inflammatory biomarker for disease activity [Volume 8, Issue 2, 2019]
  • M694I Multiple cytokine analysis in familial Mediterranean fever Egyptian cases using multiplex assay (Luminex technology) as a new inflammatory biomarker for disease activity [Volume 8, Issue 2, 2019]
  • Magnetic Resonance Imaging Corpus callosum abnormalities in 64 Egyptian patients: Neuropsychological and genetic studies [Volume 7, Issue 2, 2018]
  • Male infertility Clinical implementation of sperm DNA fragmentation studies in the assessment of male unexplained infertility [Volume 10, Issue 1, 2021]
  • MAPK signaling pathway Elevated CDR1as may affect CACNG5 and EGFR via hsa-miR-7-5p sponge in childhood dilated cardiomyopathy patients. [Volume 12, Issue 2, 2023, Pages 1-9]
  • McKusick-Kaufman syndrome Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families [Volume 9, Issue 2, 2020]
  • McKusick-Kaufman syndrome gene Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families [Volume 9, Issue 2, 2020]
  • Measles virus Development of mRNA vaccine against Measles virus globally [Volume 12, Issue 1, 2023, Pages 1-10]
  • Microcephaly Clinical and cytogenetic analysis of terminal 22q13.3 deletion in two patients with ring chromosome 22 [Volume 7, Issue 2, 2018]
  • MLPA Phelan–McDermid Syndrome: Expanding the Phenotype [Volume 11, Issue 2, 2022, Pages 46-53]
  • MLPA Hot spots copy number variations, 15q methylation, and SHANK3 single nucleotide polymorphisms study in a group of Egyptian Autistic children [Volume 13, Issue 1, 2024, Pages 21-31]
  • MLPA Genetic Factors Study among Congenital Heart Disease Children Using Multiplex Ligation Dependent Probe Amplification [Volume 12, Issue 2, 2023, Pages 1-10]
  • MLPA Copy Number Variation Study of A Cohort of 46,XY DSD Patients [Volume 13, Issue 1, 2024, Pages 39-49]
  • MoCS1 Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients [Volume 11, Issue 1, 2022, Pages 29-37]
  • MoCS2 Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients [Volume 11, Issue 1, 2022, Pages 29-37]
  • MoCS3 genes Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients [Volume 11, Issue 1, 2022, Pages 29-37]
  • Moebius syndrome A report of four patients with Moebius syndrome: New oral anomalies and challenges in dental management [Volume 8, Issue 2, 2019]
  • Molecular Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants [Volume 11, Issue 1, 2022, Pages 1-11]
  • Mosaic cell line Genetics of Retinoblastoma [Volume 12, Issue 2, 2023, Pages 1-16]
  • MPS VI Mutation analysis of the arylsulfatase B gene among Egyptian patients with Maroteaux–Lamy disorder [Volume 7, Issue 2, 2018]
  • MRI manifestations Cytogenetic and Clinical Description of Maternally Inherited Pure Trisomy 4p [Volume 13, Issue 1, 2024, Pages 16-20]
  • Mucolipidosis Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants [Volume 11, Issue 1, 2022, Pages 1-11]
  • Mucopolysaccharidosis IIIB A rare mutation in an Egyptian family with Sanfilippo B syndrome [Volume 8, Issue 2, 2019]

N

  • NAGLU gene A rare mutation in an Egyptian family with Sanfilippo B syndrome [Volume 8, Issue 2, 2019]
  • Next-generation sequencing Molecular and cytogenetic diagnosis of disorders/differences of sex development: molecular update of genes controlling sexual differentiation [Volume 10, Issue 2, 2021]
  • Niemann-Pick disease Biochemical diagnosis of Wolman disease among patients with suspected lysosomal storage diseases [Volume 8, Issue 2, 2019]
  • NIPT Counseling challenges for prenatal diagnosis [Volume 9, Issue 2, 2020]
  • Nonimmune hydrops fetalis Prenatal Screening of Sialic Acid-Storage Disease in Nonimmune Hydrops Fetalis [Volume 11, Issue 2, 2022, Pages 65-72]

O

  • Obesity Body image, Anxiety, Depression and DNA damage in Obese Egyptian Women [Volume 8, Issue 1, 2019]
  • OMIM One hundred years since Victor McKusick's birth: a tribute from Greece [Volume 9, Issue 1, 2020]
  • Oncolytic agent Screening and Exhibition of Fungal L-glutaminase Enzyme as an Anticancer Agent in Different Egypt Soil Environment [Volume 12, Issue 1, 2023, Pages 1-9]
  • Orthotraction Atypical case of amelogenesis imperfecta and generalized impacted dentitions: dental management and follow ups [Volume 12, Issue 1, 2023, Pages 1-4]
  • Outcome Association of anti-thyroid peroxidase antibody among Euthyroid women with adverse pregnancy outcomes [Volume 12, Issue 1, 2023, Pages 1-9]

P

  • Periodontitis Influence of Different Concentrations of Human Platelet Rich Plasma Versus Fetal Bovine Serum on Periodontal Ligament Derived Stem Cells [Volume 11, Issue 1, 2022, Pages 12-18]
  • PGD Counseling challenges for prenatal diagnosis [Volume 9, Issue 2, 2020]
  • Phelan-McDermid syndrome Phelan–McDermid Syndrome: Expanding the Phenotype [Volume 11, Issue 2, 2022, Pages 46-53]
  • Phenylketonuria Clinical, biochemical, and molecular characterization of an Egyptian group of patients with phenylketonuria and hyperphenylalaninemia: A pilot study [Volume 8, Issue 2, 2019]
  • Polymorphism A study on the association between − 31T/C and − 511C/T polymorphisms in interleukin-1β gene in Egyptian patients with keratoconus [Volume 8, Issue 2, 2019]
  • Polymorphism, Systemic Lupus Erythematosus, TREX1 Role of three-prime repair exonuclease (TREX1) variants in the susceptibility to systemic lupus erythematosus patients [Volume 12, Issue 2, 2023, Pages 1-7]
  • Pregnancy Association of anti-thyroid peroxidase antibody among Euthyroid women with adverse pregnancy outcomes [Volume 12, Issue 1, 2023, Pages 1-9]
  • Prenatal Diagnosis Counseling challenges for prenatal diagnosis [Volume 9, Issue 2, 2020]
  • Primary congenital glaucoma A novel missense variant in CYP1B1 in an Egyptian patient with Primary Congenital Glaucoma [Volume 11, Issue 2, 2022, Pages 54-57]
  • Progeria Exploring Telomere Length in Progeroid Syndromes through Quantitative Fluorescence In-Situ Hybridization (QFISH) [Volume 12, Issue 1, 2023, Pages 1-7]
  • Progeroid syndromes Exploring Telomere Length in Progeroid Syndromes through Quantitative Fluorescence In-Situ Hybridization (QFISH) [Volume 12, Issue 1, 2023, Pages 1-7]
  • Prophylaxis Development of mRNA vaccine against Measles virus globally [Volume 12, Issue 1, 2023, Pages 1-10]

Q

  • QFISH Exploring Telomere Length in Progeroid Syndromes through Quantitative Fluorescence In-Situ Hybridization (QFISH) [Volume 12, Issue 1, 2023, Pages 1-7]

R

  • RB1 gene Genetics of Retinoblastoma [Volume 12, Issue 2, 2023, Pages 1-16]
  • Real-Time PCR MicroRNA-mediated sensitization of lung cancer cells to chemotherapeutics: the roles of miR-21 and miR-155 [Volume 7, Issue 2, 2018]
  • Recurrent spontaneous abortion Chromosomal aberrations and chromosomal heteromorphisms among young couples with recurrent spontaneous abortion [Volume 8, Issue 1, 2019]
  • Recurrent spontaneous abortion Cytotoxic T-Lymphocyte Antigen 4 (CTLA-4) Gene Variants in Females with Recurrent Spontaneous Pregnancy Loss [Volume 13, Issue 1, 2024, Pages 1-8]
  • Retinoblastoma Genetics of Retinoblastoma [Volume 12, Issue 2, 2023, Pages 1-16]
  • Retinoblastoma protein Genetics of Retinoblastoma [Volume 12, Issue 2, 2023, Pages 1-16]
  • Roifman syndrome Clinical report of Roifman syndrome with vitamin D-dependent rickets – an undocumented association [Volume 10, Issue 1, 2021]

S

  • Samia Temtamy Professor Samia Temtamy: the founder of human genetics at the National Research Centre, Egypt [Volume 10, Issue 2, 2021]
  • Sanfilippo B syndrome A rare mutation in an Egyptian family with Sanfilippo B syndrome [Volume 8, Issue 2, 2019]
  • Sex chromosome DSD Study of the Quality of Life in children and adolescents with Disorders of Sex Development (DSD) [Volume 12, Issue 1, 2023, Pages 1-14]
  • SHANK2 Hot spots copy number variations, 15q methylation, and SHANK3 single nucleotide polymorphisms study in a group of Egyptian Autistic children [Volume 13, Issue 1, 2024, Pages 21-31]
  • SHANK3 gene Phelan–McDermid Syndrome: Expanding the Phenotype [Volume 11, Issue 2, 2022, Pages 46-53]
  • SHSF Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate Syndrome (EEC) in Patients with TP63 Variants [Volume 13, Issue 1, 2024, Pages 9-15]
  • Social Functioning Health-related quality of life in Egyptian patients with familial Mediterranean fever [Volume 11, Issue 1, 2022, Pages 38-45]
  • Sox9 Copy Number Variation Study of A Cohort of 46,XY DSD Patients [Volume 13, Issue 1, 2024, Pages 39-49]
  • Specific language impairment Genetic study of the association of specific language impairment to markers near gene [Volume 7, Issue 2, 2018]

T

  • Tandem mass spectrometry Quantification of hemoglobin peptides in Beta-thalassemia patients using tandem mass spectrometry for future national screening program [Volume 9, Issue 1, 2020]
  • Telomere length Exploring Telomere Length in Progeroid Syndromes through Quantitative Fluorescence In-Situ Hybridization (QFISH) [Volume 12, Issue 1, 2023, Pages 1-7]
  • T helper cells Multiple cytokine analysis in familial Mediterranean fever Egyptian cases using multiplex assay (Luminex technology) as a new inflammatory biomarker for disease activity [Volume 8, Issue 2, 2019]
  • Therapeutic modalities Bone-specific therapeutic modalities for genetic skeletal diseases [Volume 8, Issue 2, 2019]
  • THYROID Association of anti-thyroid peroxidase antibody among Euthyroid women with adverse pregnancy outcomes [Volume 12, Issue 1, 2023, Pages 1-9]
  • Torg syndrome A novel matrix metalloproteinase-2 mutation in two Egyptian siblings with Winchester syndrome [Volume 8, Issue 1, 2019]
  • Toxoplasma Effect of interleukin-10 polymorphism on susceptibility to type I diabetes in children with latent toxoplasmosis [Volume 9, Issue 1, 2020]
  • TP63 gene Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate Syndrome (EEC) in Patients with TP63 Variants [Volume 13, Issue 1, 2024, Pages 9-15]
  • Tumor necrosis factor Dysregulation of tumor necrosis factor-α and interleukin-6 as predictors of gestational disorders [Volume 7, Issue 2, 2018]
  • Tumor suppressor gene Genetics of Retinoblastoma [Volume 12, Issue 2, 2023, Pages 1-16]

V

  • Variants Role of three-prime repair exonuclease (TREX1) variants in the susceptibility to systemic lupus erythematosus patients [Volume 12, Issue 2, 2023, Pages 1-7]
  • VEGF Association of epidermal growth factor genotype with angiogenesis in Egyptian hepatocellular carcinoma and cirrhotic patients [Volume 10, Issue 1, 2021]
  • Victor McKusick One hundred years since Victor McKusick's birth: a tribute from Greece [Volume 9, Issue 1, 2020]

W

  • Winchester syndrome A novel matrix metalloproteinase-2 mutation in two Egyptian siblings with Winchester syndrome [Volume 8, Issue 1, 2019]
  • Wolman disease Biochemical diagnosis of Wolman disease among patients with suspected lysosomal storage diseases [Volume 8, Issue 2, 2019]

X

  • X-Inactivation Specific Transcript gene Chromosome therapy: different approaches and current challenges [Volume 10, Issue 1, 2021]
  • XY DSD Copy Number Variation Study of A Cohort of 46,XY DSD Patients [Volume 13, Issue 1, 2024, Pages 39-49]