A5047217789- Genomic variations and chromosomal abnormalities
- Genetic Syndromes and Imprinting
- Prenatal Screening and Diagnostics
- RNA modifications and cancer
- ZnO doping and properties
- Inorganic and Organometallic Chemistry
- Down syndrome and intellectual disability research
- Copper-based nanomaterials and applications
- Craniofacial Disorders and Treatments
- Chromosomal and Genetic Variations
- Quantum Dots Synthesis And Properties
- Genetics and Neurodevelopmental Disorders
- Genetic factors in colorectal cancer
- Fetal and Pediatric Neurological Disorders
- Genomics and Rare Diseases
- Hedgehog Signaling Pathway Studies
- Hemoglobinopathies and Related Disorders
- Ocular Oncology and Treatments
- Oral and gingival health research
- Cancer-related Molecular Pathways
- Congenital Ear and Nasal Anomalies
- Ocular Disorders and Treatments
- Connective tissue disorders research
- Thin-Film Transistor Technologies
- Chromatin Remodeling and Cancer
National Research Centre
2016-2025
Agricultural Genetic Engineering Research Institute
2023
National Water Research Center
1994-2014
Minia University
1995
Laboratoire de physique des Solides
1985
Centre National de la Recherche Scientifique
1985
Al-Azhar University
1979
Primordial dwarfism is a state of extreme prenatal and postnatal growth deficiency, characterized by marked clinical genetic heterogeneity. Two presumably unrelated consanguineous families presented with an apparently novel form primordial in which severe deficiency accompanied distinct facial dysmorphism, brain malformation (microcephaly, agenesis corpus callosum, simplified gyration), encephalopathy seizures. Combined autozygome/exome analysis revealed missense mutation WDR4 as the likely...
WWOX, encoding WW domain-containing oxidoreductase, spans FRA16D, the second most common chromosomal fragile site frequently altered in cancers. It is therefore considered a tumor suppressor gene, but its direct implication cancerogenesis remains controversial. By whole-exome sequencing, we identified homozygous WWOX nonsense mutation, p.Arg54*, girl from consanguineous family with severe syndrome of growth retardation, microcephaly, epileptic seizures, retinopathy and early death, phenotype...
Abstract Wolcott–Rallison syndrome (WRS) and the recently delineated microcephaly with simplified gyration, epilepsy, permanent neonatal diabetes (MEDS) are clinically overlapping autosomal recessive disorders characterized by early onset diabetes, skeletal defects, growth retardation. While liver renal symptoms more severe in WRS, neurodevelopmental characteristics pronounced MEDS patients, which uncontrolled epilepsy uniformly present. Mutations EIF2AK3 gene were described patients WRS...
Thalassemia is a disorder of hemoglobin (Hb) synthesis characterized by chronic hemolysis. In β-thalassemias major (β-TM), patients require regular transfusion at an early age due to severe anemia. Subsequently, intensive chelation therapy initiated mitigate the effects resultant iron overload. Clinical disease burden and demanding treatment can affect health-related quality life (HRQoL) outcomes in this population. The aim study was assess HRQoL Egyptian pediatric thalassemia patients....
The study establishes the importance of genetic background for expression Down syndrome phenotype.To define ocular manifestations in infants and children Cairo, Egypt, a historically isolated region, compare them with systemic features findings other geographic groups.We prospectively studied status 90 monitored all patients 3 years. complete ophthalmic examinations were performed along ultrasonography, if media opacities evident. Thyroid cardiac assessed. An extensive literature search...
Abstract A 13‐year‐old Egyptian girl with generalized hypertrichosis, gingival hyperplasia, coarse facial appearance, no cardiovascular or skeletal anomalies, keloid formation, and multiple labial frenula was referred to our clinic for counseling. Molecular analysis of the ABCC 9 gene showed a de novo missense mutation located in exon 27, which has been described previously Cantu syndrome. An overlap between syndrome, acromegaloid hypertrichosis features disorder is apparent at phenotypic...
Abstract The aim of the study was to construct new reference growth charts for weight, length and head circumference Egyptian children with Down syndrome (DS) from birth 36 months age. These specific may be used by health professionals involved in medical, physical developmental care syndrome. included 434 non‐disjunction trisomy 21, 0–36 They were 54.4% males 45.6% females had no concomitant chronic disease (congenital heart disease, gastrointestinal malformations, hypothyroidism, blood...
Abstract Recurrent and severe infections occurred in children with Down Syndrome (DS) due to immunological parameter defects have been reported. The aim of the study is evaluate importance using T-cell receptor excision circle (TREC) kappa-deleting recombination (KREC) as molecular markers for investigation DS. included 40 non-disjunction trisomy 21 confirmed DS children, 25 healthy controls. Peripheral blood (PB) was analyzed lymphocyte subpopulations by flow cytometry, serum immunoglobulin...
The aim of this investigation was to study the epidemiologic and genetic aspects mental subnormality (MS) in Assiut Governorate, representing Egyptian population. sample comprised 3000 randomly selected subjects from three localities: one urban (Assiut City) two adjacent rural villages. Age-matched controls were chosen for comparison. Stanford-Binet test administered each individual. During history-taking special attention paid consanguinity categorization on a basis. results revealed 116...
Roberts syndrome and SC phocomelia are rare autosomal recessive genetic disorders representing the extremes of spectrum severity same condition, caused by mutations in ESCO2 gene. We report three new patients with from unrelated consanguineous Egyptian families. All presented growth retardation, mesomelic shortening limbs more upper than lower microcephaly. Patients were subjected to clinical, cytogenetic radiologic examinations. Cytogenetic analysis showed characteristic premature...
Coffin–Siris syndrome is a rare congenital malformation and intellectual disability syndrome. Mutations in at least seven genes have been identified. Here, we performed copy number analysis 37 patients with features of CSS whom no causative mutations were identified by exome sequencing. We patient 9p24.3–p22.2 duplication another the chromosome der(6)t(6;9)(p25;p21)mat. Both share duplicated 15.8‐Mb region containing 46 protein coding genes, including SMARCA2 . Dominant negative effects may...
A study established growth and velocity curves for weight, length head circumference in 350 Egyptian Down syndrome children (188 males 162 females) from 0-36 months. had poorer variables than normal healthy through the first 3 years of life. with associated congenital heart disease (90 cases) significantly lower especially girls, compared those without disease. In 2 years, weight were higher females males, while was males. boys slightly
Oto-spondylo-megaepiphyseal dysplasia (OSMED) is a very rare disorder due to mutation of type XI collagen. Less than 30 patients have been reported in the literature so far. It could be either autosomal dominant (OMIM 154780) or recessive 215150) etiology. Two sibs with OSMED are presented. They had disproportionate short stature and limbs, distinct face midface hypoplasia, nose, depressed nasal bridge, long philtrum, non-progressive sensorineural deafness. Radiological findings showed bones...
PCNT encodes a large coiled- protein localizing to pericentriolar material and is associated with microcephalic osteodysplastic primordial dwarfism type II syndrome (MOPD II). We report our experience of nine new patients from seven unrelated consanguineous Egyptian families the distinctive clinical features MOPD in whom customized NGS panel showed homozygous truncating variants PCNT. The results were validated thereafter using Sanger sequencing revealing three previously reported novel...