Aida M. S. Salem
A5111141824- Fetal and Pediatric Neurological Disorders
- Congenital heart defects research
- Genomics and Rare Diseases
- Hemophilia Treatment and Research
- Craniofacial Disorders and Treatments
- Coronary Artery Anomalies
- Genetics and Neurodevelopmental Disorders
- Reproductive Physiology in Livestock
- Genetic and Kidney Cyst Diseases
- Congenital Heart Disease Studies
- Congenital Diaphragmatic Hernia Studies
- Mitochondrial Function and Pathology
- Livestock Management and Performance Improvement
- Genetic and phenotypic traits in livestock
Beni-Suef University
2024-2025
Kafrelsheikh University
2017
Meningomyelocele is one of the most severe forms neural tube defects (NTDs) and frequent structural birth defect central nervous system. We assembled Spina Bifida Sequencing Consortium to identify causes. Exome genome sequencing 715 parent-offspring trios identified six patients with chromosomal 22q11.2 deletions, suggesting a 23-fold increased risk compared general population. Furthermore, analysis separate deletion cohort suggested 12- 15-fold NTD meningomyelocele. The loss
Abstract Meningomyelocele (MM) is considered a genetically complex disease resulting from failure of neural tube closure (NTD). Patients display neuromotor disability and frequent hydrocephalus requiring ventricular shunting. A few proposed genes contribute to susceptibility, but most risk remains unexplained 1 . We postulated that de novo mutations (DNMs) under purifying selection MM 2 Here we recruited cohort 851 trios shunting at birth, compared with 732 control trios, found likely gene...
The purpose of this study was to estimate the genetic and phenotypic parameters in order obtain trends 305˗day milk yield (305˗DMY) lactation period (LP), calving interval (CI) days open (DO) Friesian cows.Data consisted 5728 records for 2040 cows sired by 139 bulls during years from 1979 2016 at Sakha El-Karada Farms inherent Animal Production Research Institute (APRI), Kafr-Elsheikh Governorate, Egypt.Data were analyzed using Harvey program statistic (Harvey, 1990) determine fixed effects...
We identified two homozygous truncating variants in GON4L [NM_001282860.2:c.62_63del, p.(Gln21Argfs*12) and c.5517+1G>A] unrelated families who presented prenatal-onset growth impairment, microcephaly, characteristic face, situs inversus, developmental delay. The frameshift variant is predicted to invoke nonsense-mediated mRNA decay of all five known isoforms resulting the complete loss function. splice site located at a region specific longer isoforms; therefore, defects long may explain...
Background/Objectives: Hemophilia A is an X-linked recessive illness produced by a deficiency of coagulation factor VIII. This study aimed to evaluate serum vitamin D in hemophilic pediatric patients and its correlation with joint health quality life. Methods: case-control was performed on ninety children under the age 18 years old separated into two groups: group 45 hemophilia control healthy at outpatient hematology clinic Beni-Suef University hospitals. Results: Serum levels were...