Population record
Saudi Arabia · 12 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| population | Saudi Arabia | “Genetic variants in VWF exon 26 and their implications for type 1 Von Willebrand disease in a Saudi Arabian population. Sanger sequencing of the exonic and flanking intronic regions of exon 26 was performed on 22 index cases clinically diagnosed with VWD1 and their first-degree relatives. However, findings suggest a higher prevalence of specific VWF variants within the Saudi population compared to global databases.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses. The genetic defects have not been studied in the Saudi patients. AIM OF STUDY: We investigated mutation spectrum of EXT1 and EXT2 in 22 patients from 17 unrelated families. In total, EXT1 and EXT2 mutations were found in 77% (13/17) of Saudi HME patients. CONCLUSION: EXT1 and EXT2 mutations contribute significantly to the pathogenesis of HME in the Saudi population. In contrast to high mutation rate in EXT 1 (65%) and low mutation rate in EXT2 (25%) in other populations, the frequency of EXT2 mutations are much higher (41%) and comparable to that of EXT1 among Saudi patients.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Targeted next-generation sequencing reveals novel and known variants of thrombophilia associated genes in Saudi patients with venous thromboembolism. Pathogenic variants were identified in 22 patients demonstrating mutation detection rates of 76%.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “METHODS: We performed whole-exome sequencing (WES) in 22 Saudi SCD patients to identify variants that could explain differences in disease phenotypes.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The article is a report of a retrospective evaluation of the long-term effects of PGE1 in a neonatal intensive care unit in Saudi Arabia. There were 22 subjects with a wide spectrum of cardiac defects maintained on PGE1 for a mean of 38 days (range: 6-200 days).” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi Arabia. RESULTS: This study was carried out by high density whole genome array-CGH analysis with blood DNA samples from a cohort of 22 epilepsy patients to search for CNVs associated with epilepsy. CONCLUSION: We have described, for the first time, several novel CNVs/genes implicated in epilepsy in the Saudi population.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. RESULTS: We report the molecular genetic basis of T-B-NK+ SCID in 22 patients and of OS in seven patients all of Arab descent from Saudi Arabia. Seven (24%) patients lack a known genetic aetiology, strongly suggesting that they carry mutations in novel genes associated with SCID and Omenn disorders that are yet to be discovered in the Saudi population.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “METHODS: This study was carried out from January 2007 to February 2009, in the Radiology Department of King Fahd Military Medical Complex, Dhahran, Kingdom of Saudi Arabia. The study consists of 22 patients with SCD ranging from 6-17 years, excluding those with a recent change in brain function.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Darier-White disease in a Saudi patient associated with systemic involvement. A 22 year-old Saudi patient is reported who had Darier-White disease (Keratosis follicularis), presenting with the classical cutaneous manifestation of this disease in addition to systemic symptoms, including chronic renal failure, mental retardation, epilepsy, cataract and corneal opacities.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Cell lines were established from fresh tumor biopsies from two Saudi patients with poorly differentiated nasopharyngeal carcinoma (NPC). The rearrangements involving chromosomes X, 1, 4, 6, 7, 8, 12, 13, 15, 17, and 22 in the first patient and 1, 6, and 22 in the second patient could represent clonal evolution.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Sickle cell-beta 0-thalassaemia in Saudi Arabia. During an extensive investigation to determine the frequency of sickle cell and thalassaemia genes in the Saudi population, 22 cases with S/beta 0-thalassaemia were identified and the haematological, biochemical and clinical findings were compared with those in patients with sickle cell anaemia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Hb F synthesis in sickle cell anaemia: a comparison of Saudi Arab cases with those of African origin. Fetal haemoglobin (Hb F) synthesis has been studied in 22 cases of sickle cell anemia (SS) from Saudi Arabia and compared with an equal number of cases of African origin. Among the Saudi Arabs gamma chain synthesis ranged from 4.0% to 19.9% of the total non-alpha chain synthesis (mean 8.1%) while the corresponding range for the Negro cases was < 0.3% to 4.6% (mean 1.7%). Among the Saudi Arab cases there was a significant negative correlation between the degree of F cell enrichment and either the Hb F level of the percentage gamma chain synthesis.” | 0.95 | saudi_context_rules_v1 |