Ibrahim Alabdulkareem

Learn More
Although there is a long list of syndromes with phocomelia, there are only two syndromes in which there is concurrent pelvic dysplasia and phocomelia: Al-Awadi-Raas-Rothschild syndrome (AARRS) and Schinzel phocomelia syndrome (SPS). Currently, there is a diagnostic confusion between the two syndromes and both have the same MIM entry (MIM 276820). We believe(More)
The aim of this study was to determine the attitude of Saudi Arabians to research involving storage and use of human tissues from which genetic information may be derived and to assess their willingness to donate tissue samples to biobanks. In a cross-sectional interview study of 1051 outpatients at a hospital in Riyadh city, 68.8% had a positive attitude(More)
HCV genotype 4 is highly prevalent in many Middle Eastern countries, yet little is known about the genotype's epidemic history at the subtype-level in this region. To address the dearth of data from Saudi Arabia (SA) we genotyped 230 HCV isolates in the core/E- and NS5B-region and analyzed using Bayesian phylogenetic approaches. HCV genotype 4 (HCV/4) was(More)
Liebenberg syndrome (MIM 186550) is a very rare autosomal dominant condition characterized by three main features: dysplasia of all of the bony components of the elbow joint, abnormalities in the shape of carpal bones, and brachydactyly. In this paper, we report a Saudi Arabian family with Liebenberg syndrome. Comparative genomic hybridization (CGH)(More)
B-cells of the high-grade non-Hodgkin lymphoma Burkitt's lymphoma (BL) overexpress survival oncoproteins, including the proviral integration site for Moloney murine leukaemia virus kinase (Pim)-1, and become apoptosis resistant. Activated death receptor CD95 after ligation with anti-CD95 monoclonal antibody (mAb) resulted in the regression of BL via(More)
AIMS To investigate the extent of CCR5 polymorphism in the healthy Saudi population. METHOD A total of 321 healthy Saudi individuals were sequenced using the ion Ampliseq™ Exome kit (Life Technologies, USA) on genomic DNA following manufacturer's protocol. Whole Exome Sequencing (WES) reads were aligned to the human reference genome (hg19 build) with(More)
Nail-patella syndrome (NPS) is a rare autosomal dominant disorder that is highly penetrant with marked phonotypical variability among interand intra-familial cases. We describe here a full-term newborn baby girl with a characteristic phenotype of familial bilateral symmetrical hypoplastic nails of the upper limbs and small patellae were displaced by(More)
We have fully sequenced the genome of an individual from the region of Saudi Arabia. In order to facilitate comparative analysis, an initial characterization of the new genome was undertaken based on single nucleotide polymorphism (SNP). The SNP data having associated population statistics, essentially the HapMap, served to identify features that were rare(More)
  • 1