Khaled K Abu-Amero

Summary

Publications

  1. pmc Down-regulation of OPA1 in patients with primary open angle glaucoma
    Thomas M Bosley
    Ophthalmic Genetics Laboratory and Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Mol Vis 17:1074-9. 2011
  2. pmc Leber's Hereditary Optic Neuropathy: The Mitochondrial Connection Revisited
    Khaled K Abu-Amero
    Department of Ophthalmology, Ophthalmic Genetics Laboratory, College of Medicine, King Saud University, P O Box 245, Riyadh 11411, Saudi Arabia
    Middle East Afr J Ophthalmol 18:17-23. 2011
  3. doi request reprint Total antioxidant level is correlated with intra-ocular pressure in patients with primary angle closure glaucoma
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, PO Box 245, Riyadh 11411, Saudi Arabia
    BMC Res Notes 7:163. 2014
  4. ncbi request reprint Decreased total antioxidants in patients with primary open angle glaucoma
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Curr Eye Res 38:959-64. 2013
  5. ncbi request reprint Advanced techniques in molecular genetics and its implications on genetic testing and screening in the Arabian peninsula
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia Tel 966 11 2825290 Fax 966 11 4775724 E mail
    Saudi Med J 34:995-1001. 2013
  6. pmc A catalase promoter variant rs1001179 is associated with visual acuity but not with primary angle closure glaucoma in Saudi patients
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia, PO Box 245, Riyadh 11411, Saudi Arabia
    BMC Med Genet 14:84. 2013
  7. doi request reprint Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Ophthalmic Genet 34:90-6. 2013
  8. pmc Mitochondrial genetic background in Ghanaian patients with primary open-angle glaucoma
    Khaled K Abu-Amero
    Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Mol Vis 18:1955-9. 2012
  9. pmc Lack of association of SNP rs4236601 near CAV1 and CAV2 with POAG in a Saudi cohort
    Khaled K Abu-Amero
    Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Mol Vis 18:1960-5. 2012
  10. pmc Lack of association between LOXL1 gene polymorphisms and primary open angle glaucoma in the Saudi Arabian population
    Khaled K Abu-Amero
    Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Ophthalmic Genet 33:130-3. 2012

Detail Information

Publications84

  1. pmc Down-regulation of OPA1 in patients with primary open angle glaucoma
    Thomas M Bosley
    Ophthalmic Genetics Laboratory and Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Mol Vis 17:1074-9. 2011
    ....
  2. pmc Leber's Hereditary Optic Neuropathy: The Mitochondrial Connection Revisited
    Khaled K Abu-Amero
    Department of Ophthalmology, Ophthalmic Genetics Laboratory, College of Medicine, King Saud University, P O Box 245, Riyadh 11411, Saudi Arabia
    Middle East Afr J Ophthalmol 18:17-23. 2011
    ..Therefore, the mitochondria-LHON connection needs to be revisited and examined closely. This review will attempt to do that and provide an update on various aspects of LHON...
  3. doi request reprint Total antioxidant level is correlated with intra-ocular pressure in patients with primary angle closure glaucoma
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, PO Box 245, Riyadh 11411, Saudi Arabia
    BMC Res Notes 7:163. 2014
    ..Additionally, we aim to investigate the association of various PACG clinical indices with TAS level...
  4. ncbi request reprint Decreased total antioxidants in patients with primary open angle glaucoma
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Curr Eye Res 38:959-64. 2013
    ..Additionally, we aim to investigate the association of various POAG clinical indices with TAS level...
  5. ncbi request reprint Advanced techniques in molecular genetics and its implications on genetic testing and screening in the Arabian peninsula
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia Tel 966 11 2825290 Fax 966 11 4775724 E mail
    Saudi Med J 34:995-1001. 2013
    ....
  6. pmc A catalase promoter variant rs1001179 is associated with visual acuity but not with primary angle closure glaucoma in Saudi patients
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia, PO Box 245, Riyadh 11411, Saudi Arabia
    BMC Med Genet 14:84. 2013
    ..To Investigate whether the g.4760C>T polymorphism in the promoter region of the catalase gene (CAT) is a risk factor for primary angle closure glaucoma (PACG) in the Saudi population...
  7. doi request reprint Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Ophthalmic Genet 34:90-6. 2013
    ..To evaluate possible monogenic and chromosomal anomalies in a patient with bilateral Duane retraction syndrome and hearing impairment resulting in a phenotype resembling the HOXA1 spectrum disorder...
  8. pmc Mitochondrial genetic background in Ghanaian patients with primary open-angle glaucoma
    Khaled K Abu-Amero
    Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Mol Vis 18:1955-9. 2012
    ..This prompted us to test the role of mtDNA haplogroups in the incidence of POAG in the Ghanaian population who has a high frequency of L2 lineages...
  9. pmc Lack of association of SNP rs4236601 near CAV1 and CAV2 with POAG in a Saudi cohort
    Khaled K Abu-Amero
    Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Mol Vis 18:1960-5. 2012
    ..To determine the role of the recently discovered primary open angle glaucoma (POAG) single nucleotide polymorphism (SNP) rs4236601 near the caveolin-1 (CAV1) and CAV2 among patients and controls from Saudi Arabia...
  10. pmc Lack of association between LOXL1 gene polymorphisms and primary open angle glaucoma in the Saudi Arabian population
    Khaled K Abu-Amero
    Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Ophthalmic Genet 33:130-3. 2012
    ..To investigate whether major single nucleotide polymorphisms (SNPs) in the LOXL1 gene associated with pseudoexfoliation glaucoma are associated with primary open angle glaucoma (POAG) in the Saudi Arabian population...
  11. pmc Absence of altered expression of optineurin in primary open angle glaucoma patients
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Mol Vis 18:1421-7. 2012
    ..To investigate the expression level of the optineurin gene (OPTN) in the blood of primary open angle glaucoma (POAG) patients to determine if altered expression is playing a role in primary open angle glaucoma systemically...
  12. pmc Unaltered myocilin expression in the blood of primary open angle glaucoma patients
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Mol Vis 18:1004-9. 2012
    ..To investigate the expression of the myocilin gene (MYOC) in the blood of primary open angle glaucoma (POAG) patients to determine if altered systemic expression is playing a role...
  13. pmc A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case report
    Khaled K Abu-Amero
    Molecular Genetics Laboratory, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    J Med Case Reports 3:77. 2009
    ..The spectrum of mitochondrial DNA mutations in Arab patients with MELAS is largely unknown...
  14. pmc Mitochondrial DNA haplogroup H structure in North Africa
    Hajer Ennafaa
    Laboratory of Genetics, Immunology and Human Pathology at the Faculty of Sciences of Tunis, Faculty of Sciences of Tunis, University El Manar I, Tunis, Tunisia
    BMC Genet 10:8. 2009
    ..The dissection of the mtDNA haplogroup H in North Africa, and its comparison with the Iberian Peninsula and Near-East profiles would help clarify the relative affinities among these regions...
  15. doi request reprint Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    J Neurol Sci 276:22-6. 2009
    ..The ROBO3 gene does not appear to have an obvious hot spot area for mutations; therefore, we recommend sequencing all exons and exon-intron boundaries in patients with clinical and/or radiologic features of HGPPS...
  16. pmc Absence of mtDNA mutations in leukocytes of CADASIL patients
    Khaled K Abu-Amero
    Mitochondrial Research Laboratory, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    BMC Res Notes 1:16. 2008
    ..Additionally, it was proposed that NOTCH3 gene mutations may predispose the mitochondrial DNA (mtDNA) to mutations...
  17. pmc Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation
    Khaled K Abu-Amero
    Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Mol Vis 17:2911-9. 2011
    ....
  18. ncbi request reprint GSTM1 and GSTT1 deletion genotypes in various spontaneous optic neuropathies in Arabs
    K K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, PO Box 245, Riyadh 11411, Saudi Arabia
    Br J Ophthalmol 93:1101-4. 2009
    ..To investigate whether the prevalence GSTT1 and GSTM1 deletion genotypes (T0M1, T1M0 and T0M0) are increased in certain spontaneous optic neuropathies...
  19. pmc High-resolution analysis of DNA copy number alterations in patients with isolated sporadic keratoconus
    Khaled K Abu-Amero
    Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Mol Vis 17:822-6. 2011
    ..To determine whether patients with sporadic, non-familial keratoconus and no pathogenic mutations in the visual system homeobox 1 (VSX1) gene have evidence of chromosomal copy number alterations...
  20. pmc Mitochondrial DNA lineages of African origin confer susceptibility to primary open-angle glaucoma in Saudi patients
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Mol Vis 17:1468-72. 2011
    ..This encouraged us to extend our work and assess whether mtDNA diagnostic polymorphisms, defining geographically structured haplogroups, could be associated with the development of POAG...
  21. doi request reprint Horizontal gaze palsy and progressive scoliosis due to a deleterious mutation in ROBO3
    Khaled K Abu-Amero
    Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Ophthalmic Genet 32:231-6. 2011
    ..To describe a family with horizontal gaze palsy and progressive scoliosis with a deleterious mutation in the ROBO3 gene...
  22. doi request reprint Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Ophthalmic Genet 32:212-6. 2011
    ..To describe clinical and genetic observations in a patient with horizontal gaze palsy and progressive scoliosis (HGPPS) without identified mutations in the ROBO3 gene...
  23. pmc Decreased total antioxidants status in the plasma of patients with pseudoexfoliation glaucoma
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Mol Vis 17:2769-75. 2011
    ..Additionally, we aim to investigate the effect of the combined action of the lysyl oxidase-like 1 (LOXL1) mutation status with TAS level on the development of PEG...
  24. pmc Susceptibility to primary angle closure glaucoma in Saudi Arabia: the possible role of mitochondrial DNA ancestry informative haplogroups
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Mol Vis 17:2171-6. 2011
    ..This result prompted us to extend our work using a significant larger Saudi PACG cohort and more healthy controls...
  25. pmc Mitochondrial DNA structure in the Arabian Peninsula
    Khaled K Abu-Amero
    Mitochondrial Research Laboratory, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    BMC Evol Biol 8:45. 2008
    ....
  26. pmc Eurasian and Sub-Saharan African mitochondrial DNA haplogroup influences pseudoexfoliation glaucoma development in Saudi patients
    Khaled K Abu-Amero
    Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Mol Vis 17:543-7. 2011
    ..To investigate whether different mitochondrial DNA (mtDNA) haplogroups have a role on the development of pseudoexfoliation glaucoma (PEG) in the Saudi Arab population...
  27. pmc The interactive role of type 2 diabetes mellitus and E-selectin S128R mutation on susceptibility to coronary heart disease
    Khaled K Abu-Amero
    Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia
    BMC Med Genet 8:35. 2007
    ..Such interactions may involve gene mutations and disease conditions such as type 2 diabetes mellitus (DM2) predisposing individuals to acquiring the disease...
  28. pmc High-resolution analysis of DNA copy number alterations in patients with primary open-angle glaucoma
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, Ophthalmic Genetics Laboratory, Riyadh, Saudi Arabia
    Mol Vis 15:1594-8. 2009
    ..To determine whether patients with isolated primary open-angle glaucoma (POAG) have evidence of chromosomal copy number alterations...
  29. doi request reprint The role of mitochondrial haplogroups in non-arteritic anterior ischemic optic neuropathy
    Khaled K Abu-Amero
    Mitochondrial Research Laboratory, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    Ophthalmic Genet 29:111-6. 2008
    ..To investigate a possible association between mitochondrial haplogroups and non-arteritic anterior ischemic optic neuropathy (NAION)...
  30. pmc Saudi Arabian Y-Chromosome diversity and its relationship with nearby regions
    Khaled K Abu-Amero
    Molecular Genetics Laboratory, College of Medicine, King Saud University, Riyadh 11411, Saudi Arabia
    BMC Genet 10:59. 2009
    ..In addition, haplotypic diversity for its most prominent J1-M267 lineage was estimated using a set of 17 Y-specific STR loci...
  31. pmc A novel PTCH1 germline mutation distinguishes basal cell carcinoma from basaloid follicular hamartoma: a case report
    Ali Hellani
    Molecular Genetics Laboratory, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    J Med Case Reports 3:52. 2009
    ..The disorder results from mutations in the PTCH1 gene...
  32. pmc Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia
    Khaled K Abu-Amero
    Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, SaudiArabia
    Mol Vis 17:667-72. 2011
    ..To screen the visual system homebox 1 (VSX1) gene in Saudi Arabian keratoconus patients...
  33. pmc Analysis of LOXL1 polymorphisms in a Saudi Arabian population with pseudoexfoliation glaucoma
    Khaled K Abu-Amero
    Ophthalmic Genetics Laboratory, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Mol Vis 16:2805-10. 2010
    ..To investigate whether single nucleotide polymorphisms (SNPs) in the lysyl oxidase-like 1 (LOXL1) gene are associated with pseudoexfoliation glaucoma (PEG) in the Saudi Arabian population...
  34. doi request reprint Ophthalmologic abnormalities in a de novo terminal 6q deletion
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Ophthalmic Genet 31:1-11. 2010
    ..To correlate the clinical phenotype with the genotype of a boy with a terminal deletion of chromosome 6q and to compare these observations to previous reports of 6q deletions and review of the literature...
  35. doi request reprint Genome-wide expression profile of LHON patients with the 11778 mutation
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Br J Ophthalmol 94:256-9. 2010
    ..To obtain a whole genome-expression profile in Leber hereditary optic neuropathy (LHON), patients with the 11,778 mitochondrial DNA mutation...
  36. pmc A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation
    Khaled K Abu-Amero
    Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    BMC Med Genet 11:135. 2010
    ..Previous studies focusing on candidate genes and chromosomal regions identified several copy number variations (CNVs) associated with increased risk of autism or autism spectrum disorders (ASD)...
  37. pmc The clinical spectrum of homozygous HOXA1 mutations
    Thomas M Bosley
    The Neuro ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Am J Med Genet A 146:1235-40. 2008
    ..These individuals blur the clinical distinctions between the BSAS and ABDS HOXA1 variants and broaden the phenotype and genotype of the homozygous HOXA1 mutation clinical spectrum...
  38. ncbi request reprint Nuclear and mitochondrial analysis of patients with primary angle-closure glaucoma
    Khaled K Abu-Amero
    Mitochondrial Research Laboratory, Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Invest Ophthalmol Vis Sci 48:5591-6. 2007
    ..In this study, patients with primary angle-closure glaucoma (PACG) were examined for mutations in nuclear genes reported to be associated with glaucoma and for possible mitochondrial abnormalities...
  39. ncbi request reprint Mitochondrial abnormalities in patients with primary open-angle glaucoma
    Khaled K Abu-Amero
    Mitochondrial Research Laboratory of the Genetics Department, King Fasail Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Invest Ophthalmol Vis Sci 47:2533-41. 2006
    ..The pathologic mechanism(s) of POAG remain unknown but may include retinal ganglion cell apoptosis, which causes progressive damage to axons at the optic nerve head...
  40. pmc T null and M null genotypes of the glutathione S-transferase gene are risk factor for CAD independent of smoking
    Khaled K Abu-Amero
    Department of Genetics, King Faisal Specialist Hospital and Research Centre MBC 03, P O Box 3354, Riyadh 11211, Saudi Arabia
    BMC Med Genet 7:38. 2006
    ..The association of the deletion in GSTT1 and GSTM1 genes with coronary artery disease (CAD) among smokers is controversial. In addition, no such investigation has previously been conducted among Arabs...
  41. doi request reprint The mitochondrial DNA variant 16189T>C is associated with coronary artery disease and myocardial infarction in Saudi Arabs
    Khaled K Abu-Amero
    Molecular Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Genet Test Mol Biomarkers 14:43-7. 2010
    ..Our results suggested that the impact of mtDNA polymorphism on CAD manifestation is influenced by important confounders, particularly the presence of myocardial infarction, hypertension, and age...
  42. ncbi request reprint Prevalence of the 20210 G-->A prothrombin variant and its association with coronary artery disease in a Middle Eastern Arab population
    Khaled K Abu-Amero
    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    Arch Pathol Lab Med 126:1087-90. 2002
    ..Additionally, to date, studies that attempt to establish this polymorphism as an independent risk factor or as a predictor for coronary artery disease (CAD) have yielded conflicting results...
  43. pmc Glutathione S-transferase M1 and T1 polymorphisms in Arab glaucoma patients
    Khaled K Abu-Amero
    Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Mol Vis 14:425-30. 2008
    ..In humans, GSTT1 and GSTM1 deletion genotypes (T0M1, T1M0, and T0M0) are associated with a variety of pathologic processes including certain ophthalmologic diseases...
  44. ncbi request reprint Association of mitochondrial haplogroups H and R with keratoconus in Saudi Arabian patients
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Invest Ophthalmol Vis Sci 55:2827-31. 2014
    ..To test this hypothesis we determined mitochondrial haplogroups in Saudi patients with keratoconus and healthy controls of same ethnicity...
  45. pmc E-selectin S128R polymorphism and severe coronary artery disease in Arabs
    Khaled K Abu-Amero
    Genetics Department, King Faisal Specialist Hospital and Research Centre MBC 03, P, O, Box 3354, Riyadh 11211, Saudi Arabia
    BMC Med Genet 7:52. 2006
    ..The E-selectin p. S128R (g. A561C) polymorphism has been associated with the presence of angiographic coronary artery disease (CAD) in some populations, but no data is currently available on its association with CAD in Arabs...
  46. pmc Eurasian and African mitochondrial DNA influences in the Saudi Arabian population
    Khaled K Abu-Amero
    Mitochondrial Research Laboratory, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    BMC Evol Biol 7:32. 2007
    ..A phylogeny of the most abundant haplogroup (preHV)1 (R0a) was constructed based on 13 whole mtDNA genomes...
  47. doi request reprint Optic disk and white matter abnormalities in a patient with a de novo 18p partial monosomy
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Ophthalmic Genet 31:147-54. 2010
    ..Neuro-ophthalmologic and neuroimaging features of partial chromosome 18p deletion syndromes have not yet been fully described...
  48. pmc The role of mitochondrial haplogroups in glaucoma: a study in an Arab population
    Khaled K Abu-Amero
    Mitochondrial Research Laboratory, Department of Genetics, King Faisal Specialist Hospital, Riyadh, Saudi Arabia
    Mol Vis 14:518-22. 2008
    ..Glaucoma prevalence can vary geographically and ethnically, which suggests that a genetic element could play a significant role. Studies investigating the role of various mitochondrial haplogroups in the pathogenesis of glaucoma are scarce...
  49. ncbi request reprint Lack of association of lipoprotein lipase gene polymorphisms with coronary artery disease in the Saudi Arab population
    Khaled K Abu-Amero
    Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Arch Pathol Lab Med 127:597-600. 2003
    ..In addition, none of these studies attempted to establish such an association in the Arab population...
  50. ncbi request reprint Beta 3 adrenergic receptor Trp64Arg polymorphism and manifestation of coronary artery disease in Arabs
    Khaled K Abu-Amero
    Department of Genetics, King Faisal Specialist Hospital and Research Center MBC 03, P O Box 3354, Riyadh 11211, Saudi Arabia
    Hum Biol 77:795-802. 2005
    ..In conclusion, the Trp64Arg polymorphism of the beta3-AR gene does not represent an independent risk factor for CAD in Arabs. However, in the presence of other CAD risk factors, this polymorphism may be used as a predictor of CAD...
  51. ncbi request reprint Mitochondrial abnormalities in patients with LHON-like optic neuropathies
    Khaled K Abu-Amero
    Mitochondrial Research Laboratory, Department of Genetics, Riyadh, Kingdom of Saudi Arabia
    Invest Ophthalmol Vis Sci 47:4211-20. 2006
    ..To investigate certain biochemical and molecular characteristics of mitochondria in patients with Leber hereditary optic neuropathy (LHON)-like optic neuropathies...
  52. pmc The Glu27 genotypes of the beta2-adrenergic receptor are predictors for severe coronary artery disease
    Khaled K Abu-Amero
    Genetics Department, King Faisal Specialist Hospital and Research Centre MBC 03, P O Box 3354, Riyadh 11211, Saudi Arabia
    BMC Med Genet 7:31. 2006
    ..The role of the Beta2-adrenoceptor (beta2-AR) Gln27Glu polymorphism in the manifestation of cardiovascular diseases is still unclear...
  53. ncbi request reprint Association of the platelet glycoprotein receptor IIIa (PlA1/PlA1) genotype with coronary artery disease in Arabs
    Khaled K Abu-Amero
    Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Blood Coagul Fibrinolysis 15:77-9. 2004
    ..The PlA1 allele frequency was 0.84 and 0.87, and for the PlA2 was 0.16 and 0.13 for the BD and CAD groups, respectively. In conclusion, our results suggest that the PlA1/PlA1 genotype (P = 0.029) is associated with CAD in Saudi Arabs...
  54. doi request reprint Prominent corneal nerves: a novel sign of lipoid proteinosis
    Yasser H Al-Faky
    Ophthalmology Department, College of Medicine, King Saud University, PO Box 245, Riyadh 11411, Saudi Arabia
    Br J Ophthalmol 96:935-40. 2012
    ..Detailed longitudinal evaluation of corneal and other ophthalmological features of patients with lipoid proteinosis (LP)...
  55. ncbi request reprint Analysis of catalase SNP rs1001179 in Saudi patients with primary open angle glaucoma
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia and
    Ophthalmic Genet 34:223-8. 2013
    ..To investigate whether the g.4760C > T mutation in the catalase gene (CAT) is a risk factor for primary open angle glaucoma (POAG) in the Saudi population...
  56. pmc Molecular and neurological characterizations of three Saudi families with lipoid proteinosis
    Mustafa A Salih
    Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    BMC Med Genet 12:31. 2011
    ..We report the neurologic and neuroradiologic characteristics and ECM1 gene mutations of seven individuals with lipoid proteinosis (LP) from three unrelated consanguineous families...
  57. pmc CADASIL in Arabs: clinical and genetic findings
    Saeed Bohlega
    Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    BMC Med Genet 8:67. 2007
    ..CADASIL cases have been identified in most countries of Western and Central Europe, the Americas, Japan, Australia, the Caribbean, South America, Tanzania, Turkey, South Africa and Southeast Asia, but not in Arabs...
  58. doi request reprint Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia
    Mustafa A Salih
    Department of Pediatrics, College of Medicine, King Saud University, Division of Neurophysiology, Department of Neuroscience, Armed Forces Hospital, Riyadh, Saudi Arabia
    J Neuroophthalmol 31:42-7. 2011
    ....
  59. doi request reprint Involvement of mitochondrial DNA sequence variations and respiratory activity in late complications following radiotherapy
    Ghazi A Alsbeih
    Biomedical Physics Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Clin Cancer Res 15:7352-60. 2009
    ....
  60. doi request reprint Sporadic bilateral optic neuropathy in children: the role of mitochondrial abnormalities
    Thomas M Bosley
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Invest Ophthalmol Vis Sci 49:5250-6. 2008
    ..To evaluate a group of patients with isolated, early-onset, bilateral optic neuropathy for genetic and biochemical evidence of mitochondrial diseases...
  61. ncbi request reprint Mitochondrial T9957C mutation in association with NAION and seizures but not MELAS
    Khaled K Abu-Amero
    Department of Genetics, King Faisal Specialist Hospital and Research Centre MBC 03, P O Box 3354, Riyadh 11211, Saudi Arabia
    Ophthalmic Genet 26:31-6. 2005
    ..This nt-9957 mutation has been previously reported in association with mitochondrial encephalopathy, lactic acidosis, and stroke-like events (MELAS)...
  62. ncbi request reprint Prevalence and role of methylenetetrahydrofolate reductase 677 C-->T and 1298 A-->C polymorphisms in coronary artery disease in Arabs
    Khaled K Abu-Amero
    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    Arch Pathol Lab Med 127:1349-52. 2003
    ..No previous studies concerning the prevalence of these 2 MTHFR variants or their possible association with CAD in Arabs are currently available in the literature...
  63. ncbi request reprint Mitochondrial sequence changes in keratoconus patients
    Khaled K Abu-Amero
    Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Invest Ophthalmol Vis Sci 55:1706-10. 2014
    ..We investigated whether a group of patients with keratoconus (KTCN) harbor mutations in the mitochondrial genome...
  64. ncbi request reprint Mitochondrial changes in leukocytes of patients with optic neuritis
    Thomas M Bosley
    Neuroscience Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Mol Vis 13:1516-28. 2007
    ..We evaluated patients with optic neuritis for evidence of systemic mitochondrial abnormalities...
  65. ncbi request reprint A novel splice site mutation in the WAS gene causes Wiskott-Aldrich syndrome in two siblings of a Saudi family
    Khaled K Abu-Amero
    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    Blood Coagul Fibrinolysis 15:599-603. 2004
    ..Since no other mutation was detected in the WAS gene and the patients have classical symptoms of WAS, we concluded that it is highly likely that this novel mutation is responsible for the phenotype observed in these patients...
  66. ncbi request reprint Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis
    Zuhair N Al-Hassnan
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia
    J Neurol Sci 264:187-94. 2008
    ..Moreover, it illustrates considerable clinical/biochemical correlation, and describes a novel mutation. We suggest including HHH syndrome in the differential diagnosis of patients found to have stroke-like lesions on brain MRI...
  67. doi request reprint Xq26.3 microdeletion in a male with Wildervanck Syndrome
    Khaled K Abu-Amero
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Ophthalmic Genet 35:18-24. 2014
    ..It is much more common in females than males and could be due to an X-linked mutation that is lethal to hemizygous males. We present the genetic evaluation of a male with WS and his family...
  68. doi request reprint Genome-wide expression profiling of patients with primary open angle glaucoma
    Dilek Colak
    Department of Biostatistics Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    Invest Ophthalmol Vis Sci 53:5899-904. 2012
    ..To identify differentially expressed genes and to elucidate gene interaction networks and molecular pathways possibly contributing to the development of POAG...
  69. doi request reprint The neurology of carbonic anhydrase type II deficiency syndrome
    Thomas M Bosley
    Department of Ophthalmology and Paediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Brain 134:3502-15. 2011
    ....
  70. pmc Analysis of nuclear and mitochondrial genes in patients with pseudoexfoliation glaucoma
    Khaled K Abu-Amero
    Mitochondrial Research Laboratory, Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Mol Vis 14:29-36. 2008
    ..Pseudoexfoliation glaucoma (PEG) is the most prevalent secondary open angle glaucoma occurring worldwide. The search for a genetic cause in PEG has been largely unsuccessful despite evidence of hereditary transmission...
  71. ncbi request reprint Mitochondrial DNA nucleotide changes in non-arteritic ischemic optic neuropathy
    Thomas M Bosley
    Neuro Ophthalmology Division, King Faisal Specialist Hospital, Riyadh, Saudi Arabia
    Neurology 63:1305-8. 2004
    ..001). Twelve of these (11 novel) were potentially pathologic, nine of which altered moderately or highly conserved amino acids in the functional domain of the affected protein. Mitochondrial malfunction may be a risk factor for NAION...
  72. doi request reprint Isolated foveal hypoplasia: report of a new case and detailed genetic investigation
    Ahmed A Al-Saleh
    AlHokama Eye Specialist Center, Riyadh, Saudi Arabia
    Int Ophthalmol 31:117-20. 2011
    ..We report a case of isolated foveal hypoplasia where the underlying genetic cause could not be established. We could not rule out other genetic or epigenetic factors contributing to the pathogenesis of isolated foveal hypoplasia...
  73. ncbi request reprint Homozygous protein C deficiency with purpura fulminans: report of a new case and a description of a novel mutation
    Khaled K Abu-Amero
    Department of Genetics, King Faisal Specialist Hospital and Research Center MBC 03, PO Box 3354, Riyadh 11211, Kingdom of Saudi Arabia
    Blood Coagul Fibrinolysis 14:303-6. 2003
    ..It results in a frame-shift mutation, which introduces a stop-codon, thereby generating a prematurely truncated protein. These molecular findings agree with the presence of quantitative protein C deficiency in the index case...
  74. doi request reprint Assessing mitochondrial DNA nucleotide changes in spontaneous optic neuropathies
    Thomas M Bosley
    Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
    Ophthalmic Genet 31:163-72. 2010
    ....
  75. ncbi request reprint Detection of mitochondrial respiratory dysfunction in circulating lymphocytes using resazurin
    Khaled K Abu-Amero
    Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Arch Pathol Lab Med 129:1295-8. 2005
    ....
  76. ncbi request reprint Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in Arabs
    Saeed A Bohlega
    Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, PO Box 3354, MBC 76, Riyadh 11211, Kingdom of Saudi Arabia
    Saudi Med J 29:952-6. 2008
    ....
  77. ncbi request reprint Novel mitochondrial DNA transversion mutation in transfer ribonucleic acid for leucine 2 (CUN) in a patient with the clinical features of MELAS
    Khaled K Abu-Amero
    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    J Child Neurol 21:971-2. 2006
    ..We believe that this mutation is the cause of his disease condition...
  78. doi request reprint Exceptions to the Valsalva doctrine
    Henry S Schutta
    Ophthalmology Department, King Saud University, PO Box 245, Riyadh 11411, Saudi Arabia
    Neurology 74:329-35. 2010
    ..However, we still do not understand why decussation occurs...
  79. ncbi request reprint Outcomes of 3 hours part-time occlusion treatment combined with near activities among children with unilateral amblyopia
    Abdullah G Alotaibi
    Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia
    Saudi Med J 33:395-8. 2012
    ..To evaluate the outcome of part-time occlusion therapy with or without near activities in monocular amblyopic patients...
  80. doi request reprint Molecular monitoring of response to imatinib (Glivec) in chronic myeloid leukemia patients: experience at a tertiary care hospital in Saudi Arabia
    Salem H Khalil
    Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Genet Test Mol Biomarkers 14:67-74. 2010
    ....
  81. ncbi request reprint One month outcome of ocular related emergencies in a tertiary hospital in Central Saudi Arabia
    Abdullah G Alotaibi
    Department of Ophthalmology, King Abdulaziz University Hospital, College of Medicine, King Saud University, King Abdulaziz Road, PO Box 245, Riyadh 11411, Kingdom of Saudi Arabia
    Saudi Med J 32:1256-60. 2011
    ..To investigate the number and characteristics of patients attending the Accident/Emergency (A/E) Department of a tertiary care hospital in Riyadh, and to determine their route of referral, and pattern of ocular emergency cases...
  82. ncbi request reprint A new era for preventive genetic programs in the Arabian Peninsula
    Ali N Al-Odaib
    Department of Genetics Research Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia
    Saudi Med J 24:1168-75. 2003
    ..These preventive measures must take into account the social and cultural aspects...
  83. ncbi request reprint High frequency of somatic mitochondrial DNA mutations in human thyroid carcinomas and complex I respiratory defect in thyroid cancer cell lines
    Khaled K Abu-Amero
    Department of Genetics MBC 03, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia
    Oncogene 24:1455-60. 2005
    ..These data suggest that mtDNA mutations may play an important role in the thyroid tumorigenesis. Given that mtDNA mutation is present in the benign multinodular hyperplasia, it might be involved in the early stage of tumor development...