Faiqa Imtiaz

Summary

Affiliation: King Faisal Specialist Hospital and Research Centre
Country: Saudi Arabia

Publications

  1. doi request reprint Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin
    Faiqa Imtiaz
    Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Mol Genet Metab 104:688-90. 2011
  2. pmc USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis
    Faiqa Imtiaz
    Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Mol Vis 18:1885-94. 2012
  3. pmc A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population
    Faiqa Imtiaz
    Department of Genetics, King Faisal Specialist Hospital and Research Centre, PO Box 3354, Riyadh 11211, Saudi Arabia
    BMC Med Genet 12:91. 2011
  4. pmc Novel mutations underlying argininosuccinic aciduria in Saudi Arabia
    Faiqa Imtiaz
    Saudi Diagnostics Laboratory, King Faisal Specialist Hospital and Research Centre, PO Box 3354, Riyadh 11211, Saudi Arabia
    BMC Res Notes 3:79. 2010
  5. doi request reprint Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease
    Namik Kaya
    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia
    Genet Med 10:675-84. 2008
  6. doi request reprint Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family
    Khushnooda Ramzan
    Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Gene 521:195-9. 2013
  7. doi request reprint Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications
    Zuhair N Al-Hassnan
    Department of Medical Genetics, MBC 75, King Faisal Specialist Hospital and Research Centre, PO Box 3345, Riyadh, 11211, Saudi Arabia
    J Inherit Metab Dis 33:263-7. 2010
  8. doi request reprint Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity
    Hanif G Khalak
    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    Genet Med 14:515-9. 2012
  9. doi request reprint Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia
    Namik Kaya
    Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia
    Eur J Med Genet 51:558-65. 2008
  10. doi request reprint Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency
    Muhammad Faiyaz-Ul-Haque
    Department of Pathology, Molecular Genetics Laboratory, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia
    Eur J Pediatr 168:1467-71. 2009

Collaborators

Detail Information

Publications15

  1. doi request reprint Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin
    Faiqa Imtiaz
    Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Mol Genet Metab 104:688-90. 2011
    ..All of the mutations were homozygous and we did not find the presence of a "founder mutation"...
  2. pmc USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis
    Faiqa Imtiaz
    Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Mol Vis 18:1885-94. 2012
    ..To date, mutations in seven different genes have been reported to cause USH type 1 (USH1), the most severe form. Patients diagnosed with USH1 are known to be ideal candidates to benefit from cochlear implantation...
  3. pmc A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population
    Faiqa Imtiaz
    Department of Genetics, King Faisal Specialist Hospital and Research Centre, PO Box 3354, Riyadh 11211, Saudi Arabia
    BMC Med Genet 12:91. 2011
    ..This was performed by screening DFNB1 and to initiate prioritized linkage analysis or homozygosity mapping for a pilot number of families in which DFNB1 has been excluded...
  4. pmc Novel mutations underlying argininosuccinic aciduria in Saudi Arabia
    Faiqa Imtiaz
    Saudi Diagnostics Laboratory, King Faisal Specialist Hospital and Research Centre, PO Box 3354, Riyadh 11211, Saudi Arabia
    BMC Res Notes 3:79. 2010
    ..It is the most common urea cycle disorder identified in the Saudi population, which therefore prioritizes the need to delineate the underlying molecular defects leading to disease...
  5. doi request reprint Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease
    Namik Kaya
    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia
    Genet Med 10:675-84. 2008
    ..The aims of this study were to identify the mutations associated with Canavan disease in Saudi Arabia and to identify differentially expressed genes likely to contribute to the development of this disease...
  6. doi request reprint Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family
    Khushnooda Ramzan
    Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Gene 521:195-9. 2013
    ..The presence of the GIPC3 mutations in only one of 100 Saudi families with congenital NSHL suggests that it appears to be a rare cause of familial or sporadic deafness in this population...
  7. doi request reprint Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications
    Zuhair N Al-Hassnan
    Department of Medical Genetics, MBC 75, King Faisal Specialist Hospital and Research Centre, PO Box 3345, Riyadh, 11211, Saudi Arabia
    J Inherit Metab Dis 33:263-7. 2010
    ..The identification of a founder mutation for MCADD has important implications for the preventive screening programs not only in Saudi Arabia but potentially also in other countries in the region. ..
  8. doi request reprint Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity
    Hanif G Khalak
    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    Genet Med 14:515-9. 2012
    ..However, little is known about the extent to which corresponding nullizygosity (two-copy deletion) is similarly tolerated...
  9. doi request reprint Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia
    Namik Kaya
    Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia
    Eur J Med Genet 51:558-65. 2008
    ..The deletion so far is the largest gross change reported in the literature for the PCCA gene...
  10. doi request reprint Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency
    Muhammad Faiyaz-Ul-Haque
    Department of Pathology, Molecular Genetics Laboratory, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia
    Eur J Pediatr 168:1467-71. 2009
    ..CONCLUSION: This study provides a strong rationale for genetic testing of FBP deficient patients of Arab ethnicity for recurrent or novel mutations in the FBP1 gene...
  11. doi request reprint Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation
    Ola Khalifa
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, MBC 75, PO Box 3354, Riyadh 11211, Saudi Arabia
    Eur J Pediatr 170:121-6. 2011
    ..In conclusion, distinction between this type of skeletal dysplasia and Morquio disease (MPS IV) is important for paediatricians and clinical geneticist in providing standard patient care and genetic counselling...
  12. doi request reprint Reliable prenatal diagnosis of Canavan disease by measuring N-acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometry
    Osama Y Al-Dirbashi
    National Laboratory for Newborn Screening, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia
    Prenat Diagn 29:477-80. 2009
    ..Typically based on GC-MS, existing methods are time-consuming and laborious. We developed a novel LC-MS/MS method for determination of NAA in amniotic fluid with minimal sample preparation...
  13. ncbi request reprint Genetic study of Saudi diabetes (GSSD): significant association of the KCNJ11 E23K polymorphism with type 2 diabetes
    Osama Alsmadi
    Arabian Diagnostic Laboratory ADL, Research Centre, King Faisal Specialist Hospital and Research Centre, and Diabetes Center, King Abdulaziz University Hospital, Riyadh, Saudi Arabia
    Diabetes Metab Res Rev 24:137-40. 2008
    ..The E23K variant of KCNJ11 has been associated with type 2 diabetes (T2D) in several but not all populations studied. Thus far, despite a high incidence of T2D, the role of this variant in Arabs has not been established...
  14. pmc Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping
    Faiqa Imtiaz
    Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    JIMD Rep 2:107-11. 2012
    ..Sequencing ALG9 did not reveal any mutations while analysis of DPAGT1 identified a novel homozygous mutation c.902G>A (p.R301H) in two affected infants. The disorder was fatal in all affected cases and mostly in early infancy...
  15. pmc Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population
    Moeenaldeen Al-Sayed
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    BMC Med Genet 7:86. 2006
    ..1.3.4). HL is encoded by HMGCL gene and many mutations have been reported. 3HMG is commonly observed in Saudi Arabia...