M Al-Owain

Summary

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

Publications

  1. pmc Autism spectrum disorder in a child with propionic acidemia
    M Al-Owain
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, 3354, Riyadh, 11211, Saudi Arabia
    JIMD Rep 7:63-6. 2013
  2. doi request reprint Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directions
    Mohammed Al-Owain
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Am J Med Genet A 158:2629-40. 2012
  3. doi request reprint Smith-Lemli-Opitz syndrome among Arabs
    M Al-Owain
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Clin Genet 82:165-72. 2012
  4. 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
  5. ncbi request reprint Growth hormone deficiency associated with methylmalonic acidemia
    M Al-Owain
    Department of Pediatrics, University of Colorado School of Medicine, Denver, CO, USA
    J Pediatr Endocrinol Metab 17:239-43. 2004
  6. doi request reprint Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes
    M Al-Owain
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Clin Genet 80:50-8. 2011
  7. doi request reprint Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance
    M Al-Owain
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Clin Genet 79:363-70. 2011
  8. pmc A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report
    Mohammed Al-Owain
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Orphanet J Rare Dis 5:7. 2010
  9. doi request reprint Munchausen syndrome by proxy mimicking as Gaucher disease
    Mohammed Al-Owain
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia
    Eur J Pediatr 169:1029-32. 2010
  10. doi request reprint A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11
    M Al-Owain
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Clin Genet 84:258-64. 2013

Collaborators

  • Gert Matthijs
  • N Shimozawa
  • Namik Kaya
  • Sarar Mohamed
  • R Shaheen
  • Faiqa Imtiaz
  • A Qari
  • Khalid Taibah
  • Abeer Al-Mostafa
  • M Hashem
  • Z N Al-Hassnan
  • Daniah Trabzuni
  • Z Rahbeeni
  • Shelley Kennedy
  • M al-Sayed
  • O Y Al-Dirbashi
  • W Kurdi
  • H Zaidan
  • Khushnooda Ramzan
  • F S Alkuraya
  • Saeed S Bamukhayyar
  • F Basheeri
  • Rabab Allam
  • T Al-Sheddi
  • M Z Seidahmed
  • Bashayer Al-Mubarak
  • Sameera Sogaty
  • E Faqih
  • M A M Salih
  • Brian F Meyer
  • Ghada Bin-Khamis
  • Abdulmoneem H Al-Shaikh
  • N Makhsheed
  • S al-Mayouf

Detail Information

Publications14

  1. pmc Autism spectrum disorder in a child with propionic acidemia
    M Al-Owain
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, 3354, Riyadh, 11211, Saudi Arabia
    JIMD Rep 7:63-6. 2013
    ..This facilitates providing the needed behavioral services not otherwise available for children with metabolic disorders...
  2. doi request reprint Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directions
    Mohammed Al-Owain
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Am J Med Genet A 158:2629-40. 2012
    ..Education about genetic diseases, establishment of a "national registry" and mutational database, and enhanced healthcare access are crucial for success of any preventative campaign...
  3. doi request reprint Smith-Lemli-Opitz syndrome among Arabs
    M Al-Owain
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Clin Genet 82:165-72. 2012
    ..The paper sheds light on this rare disease among Arabs and reviews all reported SLOS cases in the Arab population...
  4. 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...
  5. ncbi request reprint Growth hormone deficiency associated with methylmalonic acidemia
    M Al-Owain
    Department of Pediatrics, University of Colorado School of Medicine, Denver, CO, USA
    J Pediatr Endocrinol Metab 17:239-43. 2004
    ..The second patient was also found to be GH deficient. These findings suggest that GH deficiency may be an etiologic factor in the poor growth seen in patients with organic acidemia...
  6. doi request reprint Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes
    M Al-Owain
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Clin Genet 80:50-8. 2011
    ..The complexity of the desmoplakin and its variable presentations warrant introducing the term 'desmoplakinopathies' to describe all the phenotypes related to defects in the desmoplakin...
  7. doi request reprint Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance
    M Al-Owain
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Clin Genet 79:363-70. 2011
    ..The report confirms the previous findings that carrier females may be symptomatic...
  8. pmc A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report
    Mohammed Al-Owain
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Orphanet J Rare Dis 5:7. 2010
    ..482A>G (p.Y161C) and heterozygosity in the parents. This report highlights the importance to consider CDG in the differential diagnosis of unexplained cardiomyopathy...
  9. doi request reprint Munchausen syndrome by proxy mimicking as Gaucher disease
    Mohammed Al-Owain
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia
    Eur J Pediatr 169:1029-32. 2010
    ..This is, to our knowledge, the first report of MBP resembling in its presentation Gaucher disease. This case should alert the general and specialized pediatricians about MBP, as it may mimic metabolic diseases like Gaucher disease...
  10. doi request reprint A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11
    M Al-Owain
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Clin Genet 84:258-64. 2013
    ..0 assay did not show any gross chromosomal abnormality. Targeted sequencing of two candidate genes within the linkage interval (PAX6 and B3GALTL) as well as mtDNA genome sequencing did not reveal any putative mutations. ..
  11. doi request reprint Novel mutation in GLRB in a large family with hereditary hyperekplexia
    M Al-Owain
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    Clin Genet 81:479-84. 2012
    ..Moreover, the report of these familial cases supports the previous evidence in a single patient of an autosomal recessive inheritance of HH because of defects in GLRB...
  12. ncbi request reprint Mode of inheritance in systemic lupus erythematosus in Saudi multiplex families
    A Qari
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
    Genet Couns 20:215-23. 2009
    ..As many other autoimmune diseases, multifactorial is the most common form of inheritance. In the current study, the suggested mode of inheritance is autosomal recessive assuming Mendelian inheritance of single gene disorder...
  13. doi request reprint An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17
    M Al-Owain
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    Clin Genet 80:489-92. 2011
    ..This report adds to the growing list of autosomal recessive syndromic CI conditions and defines a linkage interval harboring a gene which probably plays a vital role in brain development...
  14. doi request reprint Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs
    R Shaheen
    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    Clin Genet 79:60-70. 2011
    ..We confirm the genetic heterogeneity of PD in our population, expand the pool of pathogenic alleles and draw some phenotype/genotype correlations...