Research Topics
Genomes and GenesSpecies | M Al-OwainSummaryAffiliation: King Faisal Specialist Hospital and Research Centre Country: Saudi Arabia Publications
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Detail Information
Publications
Autism spectrum disorder in a child with propionic acidemiaM 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...
Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directionsMohammed 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...- Smith-Lemli-Opitz syndrome among ArabsM 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... - A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian populationFaiqa 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... - Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypesM 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... - Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearanceM 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... - A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case reportMohammed 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... - Munchausen syndrome by proxy mimicking as Gaucher diseaseMohammed 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... 
Growth hormone deficiency associated with methylmalonic acidemiaM 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...- Novel mutation in GLRB in a large family with hereditary hyperekplexiaM 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... - Mode of inheritance in systemic lupus erythematosus in Saudi multiplex familiesA 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... - An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17M 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... - Clinical, biochemical and molecular characterization of peroxisomal diseases in ArabsR 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...