Mohammed Al-Owain

Mohammed Al-Owain

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Mohammed Al-Owain

Mohammed Al-Owain

Publications by authors named "Mohammed Al-Owain"

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82Publications

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De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.

Genet Med 2019 01 11;21(1):185-188. Epub 2018 Jun 11.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1038/s41436-018-0014-8DOI Listing
January 2019

Inherited Metabolic Disorders in Adults: A view from Saudi Arabia.

Eur J Med Genet 2018 Oct 26:103562. Epub 2018 Oct 26.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ejmg.2018.10.014DOI Listing
October 2018

Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron Syndrome.

Horm Res Paediatr 2017 25;88(2):119-126. Epub 2017 Jul 25.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1159/000475991DOI Listing
May 2018

Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations.

Int J Pediatr Otorhinolaryngol 2018 May 14;108:17-21. Epub 2018 Feb 14.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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https://linkinghub.elsevier.com/retrieve/pii/S01655876183008
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http://dx.doi.org/10.1016/j.ijporl.2018.02.016DOI Listing
May 2018

Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia.

Am J Med Genet A 2018 03 13;176(3):687-691. Epub 2018 Jan 13.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.38599DOI Listing
March 2018

Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.

Eur J Paediatr Neurol 2018 Jan 16;22(1):46-55. Epub 2017 Oct 16.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.10.003DOI Listing
January 2018

Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients.

Pediatr Neurol 2018 01 5;78:35-40. Epub 2017 Oct 5.

Department of Medical Genetics, King Faisal Specialist Hospital, and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.09.002DOI Listing
January 2018

Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations.

J Pediatr Hematol Oncol 2017 11;39(8):e430-e436

*Department of Pediatrics, King Abdullah International Medical Research Centre, Genetics Division #King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City §Department of Pediatrics ∥Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre ¶Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia †Department of Pediatrics, Genetics & Metabolism, University of Florida, Gainesville, FL ‡Department of Clinical Biochemistry, Aarhus University Hospital, Aarhus, Denmark.

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http://Insights.ovid.com/crossref?an=00043426-201711000-0001
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http://dx.doi.org/10.1097/MPH.0000000000000857DOI Listing
November 2017

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Authors:
Dorota Monies Mohamed Abouelhoda Moeenaldeen AlSayed Zuhair Alhassnan Maha Alotaibi Husam Kayyali Mohammed Al-Owain Ayaz Shah Zuhair Rahbeeni Mohammad A Al-Muhaizea Hamad I Alzaidan Edward Cupler Saeed Bohlega Eissa Faqeih Maha Faden Banan Alyounes Dyala Jaroudi Ewa Goljan Hadeel Elbardisy Asma Akilan Renad Albar Hesham Aldhalaan Shamshad Gulab Aziza Chedrawi Bandar K Al Saud Wesam Kurdi Nawal Makhseed Tahani Alqasim Heba Y El Khashab Hamoud Al-Mousa Amal Alhashem Imaduddin Kanaan Talal Algoufi Khalid Alsaleem Talal A Basha Fathiya Al-Murshedi Sameena Khan Adila Al-Kindy Maha Alnemer Sami Al-Hajjar Suad Alyamani Hasan Aldhekri Ali Al-Mehaidib Rand Arnaout Omar Dabbagh Mohammad Shagrani Dieter Broering Maha Tulbah Amal Alqassmi Maisoon Almugbel Mohammed AlQuaiz Abdulaziz Alsaman Khalid Al-Thihli Raashda A Sulaiman Wajeeh Al-Dekhail Abeer Alsaegh Fahad A Bashiri Alya Qari Suzan Alhomadi Hisham Alkuraya Mohammed Alsebayel Muddathir H Hamad Laszlo Szonyi Faisal Abaalkhail Sulaiman M Al-Mayouf Hamad Almojalli Khalid S Alqadi Hussien Elsiesy Taghreed M Shuaib Mohammed Zain Seidahmed Ibraheem Abosoudah Hana Akleh Abdulaziz AlGhonaium Turki M Alkharfy Fuad Al Mutairi Wafa Eyaid Abdullah Alshanbary Farrukh R Sheikh Fahad I Alsohaibani Abdullah Alsonbul Saeed Al Tala Soher Balkhy Randa Bassiouni Ahmed S Alenizi Maged H Hussein Saeed Hassan Mohamed Khalil Brahim Tabarki Saad Alshahwan Amira Oshi Yasser Sabr Saad Alsaadoun Mustafa A Salih Sarar Mohamed Habiba Sultana Abdullah Tamim Moayad El-Haj Saif Alshahrani Dalal K Bubshait Majid Alfadhel Tariq Faquih Mohamed El-Kalioby Shazia Subhani Zeeshan Shah Nabil Moghrabi Brian F Meyer Fowzan S Alkuraya

Hum Genet 2017 08 9;136(8):921-939. Epub 2017 Jun 9.

Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s00439-017-1821-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502059PMC
August 2017

Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss.

BMC Endocr Disord 2017 Mar 16;17(1):17. Epub 2017 Mar 16.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, P.O.Box 3354, Riyadh, 11211, Saudi Arabia.

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http://dx.doi.org/10.1186/s12902-017-0164-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5356396PMC
March 2017

Depression in adult patients with biotin responsive basal ganglia disease.

Drug Discov Ther 2016;10(4):223-5. Epub 2016 Aug 18.

Department of Medical Genetics, King Faisal Specialist Hospital and Research center.

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http://dx.doi.org/10.5582/ddt.2016.01046DOI Listing
February 2017

Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal β-Oxidation of Very-long-chain Fatty Acids.

J Biol Chem 2017 Jan 29;292(2):691-705. Epub 2016 Nov 29.

the Medical Institute of Bioregulation, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan, and

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http://dx.doi.org/10.1074/jbc.M116.760090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241743PMC
January 2017

Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy.

Intractable Rare Dis Res 2016 Aug;5(3):227-30

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.5582/irdr.2016.01018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4995419PMC
August 2016

Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families.

Int J Dermatol 2016 Jun 7;55(6):673-9. Epub 2016 Apr 7.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1111/ijd.13279DOI Listing
June 2016

ADAT3-related intellectual disability: Further delineation of the phenotype.

Am J Med Genet A 2016 May 3;170A(5):1142-7. Epub 2016 Feb 3.

Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.37578DOI Listing
May 2016

Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds.

Ann Saudi Med 2014 Mar-Apr;34(2):107-14

Dr. Muhammad Faiyaz-Ul-Haque, Department of Pathology,, College of Medicine,, King Khaled University Hospital,, King Saud University, T: 966-11-4699377, F: +966-11-4672462,

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http://dx.doi.org/10.5144/0256-4947.2014.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6074860PMC
November 2015

ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.

Eur J Med Genet 2014 May-Jun;57(6):253-8. Epub 2014 Apr 21.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, P.O.Box 3354, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ejmg.2014.04.004DOI Listing
February 2015

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Cell Rep 2015 Jan 31;10(2):148-61. Epub 2014 Dec 31.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.12.015DOI Listing
January 2015

Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man.

Muscle Nerve 2014 Oct 30;50(4):610-3. Epub 2014 Aug 30.

Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA.

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http://dx.doi.org/10.1002/mus.24302DOI Listing
October 2014

Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.

Am J Med Genet A 2014 Jun 25;164A(6):1565-70. Epub 2014 Mar 25.

Section of Medical Genetic, Pediatric Department, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.36482DOI Listing
June 2014

COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.

Int J Pediatr Otorhinolaryngol 2014 Mar 18;78(3):427-32. Epub 2013 Dec 18.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ijporl.2013.12.008DOI Listing
March 2014

Autism spectrum disorders and inborn errors of metabolism: an update.

Pediatr Neurol 2013 Oct 3;49(4):232-6. Epub 2013 Aug 3.

University of Michigan, Ann Arbor, Michigan, and King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.05.013DOI Listing
October 2013

Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family.

Gene 2013 May 16;521(1):195-9. Epub 2013 Mar 16.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.gene.2013.03.042DOI Listing
May 2013

Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia.

Clin Dysmorphol 2013 Jan;22(1):39-41

Department of Pediatrics, Royal Hospital, Muscat, Oman.

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http://dx.doi.org/10.1097/MCD.0b013e32835c297eDOI Listing
January 2013

Mutation in MPDZ causes severe congenital hydrocephalus.

J Med Genet 2013 Jan;50(1):54-8

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1136/jmedgenet-2012-101294DOI Listing
January 2013

Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes.

Genet Med 2012 Dec 30;14(12):955-62. Epub 2012 Aug 30.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1038/gim.2012.86DOI Listing
December 2012

Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.

Gene 2012 Dec 23;511(2):447-50. Epub 2012 Sep 23.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.gene.2012.09.022DOI Listing
December 2012

Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directions.

Am J Med Genet A 2012 Oct 17;158A(10):2629-40. Epub 2012 Aug 17.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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http://doi.wiley.com/10.1002/ajmg.a.35551
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http://dx.doi.org/10.1002/ajmg.a.35551DOI Listing
October 2012

A case of de Barsy syndrome with a severe eye phenotype.

Am J Med Genet A 2012 Sep 6;158A(9):2364-6. Epub 2012 Aug 6.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, and Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://doi.wiley.com/10.1002/ajmg.a.35507
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http://dx.doi.org/10.1002/ajmg.a.35507DOI Listing
September 2012

Propionic acidemia associated with visual hallucinations.

J Child Neurol 2012 Jun 7;27(6):799-803. Epub 2011 Dec 7.

Department of Pediatrics, King Abdulaziz University, Jeddah, Saudi Arabia.

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http://dx.doi.org/10.1177/0883073811426929DOI Listing
June 2012

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus.

Nat Genet 2011 Oct 23;43(12):1186-8. Epub 2011 Oct 23.

Rheumatology Section, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1038/ng.975DOI Listing
October 2011

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.

Am J Med Genet A 2011 Jun 12;155A(6):1448-52. Epub 2011 May 12.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.34025DOI Listing
June 2011

Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.

Eur J Pediatr 2011 Jan 24;170(1):121-6. Epub 2010 Sep 24.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, MBC 75, PO Box 3354, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1007/s00431-010-1298-0DOI Listing
January 2011

Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.

J Inherit Metab Dis 2010 Dec 22;33 Suppl 3:S263-7. Epub 2010 Jun 22.

Department of Medical Genetics, MBC-75, King Faisal Specialist Hospital & Research Centre, PO BOX 3345, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1007/s10545-010-9143-1DOI Listing
December 2010

Munchausen syndrome by proxy mimicking as Gaucher disease.

Eur J Pediatr 2010 Aug 29;169(8):1029-32. Epub 2009 Dec 29.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1007/s00431-009-1127-5DOI Listing
August 2010

Vici syndrome associated with unilateral lung hypoplasia and myopathy.

Am J Med Genet A 2010 Jul;152A(7):1849-53

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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http://doi.wiley.com/10.1002/ajmg.a.33421
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http://dx.doi.org/10.1002/ajmg.a.33421DOI Listing
July 2010

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report.

Orphanet J Rare Dis 2010 Apr 16;5. Epub 2010 Apr 16.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1186/1750-1172-5-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2861021PMC
April 2010

A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.

Mol Vis 2010 Feb 10;16:207-12. Epub 2010 Feb 10.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2820108PMC
February 2010

Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.

Eur J Pediatr 2009 Dec 4;168(12):1467-71. Epub 2009 Mar 4.

Department of Pathology, Molecular Genetics Laboratory, King Faisal Specialist Hospital & Research Centre, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1007/s00431-009-0953-9DOI Listing
December 2009

Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature.

J Child Neurol 2009 Dec;24(12):1513-9

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre (KFSH&RC), Riyadh, Saudi Arabia.

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http://journals.sagepub.com/doi/10.1177/0883073809341269
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http://dx.doi.org/10.1177/0883073809341269DOI Listing
December 2009

Visual diagnosis: a child who has hyperpigmented spots and a forearm deformity.

Pediatr Rev 2009 May;30(5):182-6

King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1542/pir.30-5-182DOI Listing
May 2009

Muscle phosphofructokinase deficiency with neonatal seizures and nonprogressive course.

J Child Neurol 2007 Jan;22(1):106-8

Department of Medical Genetics, MBC-75, King Faisal Specialist Hospital & Research Centre, PO Box 3354, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1177/0883073807299968DOI Listing
January 2007

Progressive sclerodermatous skin changes in a child with phenylketonuria.

Pediatr Dermatol 2006 Mar-Apr;23(2):136-8

Department of Pediatrics, King Faisal Specialist Hospital, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1111/j.1525-1470.2006.00198.xDOI Listing
October 2006