Publications by authors named "Majid Alfadhel"

98Publications

Further delineation of HIDEA syndrome.

Am J Med Genet A 2020 Sep 23. Epub 2020 Sep 23.

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.61885DOI Listing
September 2020

Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency.

Mol Genet Metab Rep 2020 Dec 2;25:100644. Epub 2020 Sep 2.

King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100644DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479436PMC
December 2020

EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.

Clin Genet 2020 Sep 1. Epub 2020 Sep 1.

Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1111/cge.13842DOI Listing
September 2020

Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay.

Ann Clin Transl Neurol 2020 06 19;7(6):956-964. Epub 2020 May 19.

Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.1002/acn3.51059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318102PMC
June 2020

Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report.

BMC Pulm Med 2020 May 15;20(1):141. Epub 2020 May 15.

Medical Genetics Division, Department of Pediatrics, King Abdullah specialized Children's Hospital, King Abdulaziz Medical City, P. O Box 22490, Riyadh, 11426, Saudi Arabia.

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http://dx.doi.org/10.1186/s12890-020-1175-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229615PMC
May 2020

Biallelic variants in four genes underlying recessive osteogenesis imperfecta.

Eur J Med Genet 2020 Aug 13;63(8):103954. Epub 2020 May 13.

Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs, P.O. Box 3660, Riyadh, 11481, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103954DOI Listing
August 2020

MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database.

Ann Hum Genet 2020 09 13;84(5):370-379. Epub 2020 May 13.

Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1111/ahg.12385DOI Listing
September 2020

A Missense Mutation in the Gene Is Associated With Developmental Delay and Axial Hypotonia.

Front Pediatr 2020 27;8:71. Epub 2020 Feb 27.

Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.3389/fped.2020.00071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056728PMC
February 2020

Genetic Disorders Associated with Metal Metabolism.

Cells 2019 12 9;8(12). Epub 2019 Dec 9.

Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), P.O Box 3660, Riyadh 11481, Saudi Arabia.

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http://dx.doi.org/10.3390/cells8121598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6952812PMC
December 2019

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.

BMC Med Genet 2019 10 29;20(1):166. Epub 2019 Oct 29.

McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China.

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http://dx.doi.org/10.1186/s12881-019-0895-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819411PMC
October 2019

Carnitine Inborn Errors of Metabolism.

Molecules 2019 Sep 6;24(18). Epub 2019 Sep 6.

Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah 27272, UAE.

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http://dx.doi.org/10.3390/molecules24183251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6766900PMC
September 2019

Delta Like-1 Gene Mutation: A Novel Cause of Congenital Vertebral Malformation.

Front Genet 2019 5;10:534. Epub 2019 Jun 5.

King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.3389/fgene.2019.00534DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6593294PMC
June 2019

Biallelic Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review.

J Cent Nerv Syst Dis 2019 15;11:1179573519849938. Epub 2019 May 15.

Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1177/1179573519849938DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537489PMC
May 2019

Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial.

BMC Pediatr 2019 06 13;19(1):195. Epub 2019 Jun 13.

Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), PO Box 22490 11426, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1186/s12887-019-1571-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6563377PMC
June 2019

Multiple Mitochondrial Dysfunctions Syndrome 4 Due to Gene Defects: A Review.

Authors:
Majid Alfadhel

Child Neurol Open 2019 7;6:2329048X19847377. Epub 2019 May 7.

Division of Genetics, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1177/2329048X19847377DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506909PMC
May 2019

A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency.

Front Neurol 2019 24;10:411. Epub 2019 Apr 24.

Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.3389/fneur.2019.00411DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6491806PMC
April 2019

The landscape of early infantile epileptic encephalopathy in a consanguineous population.

Seizure 2019 Jul 27;69:154-172. Epub 2019 Apr 27.

King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10591311183064
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http://dx.doi.org/10.1016/j.seizure.2019.04.018DOI Listing
July 2019

Report of a Case that Expands the Phenotype of Infantile Krabbe Disease.

Am J Case Rep 2019 May 4;20:643-646. Epub 2019 May 4.

King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Genetic Division, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (NGHA), Riyadh, Saudi Arabia.

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http://dx.doi.org/10.12659/AJCR.914275DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6512756PMC
May 2019

6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.

Pediatr Neurol 2019 07 18;96:40-47. Epub 2019 Feb 18.

Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.02.008DOI Listing
July 2019

Glycine Transporter 1 Encephalopathy From Biochemical Pathway to Clinical Disease: Review.

Child Neurol Open 2019 19;6:2329048X19831486. Epub 2019 Feb 19.

King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1177/2329048X19831486DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383083PMC
February 2019

MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature.

J Pediatr Endocrinol Metab 2019 Apr;32(4):409-413

King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1515/jpem-2018-0505DOI Listing
April 2019

Severe Crohn's Disease Manifestations in a Child with Cystathionine β-Synthase Deficiency.

ACG Case Rep J 2018 5;5:e93. Epub 2018 Dec 5.

King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.14309/crj.2018.93DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6358571PMC
December 2018

Novel Homozygous Mutation in the WWOX Gene Causes Seizures and Global Developmental Delay: Report and Review.

Transl Neurosci 2018 31;9:203-208. Epub 2018 Dec 31.

King Abdullah International Medical Research Centre (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1515/tnsci-2018-0029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368664PMC
December 2018

The SORCS3 gene is mutated in brothers with infantile spasms and intellectual disability.

Discov Med 2018 10;26(143):147-153

Stem Cells Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh 11426, Saudi Arabia.

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October 2018

Prevention genetics program is an efficient model for precision medicine.

Authors:
Majid Alfadhel

Int J Health Sci (Qassim) 2018 Nov-Dec;12(6):1-2

King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6257878PMC
December 2018

Adenosine Kinase Deficiency: Report and Review.

Neuropediatrics 2019 02 26;50(1):46-50. Epub 2018 Nov 26.

Division of Genetics, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1676053
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http://dx.doi.org/10.1055/s-0038-1676053DOI Listing
February 2019

Clinical Genetics of Polydactyly: An Updated Review.

Front Genet 2018 6;9:447. Epub 2018 Nov 6.

Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.3389/fgene.2018.00447DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232527PMC
November 2018

Aortic calcification in Gaucher disease: a case report.

Appl Clin Genet 2018 17;11:107-110. Epub 2018 Oct 17.

Medical Genomic Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia,

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https://www.dovepress.com/aortic-calcification-in-gaucher-di
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http://dx.doi.org/10.2147/TACG.S180995DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199969PMC
October 2018

Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease.

Genet Test Mol Biomarkers 2018 Sep 5;22(9):561-567. Epub 2018 Sep 5.

4 Department of Pediatrics, King Abdullah Specialist Children's Hospital , King Abdullah International Medical Research Centre, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia .

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https://www.liebertpub.com/doi/10.1089/gtmb.2018.0058
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http://dx.doi.org/10.1089/gtmb.2018.0058DOI Listing
September 2018

Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review.

Sudan J Paediatr 2018 ;18(1):10-23

King Abdullah International Medical Research Centre and King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

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https://www.ejmanager.com/fulltextpdf.php?mno=297820
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http://dx.doi.org/10.24911/SJP.2018.1.3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6113785PMC
January 2018

Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation.

J Child Neurol 2018 11 20;33(13):820-824. Epub 2018 Aug 20.

1 King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.

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http://journals.sagepub.com/doi/10.1177/0883073818790851
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http://dx.doi.org/10.1177/0883073818790851DOI Listing
November 2018

Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients.

J Child Neurol 2018 10 17;33(11):713-717. Epub 2018 Jul 17.

1 King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1177/0883073818786157DOI Listing
October 2018

Risk of Neuropsychiatric Adverse Effects of Lipid-Lowering Drugs: A Mendelian Randomization Study.

Int J Neuropsychopharmacol 2018 12;21(12):1067-1075

British Heart Foundation Glasgow Cardiovascular Research Centre, Faculty of Medicine, University of Glasgow, Glasgow, United Kingdom.

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https://academic.oup.com/ijnp/advance-article/doi/10.1093/ij
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http://dx.doi.org/10.1093/ijnp/pyy060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276028PMC
December 2018

Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.

BMC Ophthalmol 2018 Jun 22;18(1):147. Epub 2018 Jun 22.

Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Centre, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), PO Box 22490, Riyadh, 11426, Saudi Arabia.

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http://dx.doi.org/10.1186/s12886-018-0820-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6013877PMC
June 2018

KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome.

Am J Med Genet A 2018 07 7;176(7):1602-1609. Epub 2018 May 7.

Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.38723DOI Listing
July 2018

Neurometabolic disorders and congenital malformations of the central nervous system.

Neurosciences (Riyadh) 2018 Apr;23(2):97-103

Divisions of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City,Riyadh, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.17712/nsj.2018.2.20170481DOI Listing
April 2018

Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.

J Cent Nerv Syst Dis 2018 28;10:1179573518759682. Epub 2018 Feb 28.

King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1177/1179573518759682DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843099PMC
February 2018

Tetrasomy 18p: case report and review of literature.

Appl Clin Genet 2018 8;11:9-14. Epub 2018 Feb 8.

Developmental Medicine Department, King Abdullah International Medical Research Center, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.

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https://www.dovepress.com/tetrasomy-18p-case-report-and-revi
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http://dx.doi.org/10.2147/TACG.S153469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5811181PMC
February 2018

Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.

JIMD Rep 2018 15;42:105-111. Epub 2018 Feb 15.

King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.

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http://link.springer.com/10.1007/8904_2018_88
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http://dx.doi.org/10.1007/8904_2018_88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6226399PMC
February 2018

Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations.

Ther Clin Risk Manag 2018 2;14:225-229. Epub 2018 Feb 2.

King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.

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https://www.dovepress.com/methionine-adenosyltransferase-iii
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http://dx.doi.org/10.2147/TCRM.S151732DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798556PMC
February 2018

PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review.

Child Neurol Open 2018 11;5:2329048X17752237. Epub 2018 Jan 11.

Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1177/2329048X17752237DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5768269PMC
January 2018

Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis.

Pediatr Blood Cancer 2018 04 22;65(4). Epub 2017 Dec 22.

Department of Pediatrics, King Abdullah Specialist Children's Hospital and King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.

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http://doi.wiley.com/10.1002/pbc.26912
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http://dx.doi.org/10.1002/pbc.26912DOI Listing
April 2018

A new association between CDK5RAP2 microcephaly and congenital cataracts.

Ann Hum Genet 2018 05 22;82(3):165-170. Epub 2017 Dec 22.

Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1111/ahg.12232DOI Listing
May 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

Early Infantile Leigh-like Gene Defects Have a Poor Prognosis: Report and Review.

Authors:
Majid Alfadhel

J Cent Nerv Syst Dis 2017 27;9:1179573517737521. Epub 2017 Oct 27.

King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1177/1179573517737521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5661663PMC
October 2017

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

Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency.

JIMD Rep 2018 5;40:47-53. Epub 2017 Oct 5.

Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/8904_2017_58DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122013PMC
October 2017

SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review.

Neuropediatrics 2018 04 29;49(2):83-92. Epub 2017 Sep 29.

Division of Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1055/s-0037-1607191DOI Listing
April 2018

Psychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia Disease.

Child Neurol Open 2017 Jan-Dec;4:2329048X17730742. Epub 2017 Sep 14.

Division of Mental Health, Department of Medicine, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1177/2329048X17730742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5604839PMC
September 2017

ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.

Am J Med Genet A 2017 Oct 4;173(10):2772-2775. Epub 2017 Aug 4.

Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana.

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http://doi.wiley.com/10.1002/ajmg.a.38377
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http://dx.doi.org/10.1002/ajmg.a.38377DOI Listing
October 2017

Congenital disorders of glycosylation: The Saudi experience.

Am J Med Genet A 2017 Oct 25;173(10):2614-2621. Epub 2017 Jul 25.

Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.38358DOI Listing
October 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

Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula.

Hum Genome Var 2017 25;4:17018. Epub 2017 May 25.

Department of Pediatrics, King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1038/hgv.2017.18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444338PMC
May 2017

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

Pulmonary hypertension and vasculopathy in incontinentia pigmenti: a case report.

Ther Clin Risk Manag 2017 9;13:629-634. Epub 2017 May 9.

Division of Genetics, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz Uiversity for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (NGHA), Riyadh, Saudi Arabia.

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https://www.dovepress.com/pulmonary-hypertension-and-vasculo
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http://dx.doi.org/10.2147/TCRM.S134705DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5431708PMC
May 2017

Rare genetic variant in the CFB gene presenting as atypical hemolytic uremic syndrome and immune complex diffuse membranoproliferative glomerulonephritis, with crescents, successfully treated with eculizumab.

Pediatr Nephrol 2017 05 16;32(5):885-891. Epub 2017 Feb 16.

Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, MNG-HA, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s00467-016-3577-0DOI Listing
May 2017

Delineation of cystinuria in Saudi Arabia: A case series.

BMC Nephrol 2017 02 6;18(1):50. Epub 2017 Feb 6.

King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Genetic Division, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), PO Box 22490, Riyadh, 11426, Saudi Arabia.

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http://bmcnephrol.biomedcentral.com/articles/10.1186/s12882-
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http://dx.doi.org/10.1186/s12882-017-0469-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5292799PMC
February 2017

Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.

Neurosciences (Riyadh) 2017 01;22(1):4-13

Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726836PMC
http://dx.doi.org/10.17712/nsj.2017.1.20160542DOI Listing
January 2017

Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly.

Dev Med Child Neurol 2016 Dec 9;58(12):1317-1322. Epub 2016 Sep 9.

Genetics Division, Department of Pediatrics, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1111/dmcn.13250DOI Listing
December 2016

Diabetic ketoacidosis in vanishing white matter.

Clin Case Rep 2016 08 17;4(8):717-20. Epub 2016 Jun 17.

Department of Pathology and Laboratory Medicine King Abdulaziz Medical City Riyadh Saudi Arabia; Department of Pediatrics College of Medicine Qassim University Almulyda Saudi Arabia.

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http://dx.doi.org/10.1002/ccr3.597DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974412PMC
August 2016