Publications by authors named "Majed Dasouki"

65Publications

Targeted Metabolomic Profiling of Total Fatty Acids in Human Plasma by Liquid Chromatography-Tandem Mass Spectrometry.

Metabolites 2020 Oct 9;10(10). Epub 2020 Oct 9.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 3354, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/metabo10100400DOI Listing
October 2020

Serum-Based Proteomics Profiling in Adult Patients with Cystic Fibrosis.

Int J Mol Sci 2020 Oct 8;21(19). Epub 2020 Oct 8.

Department of Biochemistry and Molecular Medicine,College of Medicine, Al Faisal University, Riyadh 11461, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms21197415DOI Listing
October 2020

Comprehensive Genomic Analysis of Noonan Syndrome and Acute Myeloid Leukemia in Adults: A Review and Future Directions.

Acta Haematol 2020 Jun 15:1-11. Epub 2020 Jun 15.

Department of Adult Hematology and Stem Cell Transplant, Oncology Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000505715DOI Listing
June 2020

Selection, characterization, and electrochemical biosensing application of DNA aptamers for sepiapterin.

Talanta 2020 Aug 20;216:120951. Epub 2020 Mar 20.

Department of Chemistry, Alfaisal University, Al Zahrawi Street, Al Maather, AlTakhassusi Rd, Riyadh, 11533, Saudi Arabia; Department of Genetics, King Faisal Specialist Hospital and Research Center, Zahrawi Street, Al Maather, Riyadh, 11211, Saudi Arabia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.talanta.2020.120951DOI Listing
August 2020

Dried Blood Spot-Based Metabolomic Profiling in Adults with Cystic Fibrosis.

J Proteome Res 2020 06 6;19(6):2346-2357. Epub 2020 May 6.

Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Zahrawi Street, Al Maather, Riyadh 11211, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1021/acs.jproteome.0c00031DOI Listing
June 2020

Dexamethasone-Induced Perturbations in Tissue Metabolomics Revealed by Chemical Isotope Labeling LC-MS analysis.

Metabolites 2020 Jan 21;10(2). Epub 2020 Jan 21.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/metabo10020042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7074358PMC
January 2020

Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation.

J Allergy Clin Immunol 2020 Jul 17;146(1):192-202. Epub 2019 Dec 17.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2019.12.004DOI Listing
July 2020

New Insights into the Impact of Genome-Wide Copy Number Variations on Complex Congenital Heart Disease in Saudi Arabia.

OMICS 2020 01 19;24(1):16-28. Epub 2019 Dec 19.

Departments Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/omi.2019.0165DOI Listing
January 2020

Metabolomics Distinguishes DOCK8 Deficiency from Atopic Dermatitis: Towards a Biomarker Discovery.

Metabolites 2019 Nov 12;9(11). Epub 2019 Nov 12.

Department of Genetics, King Faisal Specialist Hospital and Research Center (KFSH-RC), Riyadh 11211, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/metabo9110274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6918408PMC
November 2019

Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma.

Oncotarget 2019 Oct 15;10(57):5919-5931. Epub 2019 Oct 15.

Department of Molecular Oncology, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.18632/oncotarget.27194DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6800268PMC
October 2019

Proteomic Analysis of Morphologically Changed Tissues after Prolonged Dexamethasone Treatment.

Int J Mol Sci 2019 Jun 26;20(13). Epub 2019 Jun 26.

Department of Genetics, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh 11461, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms20133122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6650964PMC
June 2019

Quantitative profiling of cytokines and chemokines in DOCK8-deficient and atopic dermatitis patients.

Allergy 2019 02 15;74(2):370-379. Epub 2018 Oct 15.

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/all.13610
Publisher Site
http://dx.doi.org/10.1111/all.13610DOI Listing
February 2019

Multiplexed detection of DOCK8, PGM3 and STAT3 proteins for the diagnosis of Hyper-Immunoglobulin E syndrome using gold nanoparticles-based immunosensor array platform.

Biosens Bioelectron 2018 Oct 28;117:613-619. Epub 2018 Jun 28.

Department of Chemistry, Alfaisal University, Al Zahrawi Street, Al Maather, Al Takhassusi Road, Riyadh 11533, Saudi Arabia; King Faisal Specialist Hospital and Research Center, Zahrawi Street, Al Maather, Riyadh 11211, Saudi Arabia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bios.2018.06.058DOI Listing
October 2018

Carbon nanofiber-based multiplexed immunosensor for the detection of survival motor neuron 1, cystic fibrosis transmembrane conductance regulator and Duchenne Muscular Dystrophy proteins.

Biosens Bioelectron 2018 Oct 28;117:84-90. Epub 2018 May 28.

Department of Chemistry, Alfaisal University, Al Zahrawi Street, Al Maather, Al Takhassusi Road, Riyadh 11533, Saudi Arabia; Department of Genetics, King Faisal Specialist Hospital and Research Center, Zahrawi Street, Al Maather, Riyadh 11211, Saudi Arabia. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09565663183040
Publisher Site
http://dx.doi.org/10.1016/j.bios.2018.05.048DOI Listing
October 2018

A targeted metabolomics approach for clinical diagnosis of inborn errors of metabolism.

Anal Chim Acta 2018 Sep 18;1025:141-153. Epub 2018 Apr 18.

Department of Genetics, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia; Department of Chemistry, Memorial University of Newfoundland, St. John's, NL, A1B 3X7, Canada. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00032670183049
Publisher Site
http://dx.doi.org/10.1016/j.aca.2018.03.058DOI Listing
September 2018

Metabolomics Based Profiling of Dexamethasone Side Effects in Rats.

Front Pharmacol 2018 16;9:46. Epub 2018 Feb 16.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fphar.2018.00046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820529PMC
February 2018

Electrochemical immunosensors for the detection of survival motor neuron (SMN) protein using different carbon nanomaterials-modified electrodes.

Biosens Bioelectron 2018 Mar 10;101:282-289. Epub 2017 Oct 10.

Department of Chemistry, Alfaisal University, Al Zahrawi Street, Al Maather, Al Takhassusi Road, Riyadh 11533, Saudi Arabia; Department of Genetics, King Faisal Specialist Hospital and Research Center, Zahrawi Street, Al Maather, Riyadh 11211, Saudi Arabia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bios.2017.10.015DOI Listing
March 2018

Metabolomics toward personalized medicine.

Mass Spectrom Rev 2019 05 26;38(3):221-238. Epub 2017 Oct 26.

Department of Genetics, King Faisal Specialist Hospital and Research Center (KFSH-RC), Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/mas.21548
Publisher Site
http://dx.doi.org/10.1002/mas.21548DOI Listing
May 2019

HSP and deafness: Neurocristopathy caused by a novel mosaic mutation.

Neurol Genet 2017 Jun 15;3(3):e151. Epub 2017 May 15.

Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., D.B.-G., P.Y., Y.H., P.M., D.E., A.R.F., C.G.B.), and National Eye Institute (W.M.Z.), National Institutes of Health, Bethesda, MD; Children's National Medical Center (D.B.-G.), Washington, DC; Department of Neurology (A.H.), The Johns Hopkins University School of Medicine, Baltimore, MD; Children's Mercy Hospital (A.M.A., A.C.M.), Kansas City, MO; and Department of Neurology (M.D.), University of Kansas Medical Center, Kansas City, KS.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5432370PMC
June 2017

Hematopoietic stem cell transplantation corrects WIP deficiency.

J Allergy Clin Immunol 2017 03 11;139(3):1039-1040.e4. Epub 2016 Oct 11.

Pediatric Allergy and Clinical Immunology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2016.08.036DOI Listing
March 2017

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

N Engl J Med 2016 Aug;375(6):545-55

From the Division of Medical Genetics, University of Versailles, Paris-Saclay University, Versailles, and Assistance Publique-Hôpitaux de Paris, Paris - both in France (D.P.G.); the Department of Academic Haematology, Royal Free and University College Medical School, London (D.A.H.), Salford Royal NHS Foundation Trust, Salford (A.J.), and University of Sunderland, Sunderland (S.W.) - all in the United Kingdom; the Department of Nephrology, Royal Melbourne Hospital, Parkville, VIC (K. Nicholls), and the Metabolic Clinic, Women's and Children's Hospital, Adelaide, SA (D.B.) - both in Australia; the Clinical Research Division, Hôpital du Sacré-Coeur, Montreal (D.G.B.); Medical Genetics Service, Clinic Hospital of Porto Alegre, Porto Alegre (R.G.), and Hospital das Clínicas Faculdade de Medicina da Universidade de São Paulo-Ribeirão Preto, Ribeirão Preto (C.M.L.) - both in Brazil; the Departments of Human Genetics (W.R.W., S.P.S.) and Ophthalmology (S.P.S.), Emory University School of Medicine, Atlanta; the Dermatology Unit, University of Parma, Parma, Italy (C.F.); the Faculty of Medicine, Department and Laboratory of Pediatric Metabolic Disorders, Gazi University, Ankara, Turkey (F.E.); the Department of Pediatrics, Hospital Alemán, Buenos Aires (H.A.); the Department of Medical Endocrinology, Rigshospital, Copenhagen University Hospital, Copenhagen (U.F.-R.); Infusion Associates, Grand Rapids, MI (K. Nedd); the Faculty of Medicine, Kasr El Ainy Hospital, Cairo (U.S.E.D.); New York Presbyterian Hospital, New York (M.B.); the Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, and Northwestern University Feinberg School of Medicine, Chicago (J. Charrow); the Department of Urology, University of Kansas Medical Center, Kansas City (M.D., A.T.); Children's Hospital of Pittsburgh, Pittsburgh (D.F.); Hospital Miguel Servet, Zaragoza (P.G.), and Fundacio Puigvert, Universidad Autónoma de Barcelona, Barcelona (R.T.) - both in Spain; O & O Alpa

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1510198DOI Listing
August 2016

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease.

Neuromuscul Disord 2015 Apr 19;25(4):321-32. Epub 2014 Dec 19.

Duke University Medical Center, Durham, North Carolina, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2014.12.004DOI Listing
April 2015

Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point.

Clin Case Rep 2014 Dec 15;2(6):326-30. Epub 2014 Sep 15.

Department of Pediatrics, Division of Pediatric Endocrinology, University of Kansas Medical Center Kansas City, Kansas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ccr3.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270719PMC
December 2014

THPO-MPL pathway and bone marrow failure.

Hematol Oncol Stem Cell Ther 2015 Mar 29;8(1):6-9. Epub 2014 Nov 29.

Adult Hematology/Bone Marrow Transplantation, Oncology Center, MBC-64, King Faisal Specialist Hospital and Research Center, P.O. Box 3354, Riyadh 11211, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.hemonc.2014.11.005DOI Listing
March 2015

Pompe disease: literature review and case series.

Neurol Clin 2014 Aug;32(3):751-76, ix

Department of Neurology, University of Kansas Medical Center, Mailstop 2012, 3901 Rainbow Boulevard, Kansas City, KS 66160, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ncl.2014.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4311397PMC
August 2014

Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome.

Eur J Med Genet 2014 Feb 22;57(2-3):76-80. Epub 2014 Jan 22.

CombiMatrix Diagnostics, Irvine, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2013.12.007DOI Listing
February 2014

Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis.

Clin Immunol 2014 Feb 31;150(2):220-4. Epub 2013 Dec 31.

Division of Immunology, Boston Children's Hospital, Boston, MA, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clim.2013.12.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3924424PMC
February 2014

Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.

Gene 2014 Feb 2;535(1):70-8. Epub 2013 Nov 2.

Departments of Psychiatry, Behavioral Sciences and Pediatrics, The University of Kansas, Medical Center, Kansas City, KS, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2013.10.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4423794PMC
February 2014

Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1.

Am J Med Genet A 2013 Apr 26;161A(4):803-8. Epub 2013 Feb 26.

Department of Pediatrics, University of Kansas Medical Center, Kansas City, KS 66160, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35879DOI Listing
April 2013

Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature.

Curr Genomics 2011 May;12(3):190-203

Departments of Pediatrics and Internal Medicine, Kansas University Medical Center, Kansas City, Kansas, USA.

View Article

Download full-text PDF

Source
http://www.eurekaselect.com/openurl/content.php?genre=articl
Publisher Site
http://dx.doi.org/10.2174/138920211795677930DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3137004PMC
May 2011

The 3q29 microdeletion syndrome: report of three new unrelated patients and in silico "RNA binding" analysis of the 3q29 region.

Am J Med Genet A 2011 Jul 27;155A(7):1654-60. Epub 2011 May 27.

Department of Pediatrics, University of Kansas Medical Center, Kansas City, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3312009PMC
July 2011

Novel human pathological mutations. Gene symbol: DMD. Disease: Muscular Dystrophy, Duchenne.

Hum Genet 2010 Jan;127(1):109

Department of Pediatrics, University of Kansas Medical Center, Kansas City, Kansas 66160, USA.

View Article

Download full-text PDF

Source
January 2010

Novel human pathological mutations. Gene symbol: DMD. Disease: Muscular Dystrophy, Duchenne.

Hum Genet 2010 Jan;127(1):109

Department of Pediatrics, University of Kansas Medical Center, Kansas City, Kansas 66160, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-009-0757-zDOI Listing
January 2010

Gene symbol: DMD. Disease: Muscular dystrophy, Duchenne.

Hum Genet 2008 Oct;124(3):321

Kansas Medical Center, Pediatrics, 3901 Rainbow Blvd, MS 4004, 66160 Kansas City, KS, USA.

View Article

Download full-text PDF

Source
October 2008

Gene symbol: ARX. Disease: Mental retardation.

Hum Genet 2008 Jun;123(5):549

University of Kansas, School of Medicine, Department of Pediatrics, 3901 Rainbow Blvd., Mail stop 4004, 66160, Kansas City, KS, USA.

View Article

Download full-text PDF

Source
June 2008

Gene symbol: MEN1. Disease: Multiple endocrine neoplasia 1.

Hum Genet 2008 Jun;123(5):548-9

University of Kansas, School of Medicine, Department of Pediatrics, 3901 Rainbow Blvd., Mail stop 4004, 66160, KansasCity, KS, USA.

View Article

Download full-text PDF

Source
June 2008

Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.

Am J Med Genet A 2007 Nov;143A(22):2635-41

Division of Genetics, Endocrinology & Metabolism, Department of Pediatrics, The University of Kansas Medical Center, Kansas City, Kansas 66160, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.31980
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.31980DOI Listing
November 2007

Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry: clinical and laboratory aspects.

Clin Biochem 2006 Apr 23;39(4):315-32. Epub 2006 Mar 23.

Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals and Clinics, 2401 Gillham Road, Kansas City, MO 64108, USA.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S000991200600049
Publisher Site
http://dx.doi.org/10.1016/j.clinbiochem.2005.12.009DOI Listing
April 2006

A 9-year-old male with a duplication of chromosome 3p25.3p26.2: clinical report and gene expression analysis.

Am J Med Genet A 2006 Mar;140(6):573-9

Children's Mercy Hospitals and Clinics, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri 64108, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2568077PMC
March 2006

Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities.

J Am Soc Nephrol 2005 Aug 1;16(8):2270-8. Epub 2005 Jun 1.

Department of Internal Medicine, Faculty of Medicine, Tokyo University, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1681/ASN.2004080667DOI Listing
August 2005

Coenzyme Q10 levels in Prader-Willi syndrome: comparison with obese and non-obese subjects.

Am J Med Genet A 2003 Jun;119A(2):168-71

Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City, Missouri 64108, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.10055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6704465PMC
June 2003

Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene.

Am J Med Genet 2002 Mar;108(3):219-22

Section of Pediatric Nephrology, Children's Mercy Hospital, and University of Missouri-Kansas City School of Medicine, Kansas City, Missouri 64108, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.10217DOI Listing
March 2002

A 9-month-old baby with subdural hematomas, retinal hemorrhages, and developmental delay.

Pediatr Emerg Care 2002 Feb;18(1):44-7

Section of Behavioral and Developmental Pediatrics, The Children's Mercy Hospital, Kansas City, Missouri 64108, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/00006565-200202000-00014DOI Listing
February 2002