Publications by authors named "Mohammed Al Balwi"

52Publications

A novel gene in early childhood diabetes: EDEM2 silencing decreases SLC2A2 and PXD1 expression, leading to impaired insulin secretion.

Mol Genet Genomics 2020 Sep 16;295(5):1253-1262. Epub 2020 Jun 16.

Department of Clinical Genetics, Odense University Hospital, J.B. Windsløws Vej 4, 5000, Odense, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00438-020-01695-5DOI Listing
September 2020

Peeling of skin as presenting manifestation in congenital disorders of glycosylation.

J Dermatol 2020 Sep 11;47(9):e335-e336. Epub 2020 Jun 11.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/1346-8138.15459DOI Listing
September 2020

Late-onset multiple venous malformations confined to the upper limb: link to somatic mutations.

J Hand Surg Eur Vol 2020 May 7:1753193420922459. Epub 2020 May 7.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1753193420922459DOI Listing
May 2020

A novel interstitial deletion of chromosome 2q21.1-q23.3: Case report and literature review.

Mol Genet Genomic Med 2020 04 28;8(4):e1135. Epub 2020 Jan 28.

Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.1135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196451PMC
April 2020

Oxidative stress, caloric intake and outcomes of critically ill patients.

Clin Nutr ESPEN 2019 02 10;29:103-111. Epub 2018 Dec 10.

College of Medicine, King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center, Intensive Care Department, King Abdulaziz Medical City, Riyadh, Saudi Arabia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clnesp.2018.11.011DOI Listing
February 2019

Permissive underfeeding, cytokine profiles and outcomes in critically ill patients.

PLoS One 2019 7;14(1):e0209669. Epub 2019 Jan 7.

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

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0209669PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322779PMC
September 2019

Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer.

J Glob Oncol 2018 08;4:1-9

Omalkhair Abulkhair, Specialized Medical Center; Mohammed Al Balwi, Ola Makram, Lamia Alsubaie, Hussam Shehata, Ahmed Hashim, and Ahmed Saadeddin, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs; Mohammed Al Balwi, King Abdullah International Medical Research Center, Ministry of National Guard-Health Affairs; Mohammed Al Balwi, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs, Riyadh; Medhat Faris, King Fahad Specialist Hospital, Dammam; Ezzeldin Ibrahim, Oncology Center of Excellence, International Medical Center, Jeddah, Kingdom of Saudi Arabia; and Banu Arun, The University of Texas MD Anderson Cancer Center, Houston, TX.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1200/JGO.18.00066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6223490PMC
August 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.

View Article

Download full-text PDF

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

X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report.

J Med Case Rep 2017 Sep 22;11(1):267. Epub 2017 Sep 22.

King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13256-017-1420-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5609014PMC
September 2017

Ibrutinib therapy is effective in B-cell prolymphocytic leukemia exhibiting MYC aberrations.

Leuk Lymphoma 2018 03 11;59(3):739-742. Epub 2017 Jul 11.

d Department of Pathology and Laboratory Medicine , King Abdul-Aziz Medical City , Riyadh , KSA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/10428194.2017.1347653DOI Listing
March 2018

Tracing the epidemic history of hepatitis C virus genotypes in Saudi Arabia.

Infect Genet Evol 2017 08 27;52:82-88. Epub 2017 Apr 27.

College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh 11426, Saudi Arabia; Department of Hepatobiliary Science, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh 11426, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.meegid.2017.04.024DOI Listing
August 2017

Analysis of CCR5 gene polymorphisms in 321 healthy Saudis using Next Generation Sequencing.

Hum Immunol 2017 Apr 7;78(4):384-386. Epub 2017 Mar 7.

Pathology and Laboratory Medicine Department, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.humimm.2017.03.003DOI Listing
April 2017

Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.

Am J Med Genet A 2015 Jul 28;167(7):1621-6. Epub 2015 Mar 28.

Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37040DOI Listing
July 2015

Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.

J Pediatr 2014 Mar 8;164(3):553-9.e1-2. Epub 2013 Dec 8.

Newcastle Mitochondrial Highly Specialized Services Diagnostic Laboratory, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00223476130137
Publisher Site
http://dx.doi.org/10.1016/j.jpeds.2013.10.082DOI Listing
March 2014

Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3.

J Med Genet 2013 Nov 24;50(11):725-32. Epub 2013 Sep 24.

Department of Infection and Immunity, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2013-101724DOI Listing
November 2013

Mucolipidosis II: first report from Saudi Arabia.

Ann Saudi Med 2013 Jul-Aug;33(4):382-6

Dr. Majid Alfadhel . Pediatrics, King Abdulaziz Medical City, Sheikh Jabir Al Ahmed al Sabah Street, Al Rimayah, PO Box 22490, 1510 Riyadh 11426, Saudi Arabia .

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5144/0256-4947.2013.382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078501PMC
May 2014

Novel point mutations and mutational complexes in the enhancer II, core promoter and precore regions of hepatitis B virus genotype D1 associated with hepatocellular carcinoma in Saudi Arabia.

Int J Cancer 2013 Dec 9;133(12):2864-71. Epub 2013 Jul 9.

King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia; Department of Virology and Liver Unit, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ijc.28307DOI Listing
December 2013

The unclassified variant: c.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype.

Gene 2013 Sep 1;526(2):471-3. Epub 2013 Jun 1.

Department of Surgery, King Saud University, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2013.05.046DOI Listing
September 2013

Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.

J Inherit Metab Dis 2013 Nov 12;36(6):997-1004. Epub 2013 Jan 12.

Department of Pediatrics, Genetics division, King AbdulAziz Medical City, Riyadh, Saudi Arabia,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-012-9577-8DOI Listing
November 2013

A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency.

Am J Med Genet A 2012 Oct 17;158A(10):2610-5. Epub 2012 Aug 17.

Department of Surgery, King Saud University, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35584DOI Listing
October 2012

Efficacy and safety of treatment of hepatitis C virus infection in renal transplant recipients.

World J Gastroenterol 2012 Jan;18(1):55-63

Division of Hepatology, Department of Hepatobiliary Sciences and Liver Transplantation, King Abdulaziz Medical City and King Saud bin Abdulaziz University for Health Sciences, National Guard Health Affairs, Riyadh 11324, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3748/wjg.v18.i1.55DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3251806PMC
January 2012

Prevalence of mixed hepatitis C virus (HCV) genotypes among recently diagnosed dialysis patients with HCV infection.

Saudi J Kidney Dis Transpl 2011 Jul;22(4):712-6

Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
July 2011

A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families.

Am J Med Genet A 2011 Mar 22;155A(3):599-604. Epub 2011 Feb 22.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33717DOI Listing
March 2011

Novel human pathological mutations. Gene symbol: EDAR. Disease: Ectodermal dysplasia, hypohidrotic.

Hum Genet 2010 Jan;127(1):123

1Section of Molecular Pathology and Genetics, Department of Pathology, King Abdulaziz Medical City, PO.Box 22490, MC1122, 11426, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
January 2010

Novel human pathological mutations. Gene symbol: MAN2B1. Disease: Mannosidosis, alpha.

Hum Genet 2010 Jan;127(1):122

Section of Molecular Pathology and Genetics, Department of Pathology, King Abdulaziz Medical City, PO. Box 22490, MC1122, 11426, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
January 2010

Novel human pathological mutations. Gene symbol: NF1. Disease: Neurofibromatosis 1.

Hum Genet 2010 Jan;127(1):114

Molecular Biology, NGHA, P O Box 22490, (2216), 11426, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
January 2010

Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report.

Cases J 2009 Jul 30;2:8391. Epub 2009 Jul 30.

King Saud bin Abdulaziz University for Health Sciences, College of Medicine, Riyadh, 11426, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4076/1757-1626-2-8391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2740248PMC
July 2009

Novel human pathological mutations. Gene symbol: WNT7A. Disease: ulnar and fibula absence, with severe limb deficiency.

Hum Genet 2009 Apr;125(3):334

King Abdulaziz Medical City, Molecular Patholody & Genetics, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
April 2009

Gene symbol: LMX1B. Disease: Nail-Patella syndrome.

Hum Genet 2008 Feb;123(1):109-10

King Abduaziz Medical City, Molecular Pathology, PO. BOX 22490, MC1122, 11426 Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
February 2008

Congenital duplication of the palm syndrome.

Ann Plast Surg 2007 Sep;59(3):341-3

Department of Surgery, King Saud University, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.sap.0000251486.89375.03DOI Listing
September 2007