Publications by authors named "Jumana Y Al-Aama"

40Publications

Myocardial infarction biomarker discovery with integrated gene expression, pathways and biological networks analysis.

Genomics 2020 Sep 10. Epub 2020 Sep 10.

Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders (PACER-HD), King Abdulaziz University, Jeddah, Saudi Arabia; Department of Genetic Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ygeno.2020.09.004DOI Listing
September 2020

A Novel Homozygous Frameshift Variant in Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.

Front Pediatr 2020 16;8:383. Epub 2020 Jul 16.

Center for Research in Molecular Medicine (CRiMM), Institute of Molecular Biology and Biotechnology (IMBB), The University of Lahore, Lahore, Pakistan.

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http://dx.doi.org/10.3389/fped.2020.00383DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7378890PMC
July 2020

Detection of Secondary Metabolites as Biomarkers for the Early Diagnosis and Prevention of Type 2 Diabetes.

Diabetes Metab Syndr Obes 2019 17;12:2675-2684. Epub 2019 Dec 17.

King Abdulaziz University, Princess Al Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders, Jeddah, KSA.

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http://dx.doi.org/10.2147/DMSO.S215528DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6930579PMC
December 2019

Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients.

Saudi J Biol Sci 2020 Jan 11;27(1):271-278. Epub 2019 Sep 11.

Pediatric Gastroenterology Unit, Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

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http://dx.doi.org/10.1016/j.sjbs.2019.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6933154PMC
January 2020

A Novel Homozygous Frameshift Mutation in Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family.

Front Pediatr 2019 25;7:245. Epub 2019 Jun 25.

Institute of Molecular Biology and Biotechnology, Center for Research in Molecular Medicine, The University of Lahore, Lahore, Pakistan.

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http://dx.doi.org/10.3389/fped.2019.00245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6604515PMC
June 2019

Depression and telomere length in colorectal cancer patients in Saudi Arabia.

Asian J Psychiatr 2019 Feb 1;40:130-131. Epub 2018 May 1.

King Abdulaziz University, Jeddah, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ajp.2018.04.039DOI Listing
February 2019

Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.

Mol Genet Genomic Med 2017 Sep 21;5(5):592-601. Epub 2017 Jun 21.

Princess Al Jawhara Albrahim Center of Excellence in Research of Hereditary DisordersKing Abdulaziz UniversityJeddahSaudi Arabia.

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http://dx.doi.org/10.1002/mgg3.305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606890PMC
September 2017

Erratum: Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia.

J Pediatr Genet 2017 Sep 10;6(3):e1. Epub 2017 May 10.

Division of Medicine, Department of Genetic Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.1055/s-0037-1603198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384184PMC
September 2017

Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia.

J Pediatr Genet 2017 Sep 16;6(3):149-154. Epub 2017 Mar 16.

Division of Medicine, Department of Genetic Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.1055/s-0037-1600131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550012PMC
September 2017

Comprehensive Computational Analysis of GWAS Loci Identifies CCR2 as a Candidate Gene for Celiac Disease Pathogenesis.

J Cell Biochem 2017 08 18;118(8):2193-2207. Epub 2017 Apr 18.

Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.1002/jcb.25864DOI Listing
August 2017

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.

Am J Hum Genet 2016 Nov 20;99(5):1181-1189. Epub 2016 Oct 20.

Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA; Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097947PMC
November 2016

Replication of GWAS Coding SNPs Implicates MMEL1 as a Potential Susceptibility Locus among Saudi Arabian Celiac Disease Patients.

Dis Markers 2015 30;2015:351673. Epub 2015 Dec 30.

Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

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http://dx.doi.org/10.1155/2015/351673DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4710944PMC
September 2016

A Computational Protein Phenotype Prediction Approach to Analyze the Deleterious Mutations of Human MED12 Gene.

J Cell Biochem 2016 09 10;117(9):2023-35. Epub 2016 Feb 10.

Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.1002/jcb.25499DOI Listing
September 2016

Effect of Ramadan fasting in Saudi Arabia on serum bone profile and immunoglobulins.

Ther Adv Endocrinol Metab 2015 Oct;6(5):223-32

Saudi Diabetes Research Group, King Fahd Medical Research Center, King Abdulaziz University, Jeddah, Saudi Arabia.

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http://dx.doi.org/10.1177/2042018815594527DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4579416PMC
October 2015

Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family.

Ann Hum Genet 2015 Sep 23;79(5):350-356. Epub 2015 Jun 23.

Princess Al-Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.

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http://dx.doi.org/10.1111/ahg.12123DOI Listing
September 2015

Case of Sjögren-Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis.

J Dermatol 2015 Jul 9;42(7):706-9. Epub 2015 Apr 9.

Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

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http://dx.doi.org/10.1111/1346-8138.12861DOI Listing
July 2015

Health impact of fasting in Saudi Arabia during Ramadan: association with disturbed circadian rhythm and metabolic and sleeping patterns.

PLoS One 2014 8;9(5):e96500. Epub 2014 May 8.

Saudi Diabetes Study Research Group, King Fahd Medical Research Center, King Abdulaziz University, Jeddah, Saudi Arabia; First Department of Pediatrics, University of Athens Medical School, "Aghia Sophia" Children's Hospital, Athens, Greece.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0096500PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014507PMC
October 2015

Specialty grand challenge - genetic disorders.

Authors:
Jumana Y Al-Aama

Front Pediatr 2013 20;1:36. Epub 2013 Nov 20.

Department of Genetic Medicine, King Abdulaziz University , Jeddah , Saudi Arabia.

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http://dx.doi.org/10.3389/fped.2013.00036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3864254PMC
January 2014

Structural and functional characterization of pathogenic non- synonymous genetic mutations of human insulin-degrading enzyme by in silico methods.

CNS Neurol Disord Drug Targets 2014 Apr;13(3):517-32

Department of Genetic Medicine & Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders (PACER-HD), Faculty of Medicine, King Abdulaziz University, P.O. Box 80205; Jeddah 21589, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.2174/18715273113126660161DOI Listing
April 2014

Congenital heart defects in Down syndrome patients from western Saudi Arabia.

Saudi Med J 2012 Nov;33(11):1211-5

Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.

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November 2012

Prevalence of celiac disease in children with Down syndrome screened by anti-tissue transglutaminase antibodies.

Saudi Med J 2012 Feb;33(2):208-10

Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.

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http://applications.emro.who.int/imemrf/Saudi_Med_J/Saudi_Me
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February 2012

A newly described mutation of the CLCN7 gene causes neuropathic autosomal recessive osteopetrosis in an Arab family.

Clin Dysmorphol 2012 Jan;21(1):1-7

Department of Genetic Medicine and Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

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http://dx.doi.org/10.1097/MCD.0b013e32834af585DOI Listing
January 2012

Attitudes towards mandatory national premarital screening for hereditary hemolytic disorders.

Authors:
Jumana Y Al-Aama

Health Policy 2010 Sep 29;97(1):32-7. Epub 2010 Mar 29.

Princess Al Jawhara Center of Excellence in Research of Hereditary Disorders and Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

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http://dx.doi.org/10.1016/j.healthpol.2010.02.009DOI Listing
September 2010

Planning the human variome project: the Spain report.

Authors:
Jim Kaput Richard G H Cotton Lauren Hardman Michael Watson Aida I Al Aqeel Jumana Y Al-Aama Fahd Al-Mulla Santos Alonso Stefan Aretz Arleen D Auerbach Bharati Bapat Inge T Bernstein Jong Bhak Stacey L Bleoo Helmut Blöcker Steven E Brenner John Burn Mariona Bustamante Rita Calzone Anne Cambon-Thomsen Michele Cargill Paola Carrera Lawrence Cavedon Yoon Shin Cho Yeun-Jun Chung Mireille Claustres Garry Cutting Raymond Dalgleish Johan T den Dunnen Carlos Díaz Steven Dobrowolski M Rosário N dos Santos Rosemary Ekong Simon B Flanagan Paul Flicek Yoichi Furukawa Maurizio Genuardi Ho Ghang Maria V Golubenko Marc S Greenblatt Ada Hamosh John M Hancock Ross Hardison Terence M Harrison Robert Hoffmann Rania Horaitis Heather J Howard Carol Isaacson Barash Neskuts Izagirre Jongsun Jung Toshio Kojima Sandrine Laradi Yeon-Su Lee Jong-Young Lee Vera L Gil-da-Silva-Lopes Finlay A Macrae Donna Maglott Makia J Marafie Steven G E Marsh Yoichi Matsubara Ludwine M Messiaen Gabriela Möslein Mihai G Netea Melissa L Norton Peter J Oefner William S Oetting James C O'Leary Ana Maria Oller de Ramirez Mark H Paalman Jillian Parboosingh George P Patrinos Giuditta Perozzi Ian R Phillips Sue Povey Suyash Prasad Ming Qi David J Quin Rajkumar S Ramesar C Sue Richards Judith Savige Dagmar G Scheible Rodney J Scott Daniela Seminara Elizabeth A Shephard Rolf H Sijmons Timothy D Smith María-Jesús Sobrido Toshihiro Tanaka Sean V Tavtigian Graham R Taylor Jon Teague Thoralf Töpel Mollie Ullman-Cullere Joji Utsunomiya Henk J van Kranen Mauno Vihinen Elizabeth Webb Thomas K Weber Meredith Yeager Young I Yeom Seon-Hee Yim Hyang-Sook Yoo

Hum Mutat 2009 Apr;30(4):496-510

Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA.

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http://compbio.berkeley.edu/people/brenner/pubs/kaput-2009-h
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http://doi.wiley.com/10.1002/humu.20972
Publisher Site
http://dx.doi.org/10.1002/humu.20972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879779PMC
April 2009

Knowledge regarding the national premarital screening program among university students in western Saudi Arabia.

Saudi Med J 2008 Nov;29(11):1649-53

Princess Jawhara Research Center for Hereditary Disorders, King Abdulaziz University, PO Box 11166, Jeddah, Kingdom of Saudi Arabia.

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November 2008

Prevalence of factor V Leiden and prothrombin G20210A gene mutation.

Authors:
Jumana Y Al-Aama

Saudi Med J 2005 Nov;26(11):1844

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November 2005