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Exploring the role of Islam on the lived experience of patients with Long QT Syndrome in Saudi Arabia.
Published in:
Journal of Genetic Counseling, 2022, v. 31, n. 4, p. 922, doi. 10.1002/jgc4.1562
By:
- Bakur, Khadijah H.;
- Al‐Aama, Jumana Y.;
- Alhassnan, Zuhair N.;
- Brooks, Helen;
- Clancy, Tara;
- Manea, Waleed;
- Takroni, Saud A.;
- Ulph, Fiona
Publication type:
Article
Detection of Secondary Metabolites as Biomarkers for the Early Diagnosis and Prevention of Type 2 Diabetes.
Published in:
Diabetes, Metabolic Syndrome & Obesity: Targets & Therapy, 2019, v. 12, p. 2675, doi. 10.2147/DMSO.S215528
By:
- Al-Aama, Jumana Y;
- Mahdi, Hadiah B Al;
- Salama, Mohammed A;
- Bakur, Khadija H;
- Alhozali, Amani;
- Mosli, Hala H;
- Bahijri, Suhad M;
- Bahieldin, Ahmed;
- Willmitzer, Lothar;
- Edris, Sherif
Publication type:
Article
Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2733, doi. 10.1002/ajmg.a.35681
By:
- de Munnik, Sonja A.;
- Otten, Barto J.;
- Schoots, Jeroen;
- Bicknell, Louise S.;
- Aftimos, Salim;
- Al-Aama, Jumana Y.;
- van Bever, Yolande;
- Bober, Michael B.;
- Borm, George F.;
- Clayton-Smith, Jill;
- Deal, Cheri L.;
- Edrees, Alaa Y.;
- Feingold, Murray;
- Fryer, Alan;
- van Hagen, Johanna M.;
- Hennekam, Raoul C.;
- Jansweijer, Maaike C.E.;
- Johnson, Diana;
- Kant, Sarina G.;
- Opitz, John M.
Publication type:
Article
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
Published in:
Nature Genetics, 2011, v. 43, n. 4, p. 356, doi. 10.1038/ng.775
By:
- Bicknell, Louise S.;
- Bongers, Ernie M. H. F.;
- Leitch, Andrea;
- Brown, Stephen;
- Schoots, Jeroen;
- Harley, Margaret E.;
- Aftimos, Salim;
- Al-Aama, Jumana Y.;
- Bober, Michael;
- Brown, Paul A. J.;
- van Bokhoven, Hans;
- Dean, John;
- Edrees, Alaa Y.;
- Feingold, Murray;
- Fryer, Alan;
- Hoefsloot, Lies H;
- Kau, Nikolaus;
- Knoers, Nine V. A. M.;
- MacKenzie, James;
- Opitz, John M.
Publication type:
Article
Environmental Risk Factors in the Etiology of Nonsyndromic Orofacial Clefts in the Western Region of Saudi Arabia.
Published in:
Cleft Palate Craniofacial Journal, 2016, v. 53, n. 4, p. 435, doi. 10.1597/14-136
By:
- Sabbagh, Heba J.;
- Alamoudi, Najlaa M.;
- Abdulhameed, Fatma Dawood;
- Innes, Nicola P. T.;
- Al-Aama, Jumana Y.;
- Hummaida, Tarig;
- Almalik, Manal;
- El Derwi, Douaa A.;
- Mossey, Peter A.
Publication type:
Article
Health Impact of Fasting in Saudi Arabia during Ramadan: Association with Disturbed Circadian Rhythm and Metabolic and Sleeping Patterns.
Published in:
PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096500
By:
- Ajabnoor, Ghada M.;
- Bahijri, Suhad;
- Borai, Anwar;
- Abdulkhaliq, Altaf A.;
- Al-Aama, Jumana Y.;
- Chrousos, George P.
Publication type:
Article
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 6, p. 598, doi. 10.1038/ejhg.2011.269
By:
- de Munnik, Sonja A;
- Bicknell, Louise S;
- Aftimos, Salim;
- Al-Aama, Jumana Y;
- van Bever, Yolande;
- Bober, Michael B;
- Clayton-Smith, Jill;
- Edrees, Alaa Y;
- Feingold, Murray;
- Fryer, Alan;
- van Hagen, Johanna M;
- Hennekam, Raoul C;
- Jansweijer, Maaike C E;
- Johnson, Diana;
- Kant, Sarina G;
- Opitz, John M;
- Ramadevi, A Radha;
- Reardon, Willie;
- Ross, Alison;
- Sarda, Pierre
Publication type:
Article
Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non‐Herlitz junctional epidermolysis bullosa in two paternal half‐brothers from Saudi Arabia.
Published in:
Congenital Anomalies, 2019, v. 59, n. 3, p. 99, doi. 10.1111/cga.12294
By:
- Al‐Zahrani, Hams S.;
- Al‐Tala, Saeed;
- Mohamoud, Hussein S. A.;
- Al‐Shehri, Bandar A.;
- Al‐Fadhel, Saeed;
- Al‐Qurashi, Ali;
- Al‐Bishri, Ahmad;
- Al‐Aama, Jumana Y.;
- Kang, Changsoo;
- Betz, Regina C.;
- Jelani, Musharraf
Publication type:
Article
Comprehensive Computational Analysis of GWAS Loci Identifies CCR2 as a Candidate Gene for Celiac Disease Pathogenesis.
Published in:
Journal of Cellular Biochemistry, 2017, v. 118, n. 8, p. 2193, doi. 10.1002/jcb.25864
By:
- Banaganapalli, Babajan;
- Rashidi, Omran;
- Saadah, Omar I.;
- Wang, Jun;
- Khan, Imran Ali;
- Al‐Aama, Jumana Y.;
- Shaik, Noor Ahmad;
- Elango, Ramu
Publication type:
Article
A Computational Protein Phenotype Prediction Approach to Analyze the Deleterious Mutations of Human MED12 Gene.
Published in:
Journal of Cellular Biochemistry, 2016, v. 117, n. 9, p. 2023, doi. 10.1002/jcb.25499
By:
- Banaganapalli, Babajan;
- Mohammed, Kaleemuddin;
- Khan, Imran Ali;
- Al‐Aama, Jumana Y.;
- Elango, Ramu;
- Shaik, Noor Ahmad
Publication type:
Article
Cover Image, Volume 117, Number 9, September 2016.
Published in:
2016
By:
- Banaganapalli, Babajan;
- Mohammed, Kaleemuddin;
- Khan, Imran Ali;
- Al‐Aama, Jumana Y.;
- Elango, Ramu;
- Shaik, Noor Ahmad
Publication type:
Other
Replication of GWAS Coding SNPs Implicates MMEL1 as a Potential Susceptibility Locus among Saudi Arabian Celiac Disease Patients.
Published in:
Disease Markers, 2015, p. 1, doi. 10.1155/2015/351673
By:
- Saadah, Omar I.;
- Shaik, Noor Ahmad;
- Banaganapalli, Babajan;
- Salama, Mohammed A.;
- Al-Harthi, Sameer E.;
- Wang, Jun;
- Shawoosh, Harbi A.;
- Alghamdi, Sharifa A.;
- Bin-Taleb, Yagoub Y.;
- Alhussaini, Bakr H.;
- Elango, Ramu;
- Al-Aama, Jumana Y.
Publication type:
Article
Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family.
Published in:
Annals of Human Genetics, 2015, v. 79, n. 5, p. 350, doi. 10.1111/ahg.12123
By:
- Serafi, Rehab;
- Jelani, Musharraf;
- Almramhi, Mona M.;
- Mohamoud, Hussein S.A.;
- Ahmed, Saleem;
- Alkhiary, Yaser M.;
- Zhang, Jianguo;
- Yang, Huanming;
- Al‐Aama, Jumana Y.
Publication type:
Article
Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 5, p. 592, doi. 10.1002/mgg3.305
By:
- Bdier, Amnah Y.;
- Al ‐ Ghamdi, Saleh;
- Verma, Prashant K.;
- Dagriri, Khalid;
- Alshehri, Bandar;
- Jiman, Omamah A.;
- Ahmed, Sherif E.;
- Wilde, Arthur A. M.;
- Bhuiyan, Zahurul A.;
- Al ‐ Aama, Jumana Y.
Publication type:
Article
Case of Sjögren-Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis.
Published in:
Journal of Dermatology, 2015, v. 42, n. 7, p. 706, doi. 10.1111/1346-8138.12861
By:
- Gaboon, Nagwa E. A.;
- Jelani, Musharraf;
- Almramhi, Mona M.;
- Mohamoud, Hussein S. A.;
- Al‐Aama, Jumana Y.
Publication type:
Article
How to catch all those mutations-the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010.
Published in:
Human Mutation, 2010, v. 31, n. 12, p. 1374, doi. 10.1002/humu.21379
By:
- Kohonen-Corish, Maija R.J.;
- Al-Aama, Jumana Y.;
- Auerbach, Arleen D.;
- Axton, Myles;
- Barash, Carol Isaacson;
- Bernstein, Inge;
- Béroud, Christophe;
- Burn, John;
- Cunningham, Fiona;
- Cutting, Garry R.;
- den Dunnen, Johan T.;
- Greenblatt, Marc S.;
- Kaput, Jim;
- Katz, Michael;
- Lindblom, Annika;
- Macrae, Finlay;
- Maglott, Donna;
- Möslein, Gabriela;
- Povey, Sue;
- Ramesar, Raj
Publication type:
Article
Planning the Human Variome Project: The Spain report.
Published in:
Human Mutation, 2009, v. 30, n. 4, p. 496, doi. 10.1002/humu.20972
By:
- Kaput, Jim;
- Cotton, Richard G.H.;
- Hardman, Lauren;
- Watson, Michael;
- Al Aqeel, Aida I.;
- Al-Aama, Jumana Y.;
- Al-Mulla, Fahd;
- Alonso, Santos;
- Aretz, Stefan;
- Auerbach, Arleen D.;
- Bapat, Bharati;
- Bernstein, Inge T.;
- Bhak, Jong;
- Bleoo, Stacey L.;
- Blöcker, Helmut;
- Brenner, Steven E.;
- Burn, John;
- Bustamante, Mariona;
- Calzone, Rita;
- Cambon-Thomsen, Anne
Publication type:
Article
Ramadan fasting in Saudi Arabia is associated with altered expression of CLOCK, DUSP and IL-1alpha genes, as well as changes in cardiometabolic risk factors.
Published in:
PLoS ONE, 2017, v. 12, n. 4, p. 1, doi. 10.1371/journal.pone.0174342
By:
- Ajabnoor, Ghada M. A.;
- Bahijri, Suhad;
- Shaik, Noor Ahmad;
- Borai, Anwar;
- Alamoudi, Aliaa A.;
- Al-Aama, Jumana Y.;
- Chrousos, George P.
Publication type:
Article
Modulation of doxorubicin-induced expression of the multidrug resistance gene in breast cancer cells by diltiazem and protection against cardiotoxicity in experimental animals.
Published in:
Cancer Cell International, 2019, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12935-019-0912-0
By:
- Al-malky, Hamdan S.;
- Osman, Abdel-Moneim M.;
- Damanhouri, Zoheir A.;
- Alkreathy, Huda M.;
- Al Aama, Jumana Y.;
- Ramadan, Wafaa S.;
- Al Qahtani, Ali A.;
- Al Mahdi, Hadiah B.
Publication type:
Article

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