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Items: 1 to 20 of 32

1.

A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy.

Al-Hassnan ZN, Shinwari ZM, Wakil SM, Tulbah S, Mohammed S, Rahbeeni Z, Alghamdi M, Rababh M, Colak D, Kaya N, Al-Fayyadh M, Alburaiki J.

BMC Med Genet. 2016 Jan 14;17(1):3. doi: 10.1186/s12881-016-0267-5.

2.

Novel copy number variants and major limb reduction malformation: Report of three cases.

Shamseldin HE, Anazi S, Wakil SM, Faqeih E, El Khashab HY, Salih MA, Al-Qattan MM, Hashem M, Alsedairy H, Alkuraya FS.

Am J Med Genet A. 2016 Jan 8. doi: 10.1002/ajmg.a.37550. [Epub ahead of print]

PMID:
26749485
3.

A genome-wide association study reveals susceptibility loci for myocardial infarction/coronary artery disease in Saudi Arabs.

Wakil SM, Ram R, Muiya NP, Mehta M, Andres E, Mazhar N, Baz B, Hagos S, Alshahid M, Meyer BF, Morahan G, Dzimiri N.

Atherosclerosis. 2016 Feb;245:62-70. doi: 10.1016/j.atherosclerosis.2015.11.019. Epub 2015 Nov 22.

PMID:
26708285
4.

Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.

Shaheen R, Patel N, Shamseldin H, Alzahrani F, Al-Yamany R, ALMoisheer A, Ewida N, Anazi S, Alnemer M, Elsheikh M, Alfaleh K, Alshammari M, Alhashem A, Alangari AA, Salih MA, Kircher M, Daza RM, Ibrahim N, Wakil SM, Alaqeel A, Altowaijri I, Shendure J, Al-Habib A, Faqieh E, Alkuraya FS.

Genet Med. 2015 Dec 3. doi: 10.1038/gim.2015.147. [Epub ahead of print]

PMID:
26633546
5.

Erratum: A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

Al-Tassan NA, Whiffin N, Hosking FJ, Palles C, Farrington SM, Dobbins SE, Harris R, Gorman M, Tenesa A, Meyer BF, Wakil SM, Kinnersley B, Campbell H, Martin L, Smith CG, Idziaszczyk S, Barclay E, Maughan TS, Kaplan R, Kerr R, Kerr D, Buchanan DD, Win AK, Hopper J, Jenkins M, Lindor NM, Newcomb PA, Gallinger S, Conti D, Schumacher F, Casey G, Dunlop MG, Tomlinson IP, Cheadle JP, Houlston RS.

Sci Rep. 2015 Aug 3;5:12372. doi: 10.1038/srep12372. No abstract available.

6.

A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia.

Jan A, Basit S, Wakil SM, Ramzan K, Ahmad W.

Arch Dermatol Res. 2015 Nov;307(9):793-801. doi: 10.1007/s00403-015-1590-y. Epub 2015 Jul 7.

PMID:
26148547
7.

Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1-q32.2.

Jan A, Basit S, Wakil SM, Ramzan K, Ahmad W.

J Dermatol Sci. 2015 Aug;79(2):173-5. doi: 10.1016/j.jdermsci.2015.04.012. Epub 2015 May 6. No abstract available.

PMID:
25999149
8.

A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

Al-Tassan NA, Whiffin N, Hosking FJ, Palles C, Farrington SM, Dobbins SE, Harris R, Gorman M, Tenesa A, Meyer BF, Wakil SM, Kinnersley B, Campbell H, Martin L, Smith CG, Idziaszczyk S, Barclay E, Maughan TS, Kaplan R, Kerr R, Kerr D, Buchanan DD, Ko Win A, Hopper J, Jenkins M, Lindor NM, Newcomb PA, Gallinger S, Conti D, Schumacher F, Casey G, Dunlop MG, Tomlinson IP, Cheadle JP, Houlston RS.

Sci Rep. 2015 May 20;5:10442. doi: 10.1038/srep10442. Erratum in: Sci Rep. 2015;5:12372. Buchannan, Daniel D [corrected to Buchanan, Daniel D].

9.

The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Wakil SM, Nguyen C, Muiya NP, Andres E, Lykowska-Tarnowska A, Baz B, Tahir AI, Meyer BF, Morahan G, Dzimiri N.

Dis Markers. 2015;2015:542543. doi: 10.1155/2015/542543. Epub 2015 Feb 22.

10.

Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus.

Shaheen R, Al Hashem A, Alghamdi MH, Seidahmad MZ, Wakil SM, Dagriri K, Keavney B, Goodship J, Alyousif S, Al-Habshan FM, Alhussein K, Almoisheer A, Ibrahim N, Alkuraya FS.

J Med Genet. 2015 May;52(5):322-9. doi: 10.1136/jmedgenet-2015-102992. Epub 2015 Feb 23.

PMID:
25713110
11.

Genotyping of CYP2C19 polymorphisms and its clinical validation in the ethnic Arab population.

Tayeb HT, Bakheet DH, Zaza K, Wakil SM, Dzimiri N.

J Pharm Pharmacol. 2015 Jul;67(7):972-9. doi: 10.1111/jphp.12391. Epub 2015 Feb 14.

PMID:
25684066
12.

A novel APC mutation defines a second locus for Cenani-Lenz syndrome.

Patel N, Faqeih E, Anazi S, Alfawareh M, Wakil SM, Colak D, Alkuraya FS.

J Med Genet. 2015 May;52(5):317-21. doi: 10.1136/jmedgenet-2014-102850. Epub 2015 Feb 12.

PMID:
25676610
13.

The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.

Al-Qattan SM, Wakil SM, Anazi S, Alazami AM, Patel N, Shaheen R, Shamseldin HE, Hagos ST, AlDossari HM, Salih MA, El Khashab HY, Kentab AY, AlNasser MN, Bashiri FA, Kaya N, Hashem MO, Alkuraya FS.

Genet Med. 2015 Sep;17(9):719-25. doi: 10.1038/gim.2014.184. Epub 2014 Dec 11.

PMID:
25503496
14.

Long-term effects of 4 popular diets on weight loss and cardiovascular risk factors: a systematic review of randomized controlled trials.

Atallah R, Filion KB, Wakil SM, Genest J, Joseph L, Poirier P, Rinfret S, Schiffrin EL, Eisenberg MJ.

Circ Cardiovasc Qual Outcomes. 2014 Nov;7(6):815-27. doi: 10.1161/CIRCOUTCOMES.113.000723. Epub 2014 Nov 11. Review.

15.

Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.

Wakil SM, Monies DM, Abouelhoda M, Al-Tassan N, Al-Dusery H, Naim EA, Al-Younes B, Shinwari J, Al-Mohanna FA, Meyer BF, Al-Mayouf S.

Arthritis Rheumatol. 2015 Jan;67(1):288-95. doi: 10.1002/art.38877.

16.

A new susceptibility locus for myocardial infarction, hypertension, type 2 diabetes mellitus, and dyslipidemia on chromosome 12q24.

Wakil SM, Muiya NP, Tahir AI, Al-Najai M, Baz B, Andres E, Mazhar N, Al Tassan N, Alshahid M, Meyer BF, Dzimiri N.

Dis Markers. 2014;2014:291419. doi: 10.1155/2014/291419. Epub 2014 Jun 26.

17.

Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.

Monies DM, Al-Hindi HN, Al-Muhaizea MA, Jaroudi DJ, Al-Younes B, Naim EA, Wakil SM, Meyer BF, Bohlega S.

Neuromuscul Disord. 2014 Apr;24(4):353-9. doi: 10.1016/j.nmd.2013.12.010. Epub 2014 Jan 4.

PMID:
24461433
18.

A study of the role of GATA4 polymorphism in cardiovascular metabolic disorders.

Muiya NP, Wakil SM, Tahir AI, Hagos S, Najai M, Gueco D, Al-Tassan N, Andres E, Mazher N, Meyer BF, Dzimiri N.

Hum Genomics. 2013 Dec 12;7:25. doi: 10.1186/1479-7364-7-25.

19.

Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.

Wakil SM, Ramzan K, Abuthuraya R, Hagos S, Al-Dossari H, Al-Omar R, Murad H, Chedrawi A, Al-Hassnan ZN, Finsterer J, Bohlega S.

Gene. 2014 Feb 15;536(1):217-20. doi: 10.1016/j.gene.2013.11.043. Epub 2013 Dec 4.

PMID:
24315819
20.

Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia.

Wakil SM, Monies DM, Ramzan K, Hagos S, Bastaki L, Meyer BF, Bohlega S.

Clin Genet. 2014 Nov;86(5):500-1. doi: 10.1111/cge.12312. Epub 2013 Nov 27. No abstract available.

PMID:
24283893
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