Ali BR - Search Results

1

Genetic polymorphisms of cytochrome P450-1A2 (CYP1A2) among Emiratis.

Al-Ahmad MM, Amir N, Dhanasekaran S, John A, Abdulrazzaq YM, Ali BR, Bastaki SMA. Al-Ahmad MM, et al. Among authors: ali br. PLoS One. 2017 Sep 21;12(9):e0183424. doi: 10.1371/journal.pone.0183424. eCollection 2017. PLoS One. 2017. PMID: 28934216 Free PMC article.

2

R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.

Abdulrazzaq YM, Ibrahim A, Al-Khayat AI, Nagelkerke N, Ali BR. Abdulrazzaq YM, et al. Among authors: ali br. Ann Hum Genet. 2009 Jan;73(1):125-30. doi: 10.1111/j.1469-1809.2008.00485.x. Epub 2008 Oct 20. Ann Hum Genet. 2009. PMID: 18945288

3

Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux.

Hume AN, Buttgereit J, Al-Awadhi AM, Al-Suwaidi SS, John A, Bader M, Seabra MC, Al-Gazali L, Ali BR. Hume AN, et al. Among authors: ali br. Hum Mol Genet. 2009 Jan 15;18(2):267-77. doi: 10.1093/hmg/ddn354. Epub 2008 Oct 22. Hum Mol Genet. 2009. PMID: 18945719 Free PMC article.

4

Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients.

Ali BR, Xu H, Akawi NA, John A, Karuvantevida NS, Langer R, Al-Gazali L, Leitinger B. Ali BR, et al. Hum Mol Genet. 2010 Jun 1;19(11):2239-50. doi: 10.1093/hmg/ddq103. Epub 2010 Mar 10. Hum Mol Genet. 2010. PMID: 20223752 Free PMC article.

5

Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.

Ali BR, Ben-Rebeh I, John A, Akawi NA, Milhem RM, Al-Shehhi NA, Al-Ameri MM, Al-Shamisi SA, Al-Gazali L. Ali BR, et al. PLoS One. 2011;6(10):e26206. doi: 10.1371/journal.pone.0026206. Epub 2011 Oct 14. PLoS One. 2011. PMID: 22022569 Free PMC article.

6

Identification of new alleles and the determination of alleles and genotypes frequencies at the CYP2D6 gene in Emiratis.

Qumsieh RY, Ali BR, Abdulrazzaq YM, Osman O, Akawi NA, Bastaki SM. Qumsieh RY, et al. Among authors: ali br. PLoS One. 2011;6(12):e28943. doi: 10.1371/journal.pone.0028943. Epub 2011 Dec 22. PLoS One. 2011. PMID: 22216145 Free PMC article.

7

Determination of the CCR5∆32 frequency in Emiratis and Tunisians and the screening of the CCR5 gene for novel alleles in Emiratis.

Al-Jaberi SA, Ben-Salem S, Messedi M, Ayadi F, Al-Gazali L, Ali BR. Al-Jaberi SA, et al. Among authors: ali br. Gene. 2013 Oct 15;529(1):113-8. doi: 10.1016/j.gene.2013.07.062. Epub 2013 Aug 9. Gene. 2013. PMID: 23933274

8

A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking.

Al-Kindi A, Kizhakkedath P, Xu H, John A, Sayegh AA, Ganesh A, Al-Awadi M, Al-Anbouri L, Al-Gazali L, Leitinger B, Ali BR. Al-Kindi A, et al. Among authors: ali br. BMC Med Genet. 2014 Apr 11;15:42. doi: 10.1186/1471-2350-15-42. BMC Med Genet. 2014. PMID: 24725993 Free PMC article.

9

Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndrome.

Kizhakkedath P, Loregger A, John A, Bleijlevens B, Al-Blooshi AS, Al-Hosani AH, Al-Nuaimi AM, Al-Gazali L, Zelcer N, Ali BR. Kizhakkedath P, et al. Among authors: ali br. Biochim Biophys Acta. 2014 Dec;1843(12):2871-7. doi: 10.1016/j.bbamcr.2014.08.013. Epub 2014 Aug 27. Biochim Biophys Acta. 2014. PMID: 25173816 Free article.

10

A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy.

Ben-Salem S, Al-Shamsi AM, John A, Ali BR, Al-Gazali L. Ben-Salem S, et al. Among authors: ali br. J Mol Neurosci. 2015 May;56(1):17-23. doi: 10.1007/s12031-014-0463-8. Epub 2014 Nov 18. J Mol Neurosci. 2015. PMID: 25403906

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