Ali BR - Search Results

1

Multiomics Analysis Coupled with Text Mining Identify Novel Biomarker Candidates for Recurrent Cardiovascular Events.

Chalikiopoulou C, Bizjan BJ, Leventopoulos G, Smaili K, Blagus T, Menti A, Liopetas J, John A, Ali BR, Dolzan V, Hahalis GN, Patrinos GP, Katsila T. Chalikiopoulou C, et al. Among authors: ali br. OMICS. 2020 Apr;24(4):205-215. doi: 10.1089/omi.2019.0216. Epub 2020 Mar 13. OMICS. 2020. PMID: 32176569

2

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.

3

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.

4

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.

5

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.

6

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

7

Defective cellular trafficking of the bone morphogenetic protein receptor type II by mutations underlying familial pulmonary arterial hypertension.

John A, Kizhakkedath P, Al-Gazali L, Ali BR. John A, et al. Among authors: ali br. Gene. 2015 Apr 25;561(1):148-56. doi: 10.1016/j.gene.2015.02.038. Epub 2015 Feb 14. Gene. 2015. PMID: 25688877

8

Success stories in genomic medicine from resource-limited countries.

Mitropoulos K, Al Jaibeji H, Forero DA, Laissue P, Wonkam A, Lopez-Correa C, Mohamed Z, Chantratita W, Lee MT, Llerena A, Brand A, Ali BR, Patrinos GP. Mitropoulos K, et al. Among authors: ali br. Hum Genomics. 2015 Jun 18;9(1):11. doi: 10.1186/s40246-015-0033-3. Hum Genomics. 2015. PMID: 26081768 Free PMC article.

9

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

Ben-Salem S, Sobreira N, Akawi NA, Al-Shamsi AM, John A, Pramathan T, Valle D, Ali BR, Al-Gazali L. Ben-Salem S, et al. Among authors: ali br. Am J Med Genet A. 2016 Jan;170A(1):156-61. doi: 10.1002/ajmg.a.37405. Epub 2015 Sep 23. Am J Med Genet A. 2016. PMID: 26395437 Free PMC article.

10

Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.

Komara M, John A, Suleiman J, Ali BR, Al-Gazali L. Komara M, et al. Among authors: ali br. Am J Med Genet A. 2016 Feb;170A(2):540-543. doi: 10.1002/ajmg.a.37421. Epub 2015 Oct 5. Am J Med Genet A. 2016. PMID: 26437881 No abstract available.

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