Ali BR - Search Results

1

Genomic variants in members of the Krüppel-like factor gene family are associated with disease severity and hydroxyurea treatment efficacy in β-hemoglobinopathies patients.

Stratopoulos A, Kolliopoulou A, Karamperis K, John A, Kydonopoulou K, Esftathiou G, Sgourou A, Kourakli A, Vlachaki E, Chalkia P, Theodoridou S, Papadakis MN, Gerou S, Symeonidis A, Katsila T, Ali BR, Papachatzopoulou A, Patrinos GP. Stratopoulos A, et al. Among authors: ali br. Pharmacogenomics. 2019 Jul;20(11):791-801. doi: 10.2217/pgs-2019-0063. Epub 2019 Aug 8. Pharmacogenomics. 2019. PMID: 31393228

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 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

5

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

6

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.

7

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.

8

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.

9

FGF23-S129F mutant bypasses ER/Golgi to the circulation of hyperphosphatemic familial tumoral calcinosis patients.

Shawar SM, Ramadan AR, Ali BR, Alghamdi MA, John A, Hudaib FM. Shawar SM, et al. Among authors: ali br. Bone. 2016 Dec;93:187-195. doi: 10.1016/j.bone.2015.11.015. Epub 2015 Nov 24. Bone. 2016. PMID: 26620085

10

Genomic variants in the ASS1 gene, involved in the nitric oxide biosynthesis and signaling pathway, predict hydroxyurea treatment efficacy in compound sickle cell disease/β-thalassemia patients.

Chalikiopoulou C, Tavianatou AG, Sgourou A, Kourakli A, Kelepouri D, Chrysanthakopoulou M, Kanelaki VK, Mourdoukoutas E, Siamoglou S, John A, Symeonidis A, Ali BR, Katsila T, Papachatzopoulou A, Patrinos GP. Chalikiopoulou C, et al. Among authors: ali br. Pharmacogenomics. 2016 Mar;17(4):393-403. doi: 10.2217/pgs.16.1. Epub 2016 Feb 19. Pharmacogenomics. 2016. PMID: 26895070

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

183 results

Search Page

Filters