Ali BR - Search Results

1

A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.

Akawi N, Ben-Salem S, Lahti L, Partanen J, Ali BR, Al-Gazali L. Akawi N, et al. Among authors: ali br. Am J Med Genet A. 2016 Aug;170(8):2111-8. doi: 10.1002/ajmg.a.37741. Epub 2016 May 17. Am J Med Genet A. 2016. PMID: 27183861 Review.

2

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.

Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F; International Joubert Syndrome Related Disorders Study Group; Valente EM, Woods CG, Gleeson JG. Cantagrel V, et al. Among authors: ali br. Am J Hum Genet. 2008 Aug;83(2):170-9. doi: 10.1016/j.ajhg.2008.06.023. Am J Hum Genet. 2008. PMID: 18674751 Free PMC article.

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

Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new syndrome?

Al-Gazali L, Shather B, Kaplan W, Algawi K, Ali BR. Al-Gazali L, et al. Among authors: ali br. Am J Med Genet A. 2009 Feb;149A(2):251-6. doi: 10.1002/ajmg.a.32626. Am J Med Genet A. 2009. PMID: 19161143

5

A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family.

Hertecant JL, Al-Gazali LI, Karuvantevida NS, Ali BR. Hertecant JL, et al. Among authors: ali br. Saudi Med J. 2009 Dec;30(12):1601-3. Saudi Med J. 2009. PMID: 19936428

6

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.

Ali BR, Akawi NA, Chedid F, Bakir M, Ur Rehman M, Rahmani A, Al-Gazali L. Ali BR, et al. BMC Med Genet. 2010 Feb 25;11:33. doi: 10.1186/1471-2350-11-33. BMC Med Genet. 2010. PMID: 20184732 Free PMC article.

7

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.

8

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).

Al-Gazali L, Ali BR. Al-Gazali L, et al. Among authors: ali br. Hum Mutat. 2010 May;31(5):505-20. doi: 10.1002/humu.21232. Hum Mutat. 2010. PMID: 20437613 Review.

9

Prenatal diagnosis of thanatophoric dysplasia and obstetrical challenges.

Bekdache GN, Begum M, Al-Gazali L, Ali BR, Akawi NA, Mirghani H. Bekdache GN, et al. Among authors: ali br. J Obstet Gynaecol. 2010;30(6):628-30. doi: 10.3109/01443615.2010.492881. J Obstet Gynaecol. 2010. PMID: 20701518 No abstract available.

10

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

Mochida GH, Ganesh VS, Felie JM, Gleason D, Hill RS, Clapham KR, Rakiec D, Tan WH, Akawi N, Al-Saffar M, Partlow JN, Tinschert S, Barkovich AJ, Ali B, Al-Gazali L, Walsh CA. Mochida GH, et al. Am J Hum Genet. 2010 Dec 10;87(6):882-9. doi: 10.1016/j.ajhg.2010.10.026. Epub 2010 Nov 25. Am J Hum Genet. 2010. PMID: 21109224 Free PMC article.

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