Al-Gazali L - Search Results

1

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. 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.

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. 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

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. 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

4

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. Saudi Med J. 2009 Dec;30(12):1601-3. Saudi Med J. 2009. PMID: 19936428

5

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.

6

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.

7

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. Hum Mutat. 2010 May;31(5):505-20. doi: 10.1002/humu.21232. Hum Mutat. 2010. PMID: 20437613 Review.

8

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. J Obstet Gynaecol. 2010;30(6):628-30. doi: 10.3109/01443615.2010.492881. J Obstet Gynaecol. 2010. PMID: 20701518 Free article. No abstract available.

9

New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.

Ali BR, Hertecant JL, Al-Jasmi FA, Hamdan MA, Khuri SF, Akawi NA, Al-Gazali LI. Ali BR, et al. Saudi Med J. 2011 Apr;32(4):353-9. Saudi Med J. 2011. PMID: 21483992

10

Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?

Akawi NA, Ali BR, Hamamy H, Al-Hadidy A, Al-Gazali L. Akawi NA, et al. Am J Med Genet A. 2011 Jun;155A(6):1236-45. doi: 10.1002/ajmg.a.34009. Epub 2011 May 5. Am J Med Genet A. 2011. PMID: 21548126

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