Akawi N - 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. 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

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.

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

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

5

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. Among authors: akawi n. 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.

6

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

7

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

8

Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations.

Akawi NA, Al-Gazali L, Ali BR. Akawi NA, et al. Clin Genet. 2012 Aug;82(2):147-56. doi: 10.1111/j.1399-0004.2011.01734.x. Epub 2011 Jul 18. Clin Genet. 2012. PMID: 21668896

9

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.

10

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. PLoS One. 2011;6(12):e28943. doi: 10.1371/journal.pone.0028943. Epub 2011 Dec 22. PLoS One. 2011. PMID: 22216145 Free PMC article.

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