Ben-Salem S - 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

Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.

Hertecant JL, Ben-Rebeh I, Marah MA, Abbas T, Ayadi L, Ben Salem S, Al-Jasmi FA, Al-Gazali L, Al-Yahyaee SA, Ali BR. Hertecant JL, et al. Eur J Med Genet. 2012 Dec;55(12):671-6. doi: 10.1016/j.ejmg.2012.08.001. Epub 2012 Aug 16. Eur J Med Genet. 2012. PMID: 22960500

3

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.

Schuurs-Hoeijmakers JH, Geraghty MT, Kamsteeg EJ, Ben-Salem S, de Bot ST, Nijhof B, van de Vondervoort II, van der Graaf M, Nobau AC, Otte-Höller I, Vermeer S, Smith AC, Humphreys P, Schwartzentruber J; FORGE Canada Consortium; Ali BR, Al-Yahyaee SA, Tariq S, Pramathan T, Bayoumi R, Kremer HP, van de Warrenburg BP, van den Akker WM, Gilissen C, Veltman JA, Janssen IM, Vulto-van Silfhout AT, van der Velde-Visser S, Lefeber DJ, Diekstra A, Erasmus CE, Willemsen MA, Vissers LE, Lammens M, van Bokhoven H, Brunner HG, Wevers RA, Schenck A, Al-Gazali L, de Vries BB, de Brouwer AP. Schuurs-Hoeijmakers JH, et al. Am J Hum Genet. 2012 Dec 7;91(6):1073-81. doi: 10.1016/j.ajhg.2012.10.017. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176823 Free PMC article.

4

A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family.

Ben-Salem S, Begum MA, Ali BR, Al-Gazali L. Ben-Salem S, et al. Mol Syndromol. 2013 Jan;3(6):255-61. doi: 10.1159/000345653. Epub 2012 Dec 1. Mol Syndromol. 2013. PMID: 23599695 Free PMC article.

5

Determination of the CCR5∆32 frequency in Emiratis and Tunisians and the screening of the CCR5 gene for novel alleles in Emiratis.

Al-Jaberi SA, Ben-Salem S, Messedi M, Ayadi F, Al-Gazali L, Ali BR. Al-Jaberi SA, et al. Gene. 2013 Oct 15;529(1):113-8. doi: 10.1016/j.gene.2013.07.062. Epub 2013 Aug 9. Gene. 2013. PMID: 23933274

6

Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.

Ben-Salem S, Hertecant J, Al-Shamsi AM, Ali BR, Al-Gazali L. Ben-Salem S, et al. Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):764-9. doi: 10.1002/bdra.23170. Epub 2013 Sep 6. Birth Defects Res A Clin Mol Teratol. 2013. PMID: 24014090

7

Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.

Ben-Salem S, Rehm HL, Willems PJ, Tamimi ZA, Ayadi H, Ali BR, Al-Gazali L. Ben-Salem S, et al. Mol Biol Rep. 2014 Jan;41(1):193-200. doi: 10.1007/s11033-013-2851-5. Epub 2013 Nov 6. Mol Biol Rep. 2014. PMID: 24194196

8

The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.

Ben-Salem S, Al-Shamsi AM, Ali BR, Al-Gazali L. Ben-Salem S, et al. Childs Nerv Syst. 2014 Jul;30(7):1183-9. doi: 10.1007/s00381-013-2352-9. Epub 2014 Jan 11. Childs Nerv Syst. 2014. PMID: 24413922

9

METTL23, a transcriptional partner of GABPA, is essential for human cognition.

Reiff RE, Ali BR, Baron B, Yu TW, Ben-Salem S, Coulter ME, Schubert CR, Hill RS, Akawi NA, Al-Younes B, Kaya N, Evrony GD, Al-Saffar M, Felie JM, Partlow JN, Sunu CM, Schembri-Wismayer P, Alkuraya FS, Meyer BF, Walsh CA, Al-Gazali L, Mochida GH. Reiff RE, et al. Hum Mol Genet. 2014 Jul 1;23(13):3456-66. doi: 10.1093/hmg/ddu054. Epub 2014 Feb 5. Hum Mol Genet. 2014. PMID: 24501276 Free PMC article.

10

Identification of the cellular mechanisms that modulate trafficking of frizzled family receptor 4 (FZD4) missense mutants associated with familial exudative vitreoretinopathy.

Milhem RM, Ben-Salem S, Al-Gazali L, Ali BR. Milhem RM, et al. Invest Ophthalmol Vis Sci. 2014 Apr 17;55(6):3423-31. doi: 10.1167/iovs.14-13885. Invest Ophthalmol Vis Sci. 2014. PMID: 24744206

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