Bayoumi RA - Search Results

1

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG. Bielas SL, et al. Among authors: bayoumi ra. Nat Genet. 2009 Sep;41(9):1032-6. doi: 10.1038/ng.423. Epub 2009 Aug 9. Nat Genet. 2009. PMID: 19668216 Free PMC article.

2

Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity.

Saar K, Al-Gazali L, Sztriha L, Rueschendorf F, Nur-E-Kamal M, Reis A, Bayoumi R. Saar K, et al. Am J Hum Genet. 1999 Dec;65(6):1666-71. doi: 10.1086/302655. Am J Hum Genet. 1999. PMID: 10577920 Free PMC article.

3

Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26.

Bayoumi R, Saar K, Lee YA, Nürnberg G, Reis A, Nur-E-Kamal M, Al-Gazali LI. Bayoumi R, et al. J Med Genet. 2001 Jun;38(6):369-73. doi: 10.1136/jmg.38.6.369. J Med Genet. 2001. PMID: 11389160 Free PMC article.

4

Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia.

Simsek M, Al-Gazali L, Al-Mjeni R, Bayoumi R. Simsek M, et al. Clin Biochem. 2003 Mar;36(2):151-3. doi: 10.1016/s0009-9120(02)00441-1. Clin Biochem. 2003. PMID: 12633765 No abstract available.

5

The genetic basis of inherited primary nocturnal enuresis: A UAE study.

Bayoumi RA, Eapen V, Al-Yahyaee S, Al Barwani HS, Hill RS, Al Gazali L. Bayoumi RA, et al. J Psychosom Res. 2006 Sep;61(3):317-20. doi: 10.1016/j.jpsychores.2006.05.010. J Psychosom Res. 2006. PMID: 16938508

6

Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.

Eyre S, Roby P, Wolstencroft K, Spreckley K, Aspinwall R, Bayoumi R, Al-Gazali L, Ramesar R, Beighton P, Wallis G. Eyre S, et al. J Med Genet. 2002 Sep;39(9):634-8. doi: 10.1136/jmg.39.9.634. J Med Genet. 2002. PMID: 12205105 Free PMC article.

7

Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.

Eyre S, Roby P, Wolstencroft K, Spreckley K, Aspinwall R, Bayoumi R, Al-Gazali L, Ramesar R, Beighton P, Gleghorn L, Wallis G. Eyre S, et al. J Med Genet. 2005 Jun;42(6):e34. J Med Genet. 2005. PMID: 15937074 Free PMC article. No abstract available.

8

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. Among authors: bayoumi r. 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.

9

Genetic loci associated with heart rate variability and their effects on cardiac disease risk.

Nolte IM, Munoz ML, Tragante V, Amare AT, Jansen R, Vaez A, von der Heyde B, Avery CL, Bis JC, Dierckx B, van Dongen J, Gogarten SM, Goyette P, Hernesniemi J, Huikari V, Hwang SJ, Jaju D, Kerr KF, Kluttig A, Krijthe BP, Kumar J, van der Laan SW, Lyytikäinen LP, Maihofer AX, Minassian A, van der Most PJ, Müller-Nurasyid M, Nivard M, Salvi E, Stewart JD, Thayer JF, Verweij N, Wong A, Zabaneh D, Zafarmand MH, Abdellaoui A, Albarwani S, Albert C, Alonso A, Ashar F, Auvinen J, Axelsson T, Baker DG, de Bakker PIW, Barcella M, Bayoumi R, Bieringa RJ, Boomsma D, Boucher G, Britton AR, Christophersen I, Dietrich A, Ehret GB, Ellinor PT, Eskola M, Felix JF, Floras JS, Franco OH, Friberg P, Gademan MGJ, Geyer MA, Giedraitis V, Hartman CA, Hemerich D, Hofman A, Hottenga JJ, Huikuri H, Hutri-Kähönen N, Jouven X, Junttila J, Juonala M, Kiviniemi AM, Kors JA, Kumari M, Kuznetsova T, Laurie CC, Lefrandt JD, Li Y, Li Y, Liao D, Limacher MC, Lin HJ, Lindgren CM, Lubitz SA, Mahajan A, McKnight B, Zu Schwabedissen HM, Milaneschi Y, Mononen N, Morris AP, Nalls MA, Navis G, Neijts M, Nikus K, North KE, O'Connor DT, Ormel J, Perz S, Peters A, Psaty BM, Raitakari OT, Risbrough VB, Sinner MF, Siscovick D,… See abstract for full author list ➔ Nolte IM, et al. Nat Commun. 2017 Jun 14;8:15805. doi: 10.1038/ncomms15805. Nat Commun. 2017. PMID: 28613276 Free PMC article.

10

Molecular characterization of erythrocyte glucose-6-phosphate dehydrogenase deficiency in Al-Ain District, United Arab Emirates.

Bayoumi RA, Nur-E-Kamal MS, Tadayyon M, Mohamed KK, Mahboob BH, Qureshi MM, Lakhani MS, Awaad MO, Kaeda J, Vulliamy TJ, Luzzatto L. Bayoumi RA, et al. Hum Hered. 1996 May-Jun;46(3):136-41. doi: 10.1159/000154342. Hum Hered. 1996. PMID: 8860007 Clinical Trial.

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