Amr K - Search Results

1

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.

Aglan M, Amr K, Ismail S, Ashour A, Otaify GA, Mehrez MA, Aboul-Ezz EH, El-Ruby M, Mazen I, Abdel-Hamid MS, Temtamy SA. Aglan M, et al. Among authors: amr k. Am J Med Genet A. 2015 Dec;167A(12):3054-61. doi: 10.1002/ajmg.a.37287. Epub 2015 Aug 18. Am J Med Genet A. 2015. PMID: 26284319

2

Assay for hepatitis C virus in peripheral blood mononuclear cells enhances sensitivity of diagnosis and monitoring of HCV-associated hepatitis.

El-Awady MK, Ismail SM, El-Sagheer M, Sabour YA, Amr KS, Zaki EA. El-Awady MK, et al. Among authors: amr ks. Clin Chim Acta. 1999 May;283(1-2):1-14. doi: 10.1016/s0009-8981(99)00007-8. Clin Chim Acta. 1999. PMID: 10404726 Clinical Trial.

3

Schistosoma hematobium soluble egg antigens induce proliferation of urothelial and endothelial cells.

El-Awady MK, Gad YZ, Wen Y, Eassawi M, Effat L, Amr KS, Ismail S, Christ GJ. El-Awady MK, et al. Among authors: amr ks. World J Urol. 2001 Aug;19(4):263-6. doi: 10.1007/s003450100217. World J Urol. 2001. PMID: 11550787

4

The milder phenotype of the dystrophin gene double deletions.

El-Harouni AA, Amr KS, Effat LK, Eassawi ML, Ismail S, Gad YZ, El-Awady MK. El-Harouni AA, et al. Among authors: amr ks. Acta Neurol Scand. 2003 Jun;107(6):400-4. doi: 10.1034/j.1600-0404.2003.00072.x. Acta Neurol Scand. 2003. PMID: 12757471

5

Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.

Temtamy SA, Aglan MS, Valencia M, Cocchi G, Pacheco M, Ashour AM, Amr KS, Helmy SM, El-Gammal MA, Wright M, Lapunzina P, Goodship JA, Ruiz-Perez VL. Temtamy SA, et al. Hum Mutat. 2008 Jul;29(7):931-8. doi: 10.1002/humu.20778. Hum Mutat. 2008. PMID: 18454448

6

A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient.

Mazen I, El-Gammal M, Abdel-Hamid M, Amr K. Mazen I, et al. Among authors: amr k. Mol Genet Metab. 2009 Aug;97(4):305-8. doi: 10.1016/j.ymgme.2009.04.002. Epub 2009 Apr 9. Mol Genet Metab. 2009. PMID: 19427251

7

Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms.

Amr K, Katoury A, Abdel-Hamid M, Bassiouni R, Ibrahim M, Fateen E. Amr K, et al. Genet Test Mol Biomarkers. 2009 Dec;13(6):761-4. doi: 10.1089/gtmb.2009.0057. Genet Test Mol Biomarkers. 2009. PMID: 19839758

8

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.

Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B. Li Y, et al. Among authors: amr k. Am J Hum Genet. 2010 May 14;86(5):696-706. doi: 10.1016/j.ajhg.2010.03.004. Epub 2010 Apr 8. Am J Hum Genet. 2010. PMID: 20381006 Free PMC article.

9

Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.

Lapunzina P, Aglan M, Temtamy S, Caparrós-Martín JA, Valencia M, Letón R, Martínez-Glez V, Elhossini R, Amr K, Vilaboa N, Ruiz-Perez VL. Lapunzina P, et al. Among authors: amr k. Am J Hum Genet. 2010 Jul 9;87(1):110-4. doi: 10.1016/j.ajhg.2010.05.016. Epub 2010 Jun 24. Am J Hum Genet. 2010. PMID: 20579626 Free PMC article.

10

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.

Li Y, Laue K, Temtamy S, Aglan M, Kotan LD, Yigit G, Canan H, Pawlik B, Nürnberg G, Wakeling EL, Quarrell OW, Baessmann I, Lanktree MB, Yilmaz M, Hegele RA, Amr K, May KW, Nürnberg P, Topaloglu AK, Hammerschmidt M, Wollnik B. Li Y, et al. Among authors: amr k. Am J Hum Genet. 2010 Dec 10;87(6):757-67. doi: 10.1016/j.ajhg.2010.10.003. Am J Hum Genet. 2010. PMID: 21129728 Free PMC article.

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