Effat LK - Search Results

1

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: effat lk. Acta Neurol Scand. 2003 Jun;107(6):400-4. doi: 10.1034/j.1600-0404.2003.00072.x. Acta Neurol Scand. 2003. PMID: 12757471

2

Haplotypes and mutations of the PAH locus in Egyptian families with PKU.

Effat L, Kuzmin A, Kasem N, Meguid NA, Kotb S, Eisensmith RC, Temtamy SA, Rushdi S, Woo S, el-Awady M. Effat L, et al. Eur J Hum Genet. 1999 Feb-Mar;7(2):259-62. doi: 10.1038/sj.ejhg.5200270. Eur J Hum Genet. 1999. PMID: 10196714

3

Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies.

Effat LK, El-Harouni AA, Amr KS, El-Minisi TI, Abdel Meguid N, El-Awady M. Effat LK, et al. Dis Markers. 2000;16(3-4):125-9. doi: 10.1155/2000/437372. Dis Markers. 2000. PMID: 11381192 Free PMC article.

4

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. World J Urol. 2001 Aug;19(4):263-6. doi: 10.1007/s003450100217. World J Urol. 2001. PMID: 11550787

5

Screening for six Mediterranean mutations in 90 Egyptian patients with phenylketonuria.

Effat LK, Essawi ML, Abd El Hamid MS, Hawari N, Gad YZ. Effat LK, et al. Bratisl Lek Listy. 2008;109(1):17-9. Bratisl Lek Listy. 2008. PMID: 18447256

6

Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.

Abdel-Salam GM, Abdel-Hamid MS, Hassan NA, Issa MY, Effat L, Ismail S, Aglan MS, Zaki MS. Abdel-Salam GM, et al. Am J Med Genet A. 2013 Aug;161A(8):1875-81. doi: 10.1002/ajmg.a.36009. Epub 2013 Jun 21. Am J Med Genet A. 2013. PMID: 23794361

7

C242T polymorphism of NADPH oxidase p22phox gene reduces the risk of coronary artery disease in a random sample of Egyptian population.

Hashad IM, Abdel Rahman MF, Abdel-Maksoud SM, Amr KS, Effat LK, Shaban GM, Gad MZ. Hashad IM, et al. Among authors: effat lk. Mol Biol Rep. 2014;41(4):2281-6. doi: 10.1007/s11033-014-3081-1. Epub 2014 Jan 11. Mol Biol Rep. 2014. PMID: 24415302

8

Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.

Abdel-Salam GM, Abdel-Hamid MS, Ismail SI, Hosny H, Omar T, Effat L, Aglan MS, Temtamy SA, Zaki MS. Abdel-Salam GM, et al. Metab Brain Dis. 2016 Oct;31(5):1171-9. doi: 10.1007/s11011-016-9861-7. Epub 2016 Jul 7. Metab Brain Dis. 2016. PMID: 27389245

9

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.

Abdel-Salam GMH, Sayed ISM, Afifi HH, Abdel-Ghafar SF, Abouzaid MR, Ismail SI, Aglan MS, Issa MY, El-Bassyouni HT, El-Kamah G, Effat LK, Eid M, Zaki MS, Temtamy SA, Abdel-Hamid MS. Abdel-Salam GMH, et al. Among authors: effat lk. Am J Med Genet A. 2020 Jun;182(6):1407-1420. doi: 10.1002/ajmg.a.61585. Epub 2020 Apr 8. Am J Med Genet A. 2020. PMID: 32267100

10

Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.

Abdel-Hamid MS, Abdel-Ghafar SF, Ismail SR, Desouky LM, Issa MY, Effat LK, Zaki MS. Abdel-Hamid MS, et al. Among authors: effat lk. Clin Genet. 2020 Nov;98(5):445-456. doi: 10.1111/cge.13825. Clin Genet. 2020. PMID: 32740904 Review.

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