Effat L - Search Results

1

Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype.

Abdel-Salam GM, Flores-Sarnat L, El-Ruby MO, Parboosingh J, Bridge P, Eid MM, El-Badry TH, Effat L, Curatolo P, Temtamy SA. Abdel-Salam GM, et al. Among authors: effat l. Am J Med Genet A. 2011 Jan;155A(1):207-14. doi: 10.1002/ajmg.a.33777. Am J Med Genet A. 2011. PMID: 21204234

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

A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.

Abdel-Salam GM, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, Effat LK, El-Badry TH, El-Kamah GY, El-Darouti M, Matsumoto N. Abdel-Salam GM, et al. Am J Med Genet A. 2011 Nov;155A(11):2885-96. doi: 10.1002/ajmg.a.34299. Epub 2011 Oct 11. Am J Med Genet A. 2011. PMID: 21990275

4

Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome.

Abdel-Salam GM, Abdel-Hamid MS, Saleem SN, Ahmed MK, Issa M, Effat LK, Kayed HF, Zaki MS, Gaber KR. Abdel-Salam GM, et al. Am J Med Genet A. 2012 Aug;158A(8):1823-31. doi: 10.1002/ajmg.a.35480. Epub 2012 Jul 11. Am J Med Genet A. 2012. PMID: 22786707

5

Bartsocas-Papas syndrome with variable expressivity in an Egyptian family.

Zaki MS, Kamel AK, Effat LK, El-Ruby MO. Zaki MS, et al. Among authors: effat lk. Genet Couns. 2012;23(2):269-79. Genet Couns. 2012. PMID: 22876587

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. Among authors: effat l. 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

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP, Livingston JH, Lourenco CM, Marques W Jr, Oades P, Peterson P, Rasmussen M, Roubertie A, Schmidt JL, Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt J, Wermenbol V, Whitehouse WP, Soler D, Olivieri I, Orcesi S, Aglan MS, Zaki MS, Abdel-Salam GM, Vanderver A, Kisand K, Rozenberg F, Lebon P, Crow YJ. Rice GI, et al. Among authors: effat l. Lancet Neurol. 2013 Dec;12(12):1159-69. doi: 10.1016/S1474-4422(13)70258-8. Epub 2013 Oct 30. Lancet Neurol. 2013. PMID: 24183309 Free PMC article.

8

CO-OCCURRENCE OF PRIMARY MICROCEPHALY CAUSED BY A NOVEL HOMOZYGOUS ASPM MUTATION ALONG WITH X-LINKED ICHTHYOSIS IN THE SAME PATIENT.

Abdel-Hamid MS, Ismail MF, Darwish HA, Effat LK, Zaki MS, Abdel-Salam GM. Abdel-Hamid MS, et al. Among authors: effat lk. Genet Couns. 2016;27(1):25-33. Genet Couns. 2016. PMID: 27192889

9

Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.

Abdel-Hamid MS, Ismail MF, Darwish HA, Effat LK, Zaki MS, Abdel-Salam GM. Abdel-Hamid MS, et al. Among authors: effat lk. Am J Med Genet A. 2016 Aug;170(8):2133-40. doi: 10.1002/ajmg.a.37724. Epub 2016 Jun 2. Am J Med Genet A. 2016. PMID: 27250695

10

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. Among authors: effat l. 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

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