Publications by authors named "Laila Effat"

15Publications

Aicardi-Goutières syndrome: unusual neuro-radiological manifestations.

Metab Brain Dis 2017 06 23;32(3):679-683. Epub 2017 Mar 23.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1007/s11011-017-9993-4DOI Listing
June 2017

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

Metab Brain Dis 2016 10 7;31(5):1171-9. Epub 2016 Jul 7.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Tahrir street, Dokki, Cairo, Egypt.

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http://dx.doi.org/10.1007/s11011-016-9861-7DOI Listing
October 2016

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

Am J Med Genet A 2016 08 2;170(8):2133-40. Epub 2016 Jun 2.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.37724DOI Listing
August 2016

Relationship between Biochemical Bone Markers and Bone Mineral Density in Patients with Phenylketonuria under Restricted Diet.

Iran J Pediatr 2014 Feb 31;24(1):23-8. Epub 2013 Dec 31.

Department of Molecular Genetics, National Research Centre, Cairo University, Cairo, Egypt.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4359600PMC
February 2014

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

Mol Biol Rep 2014 11;41(4):2281-6. Epub 2014 Jan 11.

Clinical Biochemistry Unit, Faculty of Pharmacy and Biotechnology, The German University in Cairo, New Cairo City, Al Tagamoa Al Khames, Cairo, 11835, Egypt.

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http://dx.doi.org/10.1007/s11033-014-3081-1DOI Listing
December 2014

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

Lancet Neurol 2013 Dec 30;12(12):1159-69. Epub 2013 Oct 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1016/S1474-4422(13)70258-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349523PMC
December 2013

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

Am J Med Genet A 2013 Aug 21;161A(8):1875-81. Epub 2013 Jun 21.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.36009DOI Listing
August 2013

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

Am J Med Genet A 2012 Aug 11;158A(8):1823-31. Epub 2012 Jul 11.

Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.35480DOI Listing
August 2012

A long-term study of bone mineral density in patients with phenylketonuria under diet therapy.

Arch Med Sci 2011 Jun 11;7(3):493-500. Epub 2011 Jul 11.

Department of Pediatric, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.5114/aoms.2011.23417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3258737PMC
June 2011

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

Am J Med Genet A 2011 Nov 11;155A(11):2885-96. Epub 2011 Oct 11.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.34299DOI Listing
November 2011

Preparation and evaluation of a novel therapeutic dairy-based drink for phenylketonuria.

N Am J Med Sci 2010 Feb;2(2):66-70

Food Science and Human Nutrition Department, College of Agriculture and Veterinary Medicine, Qassim University, Buraidah, Suadi Arabia.

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http://dx.doi.org/10.4297/najms.2010.266DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3354437PMC
February 2010