Publications

Export 22 results:
Sort by: Author Title Type [ Year (Desc)]
Submitted
, , , Submitted. Abstract
n/a
2022
1, L. A. S., C. P. 1, R. Aanicai1, S. S. 1, T. B. 1, Anett Kaune 1, A. U. 1, T. C. L. S. Spohr1, N. V. 1, S. O. 1, et al., "An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients", European Journal of Human Genetics 30(9), vol. 30(9), issue 30(9), pp. 1-7, 2022. an_integrated_multiomic_approach_as_an_excellent_t.pdf
application/pdf iconan_integrated_multiomic_approach_as_an_excellent_t.pdf
Nataliya Di Donato, 1, 2 Renzo Guerrini, 3 Charles J. Billington Jr, 4 A. James Barkovich, 1 Philine Dinkel, 5 Elena Freri, 7 Michael Heide, 6, 9 Elliot S. Gershon, 8, 10 Tracy S. Gertler, 11 Robert J. Hopkin, et al., "Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders", Brain, vol. 145, issue 145, pp. 3274–3287, 2022.
application/pdf iconmonoallelic_and_biallelic_reln_mutations.pdf
2020
Elsea1, S. H., A. Solyom2, K. Martin1, P. Harmatz3, J. Mitchell4, C. Lampe5, C. Grant6, L. Selim7, N. O. Mungan8, N. Guelbert9, et al., "ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy", Human mutation, vol. 2020;41, issue 2020;41, pp. 1469–1487, 2020.
application/pdf iconhumanmutation-2020-elsea-asah1pathogenicvariantsassociatedwithacidceramidasedeficiencyfarberdiseaseand1.pdf
2019
Iman G. Mahmoud, 1, 2 Mohamed A. Elmonem, 1 Nour M. Elkhateeb, 1 Walaa Elnaggar, 1 Ahmed Sobhi, 1 Marian Y.Girgis, 1 Mona Kamel, 1 Yara Shaheen, 1 Mona Samaha, 1 Areef Ramadan, et al., "Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations", Clinical genetics, vol. DOI: 10.1111/cge.13492, issue DOI: 10.1111/cge.13492, pp. 1-3 , 2019.
application/pdf iconniemann-pick_c_in_egypt.pdf
1*, C. C., M. H. 1, M. - L. L. 1, N. M. 2, L. A. S. 3, 5 Amal M.Alhashem 4, T. B. - O. 6, I. G. M. 3, N. M. A. M. 3, M. A. - M. 6, et al., "Genetic,clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome", Orphanet journal of rare diseases, vol. 14, issue 209, pp. 1-10, 2019.
application/pdf iconcozma_et_al-2019-orphanet_journal_of_rare_diseases.pdf
2017
●, P. M. 1, 25 Reza Maroofian2, 5 6 Asbjørg Stray-Pedersen3, 4, D. Musaev7, M. S. Zaki8, I. M. G. 9, L. Selim9, A. E. 9 ●, 10 Shalini N. Jhangiani6, Z. C. H. Akdemir6, et al., "Biallelic variants in KIF14 cause intellectual disability with microcephaly", European Journal of Human Genetics, vol. open access, 2017. biallelic_variant_in_kis14_cause_intellectuel_disabilty_and_microcephaly.pdf
2016
SELIM1, L., N. A. hamid2, E. Salama3, A. ra Elbadawy4, I. G. an din5, M. A. B. D. d ELMONEIM6, and A. S. r im7, "Cardiovascular Abnormalities in Egyptian Children with Mucopolysaccharidoses", Journal of Clinical and Diagnostic Research, vol. Vol-10(11), issue Nov 2016, pp. SC05-SC08, 2016. 17-_cardiovascular_abnormalities_in_egyptian_mps_patients.pdf
Scott1–3, E. M., A. Halees4, Y. Itan5, E. G. Spencer1–3, Y. He1–3, M. A. Azab1–3, S. B. Gabriel6, 8 Aziz Belkadi7, 8 Bertrand Boisson5, 7, 8 Laurent Abel5, 7, et al., "Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery", Nature Genetics, vol. online 18 July 2016; doi:10.1038/ng.3592, pp. 1-6, 2016.
Fayza A Hassan1, 2, 2 Fatma El-Mougy1, 2 Sahar A Sharaf1, 2 Iman Mandour1, 2 Marian F Morgan1, 3 Laila A Selim2, 3 Sawsan A Hassan2, 3 Fadia Salem2, 3 Azza Oraby2, 3 Marian Y Girgis2, et al., "Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study", journal of medical screening, issue DOI: 10.1177/0969141315618229, pp. 0(0) 1–6, 2016.
Mohamed A. Elmonem1, 2, 9, 3 Iman G. Mahmoud2, 2 Dina A. Mehaney1, 2 Sahar A. Sharaf 1, 4 Sawsan A. Hassan2, 3 Azza Orabi2, 4 Fadia Salem2, 3 Marian Y. Girgis2, 3 Amira El-Badawy2, M. Abdelwahab5, et al., "Lysosomal Storage Disorders in Egyptian Children", Indian journal of pediatrics, vol. DOI 10.1007/s12098-015-2014-x, 2016.
a, M. S. Z., L. S. b, H. T. E. L. B. a, M. Y.Isaa, I. M. b, S. I. a, M. G. b, A. A. S. c, J. G. G. d, and M. S. A. H. e, "Molybdenum cofactor and isolated sulphite oxidase deficiencies:clinical and molecular spectrum among Egyptian patients", European Journal of Pediatric Neurology (EJPN), pp. 1-9, 2016. molybdenum_cofactor_and_sod.pdf
Maha S. Zaki, MD, P. D., M. D. Gifty Bhat, M. D. Tipu Sultan, P. D. Mahmoud Issa, MD, Hea-Jin Jung, PhD, P. D. Esra Dikoglu, MD, M. D. Laila Selim, M. D. Iman G.Mahmoud, Mohamed S. Abdel-Hamid, MD, P. D. Ghada Abdel-Salam, MD, et al., "PYCR2 Mutations Cause a Lethal Syndrome of Microcephaly and Failure to Thrive", ANNALS OF NEUROLOGY , vol. 80, pp. 59-70, 2016. pycr2_mutations.pdf
2015
Akizu, N., "Biallelic mutations in SNX14 cause asyndromic form ofcerebellar atrophy and lysosome-autophagosome dysfunction", Nature Genetics, vol. 47, pp. 528-534, 2015. biallelic_mutations_in_snx14_cause_a_syndromic_form_of_cerebellar_atrophy_and_lysosome-autophagosome_dysfunction.pdf
Simon A. Jones, MBChB, M. R. C. P. C. H. 1, P. D. 2 Vassili Valayannopoulos, MD, M. D. 3 Eugene Schneider, P. D. 3 Stephen Eckert, M. D. 4 Maryam Banikazemi, M. D. 5 Martin Bialer, M. D. 6 Stephen Cederbaum, M. D. 7 Alicia Chan, M. D. 8 Anil Dhawan, MBBS, M. D. 9 Maja Di Rocco, et al., "Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants", Genetics in medicine, pp. DOI: 10.1038/gim.2015.108, 2015. 2015jonesgenetics_med_lald_infants.pdf
2014
MDa, I. M. G., Marwa Mahmoud MSc b, M. R. M. S. b, M. G. MDa, N. W. MDc, Ameera El Badawy MSc a, L. S. MDa, S. H. MDd, and * f Alice K. Abdel Aleem MDb, e, "Clinical, Neuroimaging, and Genetic Characteristics of Megalencephalic Leukoencephalopathy With Subcortical Cysts in Egyptian Patients", Pediatric Neurology , vol. 50, pp. 140-148, 2014. pnu-vdk.pdf
Gaia Novarino, 1*†, 1* Ali G. Fenstermaker, 3* Maha S. Zaki, 2 Matan Hofree, 1 Jennifer L. Silhavy, 1 Andrew D. Heiberg, 1 Mostafa Abdellateef, 1 Basak Rosti, 1 Eric Scott, 4 Lobna Mansour, et al., "Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders", 31 JANUARY 2014 VOL 343 SCIENCE, vol. 343, pp. 506-511 + suppl, 2014. novarino-science-506-11.pdf
a, Z. M. S., S. L. b, M. L. b, M. I. G. b, F. A. G. c, G. S. B. d, and G. J. G. c, "Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis", Clinical genetics, pp. doi: 10.1111/cge.12516, 2014. fah2_novel_mutations_2.pdf
b Laila A. Selim a, c Sawsan Abdel-Hady Hassan b, Fadia Salem a, c, Azza Orabi a, b, d Fayza A. Hassan b, d Fatma El-Mougy b, I. G. - E. M. b, A. E. - B. b, Marian Y. Girgis a, b, ⁎ Mohamed A. Elmonem b, d, et al., "Selective screening for inborn errors of metabolism by tandem mass spectrometry in Egyptian children: A 5 year report", Clinical Biochemistry , vol. 47, pp. 823-828, 2014. selective_screening_in_clinical_biochemistry.pdf
2013
moteleb a, L. A. S., D. A. M. b, F. A. H. H. b, S. A. H. H. a, I. G. E. din c, R. S. b, and E. B. d, "Merosin deficient congenital muscular dystrophy: Clinical, neuroimaging and immunohistochemical study of 8 Egyptian pediatric patients", Journal of Genetic Engineering and Biotechnology 11, 61–68, vol. 11, pp. 61-68, 2013. merosin_deficient_congenital_muscular_dystrophy_published_version.pdf
2012
a*, L. S., D. M. b, F. H. b, R. S. b, R. Z. b, S. H. c, I. G. E. d, and E. Bertini, "Mitochondrial DNA depletion syndrome presenting with ataxia and external ophthalmoplegia: Case report", The Egyptian Journal of Medical Human Genetics 351–357, vol. 13, pp. 351-357, 2012. mitochondrial_depletion_published_version_-_copy.pdf
2009
MD, L. A. M. S., S. A. H. H. MD, F. Fadia Ali salem MD, F. A. H. H. MD, Fatma El Mogy MD, S. A. A. MD, I. M. MD, M. F. MD, A. E. O. amin MD, I. gamal el din MD, et al., "Screening for Organic Acid Disorders among Egyptian Children with Clinically Suspected Neurometabolic Disorders", Research Journal of Medicine and Medical Sciences , vol. 4, issue 2, pp. 369-385, 2009.
Tourism