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Page 1
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG. Schaffer AE, et al. Among authors: megahed h. Nat Genet. 2018 Aug;50(8):1093-1101. doi: 10.1038/s41588-018-0166-0. Epub 2018 Jul 16. Nat Genet. 2018. PMID: 30013181 Free PMC article.
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG. Novarino G, et al. Among authors: megahed h. Science. 2014 Jan 31;343(6170):506-511. doi: 10.1126/science.1247363. Science. 2014. PMID: 24482476 Free PMC article.
Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature.
Mekkawy MK, Kamel AK, Thomas MM, Ashaat EA, Zaki MS, Eid OM, Ismail S, Hammad SA, Megahed H, ElAwady H, Refaat KM, Hussien S, Helmy N, Abd Allah SG, Mohamed AM, El Ruby MO. Mekkawy MK, et al. Among authors: megahed h. Mol Genet Genomic Med. 2021 Feb;9(2):e1546. doi: 10.1002/mgg3.1546. Epub 2020 Nov 20. Mol Genet Genomic Med. 2021. PMID: 33217222 Free PMC article. Review.
Biallelic loss of EMC10 leads to mild to severe intellectual disability.
Kaiyrzhanov R, Rocca C, Suri M, Gulieva S, Zaki MS, Henig NZ, Siquier K, Guliyeva U, Mounir SM, Marom D, Allahverdiyeva A, Megahed H, van Bokhoven H, Cantagrel V, Rad A, Pourkeramti A, Dehghani B, Shao DD, Markus-Bustani K, Sofrin-Drucker E, Orenstein N, Salayev K, Arrigoni F, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: megahed h. Ann Clin Transl Neurol. 2022 Jul;9(7):1080-1089. doi: 10.1002/acn3.51602. Epub 2022 Jun 9. Ann Clin Transl Neurol. 2022. PMID: 35684946 Free PMC article.
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.
Megahed H, Nicouleau M, Barcia G, Medina-Cano D, Siquier-Pernet K, Bole-Feysot C, Parisot M, Masson C, Nitschké P, Rio M, Bahi-Buisson N, Desguerre I, Munnich A, Boddaert N, Colleaux L, Cantagrel V. Megahed H, et al. Orphanet J Rare Dis. 2016 May 4;11(1):57. doi: 10.1186/s13023-016-0436-9. Orphanet J Rare Dis. 2016. PMID: 27146152 Free PMC article.
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.
Duval R, Nicolas G, Willemetz A, Murakami Y, Mikdar M, Vrignaud C, Megahed H, Cartron JP, Masson C, Wehbi S, Koehl B, Hully M, Siquier K, Chemlay N, Rotig A, Lyonnet S, Colin Y, Barcia G, Cantagrel V, Le Van Kim C, Hermine O, Kinoshita T, Peyrard T, Azouzi S. Duval R, et al. Among authors: megahed h. Blood. 2021 Jul 1;137(26):3660-3669. doi: 10.1182/blood.2020009810. Blood. 2021. PMID: 33763700 Free article.
Metabolic encephalopathy in Egyptian children.
Hindawy A, Gouda A, El-Ayyadi A, Megahed H, Bazaraa H. Hindawy A, et al. Among authors: megahed h. Bratisl Lek Listy. 2007;108(2):75-82. Bratisl Lek Listy. 2007. PMID: 17685006
32 results