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Year Number of Results
2013 1
2014 3
2015 3
2016 3
2018 1
2019 2
2020 2
2022 1
2023 2
2024 0

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15 results

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Page 1
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Di Donato N, Guerrini R, Billington CJ, Barkovich AJ, Dinkel P, Freri E, Heide M, Gershon ES, Gertler TS, Hopkin RJ, Jacob S, Keedy SK, Kooshavar D, Lockhart PJ, Lohmann DR, Mahmoud IG, Parrini E, Schrock E, Severi G, Timms AE, Webster RI, Willis MJH, Zaki MS, Gleeson JG, Leventer RJ, Dobyns WB. Di Donato N, et al. Among authors: mahmoud ig. Brain. 2022 Sep 14;145(9):3274-3287. doi: 10.1093/brain/awac164. Brain. 2022. PMID: 35769015 Free PMC article.
Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations.
Mahmoud IG, Elmonem MA, Elkhateeb NM, Elnaggar W, Sobhi A, Girgis MY, Kamel M, Shaheen Y, Samaha M, Ramadan A, Zaki MS, El-Hawary B, Hassan SA, Khalifa IA, Mossad F, Al-Menabawy NM, Zielke S, Gleeson JG, Rolfs A, Selim LA. Mahmoud IG, et al. Clin Genet. 2019 Apr;95(4):537-539. doi: 10.1111/cge.13492. Epub 2019 Jan 11. Clin Genet. 2019. PMID: 30633340 Review. No abstract available.
Lysosomal Storage Disorders in Egyptian Children.
Elmonem MA, Mahmoud IG, Mehaney DA, Sharaf SA, Hassan SA, Orabi A, Salem F, Girgis MY, El-Badawy A, Abdelwahab M, Salah Z, Soliman NA, Hassan FA, Selim LA. Elmonem MA, et al. Among authors: mahmoud ig. Indian J Pediatr. 2016 Aug;83(8):805-13. doi: 10.1007/s12098-015-2014-x. Epub 2016 Feb 2. Indian J Pediatr. 2016. PMID: 26830282
Biallelic variants in KIF14 cause intellectual disability with microcephaly.
Makrythanasis P, Maroofian R, Stray-Pedersen A, Musaev D, Zaki MS, Mahmoud IG, Selim L, Elbadawy A, Jhangiani SN, Coban Akdemir ZH, Gambin T, Sorte HS, Heiberg A, McEvoy-Venneri J, James KN, Stanley V, Belandres D, Guipponi M, Santoni FA, Ahangari N, Tara F, Doosti M, Iwaszkiewicz J, Zoete V, Backe PH, Hamamy H, Gleeson JG, Lupski JR, Karimiani EG, Antonarakis SE. Makrythanasis P, et al. Among authors: mahmoud ig. Eur J Hum Genet. 2018 Mar;26(3):330-339. doi: 10.1038/s41431-017-0088-9. Epub 2018 Jan 17. Eur J Hum Genet. 2018. PMID: 29343805 Free PMC article.
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
Elsea SH, Solyom A, Martin K, Harmatz P, Mitchell J, Lampe C, Grant C, Selim L, Mungan NO, Guelbert N, Magnusson B, Sundberg E, Puri R, Kapoor S, Arslan N, DiRocco M, Zaki M, Ozen S, Mahmoud IG, Ehlert K, Hahn A, Gokcay G, Torcoletti M, Ferreira CR. Elsea SH, et al. Among authors: mahmoud ig. Hum Mutat. 2020 Sep;41(9):1469-1487. doi: 10.1002/humu.24056. Epub 2020 Jun 24. Hum Mutat. 2020. PMID: 32449975
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.
Cozma C, Hovakimyan M, Iurașcu MI, Makhseed N, Selim LA, Alhashem AM, Ben-Omran T, Mahmoud IG, Al Menabawy NM, Al-Mureikhi M, Martin M, Demuth L, Yüksel Z, Beetz C, Bauer P, Rolfs A. Cozma C, et al. Among authors: mahmoud ig. Orphanet J Rare Dis. 2019 Aug 27;14(1):209. doi: 10.1186/s13023-019-1183-5. Orphanet J Rare Dis. 2019. PMID: 31455396 Free PMC article.
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.
Jones SA, Valayannopoulos V, Schneider E, Eckert S, Banikazemi M, Bialer M, Cederbaum S, Chan A, Dhawan A, Di Rocco M, Domm J, Enns GM, Finegold D, Gargus JJ, Guardamagna O, Hendriksz C, Mahmoud IG, Raiman J, Selim LA, Whitley CB, Zaki O, Quinn AG. Jones SA, et al. Among authors: mahmoud ig. Genet Med. 2016 May;18(5):452-8. doi: 10.1038/gim.2015.108. Epub 2015 Aug 27. Genet Med. 2016. PMID: 26312827 Free PMC article.
15 results