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Page 1
Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.
Elsayed LEO, AlHarbi NA, Alqarni AM, Eltayeb HHE, Mostafa NMM, Abdulrahim MM, Zaid HIB, Alanzi LM, Ababtain SA, Aldulaijan K, Aloyouni SY, Othman MAK, Alkheilewi MA, Binduraihem AM, Alrukban HA, Ahmed HY, AlRadini FA, Alahdal HM, Mushiba AM, Alzaher OA. Elsayed LEO, et al. Hum Genomics. 2024 Sep 4;18(1):95. doi: 10.1186/s40246-024-00662-0. Hum Genomics. 2024. PMID: 39232803 Free PMC article.
Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.
Elsayed LEO, AlHarbi NA, Alqarni AM, Eltayeb HHE, Mostafa NMM, Abdulrahim MM, Zaid HIB, Alanzi LM, Ababtain SA, Aldulaijan K, Aloyouni SY, Othman MAK, Alkheilewi MA, Binduraihem AM, Alrukban HA, Ahmed HY, AlRadini FA, Alahdal HM, Mushiba AM, Alzaher OA. Elsayed LEO, et al. Hum Genomics. 2024 Oct 15;18(1):115. doi: 10.1186/s40246-024-00681-x. Hum Genomics. 2024. PMID: 39407347 Free PMC article. No abstract available.
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.
Flannery KP, Safwat S, Matsell E, Battula N, Hamed AAA, Mohamed IN, Elseed MA, Koko M, Abubaker R, Abozar F, Elsayed LEO, Bhise V, Molday RS, Salih MA, Yahia A, Manzini MC. Flannery KP, et al. Neurogenetics. 2024 Oct;25(4):425-433. doi: 10.1007/s10048-024-00773-9. Epub 2024 Jul 27. Neurogenetics. 2024. PMID: 39066872 Free PMC article.
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.
Flannery KP, Safwat S, Matsell E, Battula N, Hamed AAA, Mohamed IN, Elseed MA, Koko M, Abubaker R, Abozar F, Elsayed LEO, Bhise V, Molday RS, Salih MA, Yahia A, Manzini MC. Flannery KP, et al. medRxiv [Preprint]. 2024 May 15:2024.05.15.24306843. doi: 10.1101/2024.05.15.24306843. medRxiv. 2024. Update in: Neurogenetics. 2024 Oct;25(4):425-433. doi: 10.1007/s10048-024-00773-9. PMID: 38798571 Free PMC article. Updated. Preprint.
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.
Koko M, Elseed MA, Mohammed IN, Hamed AA, Abd Allah ASI, Yahia A, Siddig RA, Altmüller J, Toliat MR, Elmahdi EO, Amin M, Ahmed EA, Eltazi IZM, Elmugadam FA, Abdelgadir WA, Eltaraifee E, Ibrahim MOM, Ali NMH, Malik HM, Babai AM, Bakhit YH, Nürnberg P, Ibrahim ME, Salih MA, Schubert J, Elsayed LEO, Lerche H. Koko M, et al. Eur J Hum Genet. 2024 Oct;32(10):1338-1342. doi: 10.1038/s41431-024-01541-x. Epub 2024 Feb 5. Eur J Hum Genet. 2024. PMID: 38316952 Free PMC article.
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.
Martins S, Yahia A, Costa IPD, Siddig HE, Abubaker R, Koko M, Corral-Juan M, Matilla-Dueñas A, Brice A, Durr A, Leguern E, Ranum LPW, Amorim A, Elsayed LEO, Stevanin G, Sequeiros J. Martins S, et al. Hum Genet. 2023 Dec;142(12):1747-1754. doi: 10.1007/s00439-023-02611-8. Epub 2023 Nov 14. Hum Genet. 2023. PMID: 37957369 Free PMC article.
Intrafamilial and interfamilial heterogeneity of PINK1-associated Parkinson's disease in Sudan.
Bakhit Y, Ibrahim MO, Tesson C, Elhassan AA, Ahmed MA, Alebeed MA, Elrasheed SM, Omar MA, Abubaker R, Eltom K, Shaheen MT, Ibrahim YA, Almak ME, Ali HA, Abugrain AA, Almahal MA, MohamedSharif AA, Tahir MY, Malik SM, Eldirdiri Abdelrahman H, Khidir RJ, Mohamed MT, Abdalla A, Elsayed LEO, Lesage S, Corvol JC, Seidi O, Wüllner U. Bakhit Y, et al. Parkinsonism Relat Disord. 2023 Jun;111:105401. doi: 10.1016/j.parkreldis.2023.105401. Epub 2023 Apr 25. Parkinsonism Relat Disord. 2023. PMID: 37150071
PLA2G6-associated late-onset parkinsonism in a Sudanese family.
Bakhit Y, Tesson C, Ibrahim MO, Eltom K, Eltazi I, Elsayed LEO, Lesage S, Seidi O, Corvol JC, Wüllner U; Sudanese Parkinson's Disease Study Group. Bakhit Y, et al. Ann Clin Transl Neurol. 2023 Jun;10(6):983-989. doi: 10.1002/acn3.51781. Epub 2023 May 3. Ann Clin Transl Neurol. 2023. PMID: 37139542 Free PMC article.
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.
Yahia A, Hamed AAA, Mohamed IN, Elseed MA, Salih MA, El-Sadig SM, Siddig HE, Nasreldien AEM, Abdullah MA, Elzubair M, Omer FY, Bakhiet AM, Abubaker R, Abozar F, Adil R, Emad S, Musallam MA, Eltazi IZM, Omer Z, Malik H, Mohamed MOE, Elhassan AA, Mohamed EOE, Ahmed AKMA, Ahmed EAA, Eltaraifee E, Hussein BK, Abd Allah ASI, Salah L, Nimir M, Tag Elseed OM, Elhassan TEA, Elbashier A, Alfadul ESA, Fadul M, Ali KF, Taha SOMA, Bushara EE, Amin M, Koko M, Ibrahim ME, Ahmed AE, Elsayed LEO, Stevanin G. Yahia A, et al. Eur J Hum Genet. 2024 Oct;32(10):1214-1226. doi: 10.1038/s41431-023-01344-6. Epub 2023 Apr 3. Eur J Hum Genet. 2024. PMID: 37012327 Free PMC article.
20 results