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Page 1
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Vong KI, Lee S, Au KS, Crowley TB, Capra V, Martino J, Haller M, Araújo C, Machado HR, George R, Gerding B, James KN, Stanley V, Jiang N, Alu K, Meave N, Nidhiry AS, Jiwani F, Tang I, Nisal A, Jhamb I, Patel A, Patel A, McEvoy-Venneri J, Barrows C, Shen C, Ha YJ, Howarth R, Strain M, Ashley-Koch AE, Azam M, Mumtaz S, Bot GM, Finnell RH, Kibar Z, Marwan AI, Melikishvili G, Meltzer HS, Mutchinick OM, Stevenson DA, Mroczkowski HJ, Ostrander B, Schindewolf E, Moldenhauer J, Zackai EH, Emanuel BS, Garcia-Minaur S, Nowakowska BA, Stevenson RE, Zaki MS, Northrup H, McNamara HK, Aldinger KA, Phelps IG, Deng M, Glass IA; Spina Bifida Sequencing Consortium‡; Morrow B, McDonald-McGinn DM, Sanna-Cherchi S, Lamb DJ, Gleeson JG. Vong KI, et al. Among authors: melikishvili g. Science. 2024 May 3;384(6695):584-590. doi: 10.1126/science.adl1624. Epub 2024 May 2. Science. 2024. PMID: 38696583
Effectiveness of add-on acetazolamide in children with drug-resistant CHD2-related epilepsy and in a zebrafish CHD2 model.
Melikishvili G, Striano P, Shojeinia E, Gachechiladze T, Kurua E, Tabatadze N, Melikishvili M, Koniashvili O, Khachiashvili G, Epitashvili N, Rimma G, Belyaev O, Tomenko T, Kharytonov V, Guliyeva U, Esguerra CV, Crawford AD, Dulac O. Melikishvili G, et al. Epilepsia Open. 2024 Oct;9(5):1972-1980. doi: 10.1002/epi4.13034. Epub 2024 Aug 24. Epilepsia Open. 2024. PMID: 39180515 Free PMC article.
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Aughey GN, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Ali Z, Abdulllah U, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Fatima A, Cheema HA, Anjum MN, Morel G, Robin S, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Chatron N, Rossi M, Murtaza BN, Ur Rehman M, Lord J, Giacopuzzi E, Hayat A, Siraj M; SYNAPS Study Group; Badv RS, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Chandler K, Kershaw C, Wright T, Banka S, Gleeson JG, Taylor JC, Efthymiou S, Baig SM, Severino M, Jepson JEC, Houlden H. Aughey GN, et al. Brain. 2024 Dec 18:awae363. doi: 10.1093/brain/awae363. Online ahead of print. Brain. 2024. PMID: 39692517
Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia.
Kaiyrzhanov R, Zharkinbekova N, Guliyeva U, Ganieva M, Tavadyan Z, Gachechiladze T, Salayev K, Guliyeva S, Isayan M, Kekenadze M, Sukhudyan B, Gevorgyan A, Hakobyan A, Ibadova R, Tabatadze N, Kurua E, Shatirishvili T, Yerkhojayeva N, Koneev K, Zhumakhanov D, Mukushev A, Jaxybayeva A, Nauryzbayeva A, Isrofilov M, Badalova S, Zeyniyeva N, Hajiyeva I, Alakbarov L, Zeynalova A, Chelban V, Vandrovcova J, Turchetti V, Murphy D, Efthymiou S, Alavi S, Mohammad R, Tkemaladze T, Shashkin C, Tatishvili NN, Beridze M, Khachatryan SG, Melikishvili G, Hardy J, Maroofian R, Houlden H. Kaiyrzhanov R, et al. Among authors: melikishvili g. Nat Genet. 2024 Dec;56(12):2582-2584. doi: 10.1038/s41588-024-02016-x. Nat Genet. 2024. PMID: 39578646 No abstract available.
Epileptic spasms with terror during sleep in CDKL5 encephalopathy.
Melikishvili G, Sharkov A, Gachechiladze T, Tomenko T, Pivovarova A, Volkov I, Andrade MT, Castellanos A, Bienvenu T, Dulac O, Roisman G, Gataullina S. Melikishvili G, et al. Sleep Adv. 2022 Apr 20;3(1):zpac010. doi: 10.1093/sleepadvances/zpac010. eCollection 2022. Sleep Adv. 2022. PMID: 37193389 Free PMC article.
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr EH, Gowda VK, Srinivasan VM, Bakhtiari S, Kruer MC, Salih MA, Kuechler A, Muller EA, Blocker K, Kuismin O, Park KL, Kochhar A, Brown K, Ramanathan S, Clark RD, Elgizouli M, Melikishvili G, Tabatadze N, Stark Z, Mirzaa GM, Ong J, Grasshoff U, Bevot A, von Wintzingerode L, Jamra RA, Hennig Y, Goldenberg P, Al Alam C, Charif M, Boulouiz R, Bellaoui M, Amrani R, Al Mutairi F, Tamim AM, Abdulwahab F, Alkuraya FS, Khouj EM, Alvi JR, Sultan T, Hashemi N, Karimiani EG, Ashrafzadeh F, Imannezhad S, Efthymiou S, Houlden H, Sticht H, Zweier C. Langhammer F, et al. Among authors: melikishvili g. Genet Med. 2023 Aug;25(8):100885. doi: 10.1016/j.gim.2023.100885. Epub 2023 May 8. Genet Med. 2023. PMID: 37165955 Free article.
De Novo Large Deletion Leading to Fragile X Syndrome.
Jiraanont P, Manor E, Tabatadze N, Zafarullah M, Mendoza G, Melikishvili G, Tassone F. Jiraanont P, et al. Among authors: melikishvili g. Front Genet. 2022 May 11;13:884424. doi: 10.3389/fgene.2022.884424. eCollection 2022. Front Genet. 2022. PMID: 35646065 Free PMC article.
19 results