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Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Fatima A, Hoeber J, Schuster J, Koshimizu E, Maya-Gonzalez C, Keren B, Mignot C, Akram T, Ali Z, Miyatake S, Tanigawa J, Koike T, Kato M, Murakami Y, Abdullah U, Ali MA, Fadoul R, Laan L, Castillejo-López C, Liik M, Jin Z, Birnir B, Matsumoto N, Baig SM, Klar J, Dahl N. Fatima A, et al. Among authors: castillejo lopez c. Am J Hum Genet. 2021 Apr 1;108(4):739-748. doi: 10.1016/j.ajhg.2021.02.015. Epub 2021 Mar 11. Am J Hum Genet. 2021. PMID: 33711248 Free PMC article.
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Fatima A, Hoeber J, Schuster J, Koshimizu E, Maya-Gonzalez C, Keren B, Mignot C, Akram T, Ali Z, Miyatake S, Tanigawa J, Koike T, Kato M, Murakami Y, Abdullah U, Ali MA, Fadoul R, Laan L, Castillejo-López C, Liik M, Jin Z, Birnir B, Matsumoto N, Baig SM, Klar J, Dahl N. Fatima A, et al. Among authors: castillejo lopez c. Am J Hum Genet. 2022 Mar 3;109(3):542-546. doi: 10.1016/j.ajhg.2022.02.007. Am J Hum Genet. 2022. PMID: 35245475 Free PMC article. No abstract available.
Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein.
Delgado-Vega AM, Dozmorov MG, Quirós MB, Wu YY, Martínez-García B, Kozyrev SV, Frostegård J, Truedsson L, de Ramón E, González-Escribano MF, Ortego-Centeno N, Pons-Estel BA, D'Alfonso S, Sebastiani GD, Witte T, Lauwerys BR, Endreffy E, Kovács L, Vasconcelos C, da Silva BM, Wren JD, Martin J, Castillejo-López C, Alarcón-Riquelme ME. Delgado-Vega AM, et al. Ann Rheum Dis. 2012 Jul;71(7):1219-26. doi: 10.1136/annrheumdis-2011-200987. Ann Rheum Dis. 2012. PMID: 22696686 Free PMC article.
30 results