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Supernumeraries in Nicolaides-Baraitser Syndrome.
Al-Tamimi B, Abela S, Jeremiah HG, Evans RD. Al-Tamimi B, et al. Int J Paediatr Dent. 2017 Nov;27(6):583-587. doi: 10.1111/ipd.12309. Epub 2017 Jun 21. Int J Paediatr Dent. 2017. PMID: 28635076
CASE REPORT: There are no reported cases in the literature of patients with NCBRS presenting with multiple dental impactions, and to the authors' knowledge, this is the 28th fully documented case of NCBRS and only 75 cases identified as potentially having NCBRS. The clinical feat …
CASE REPORT: There are no reported cases in the literature of patients with NCBRS presenting with multiple dental impactions, and to the aut …
Accelerated epigenetic age and shortened telomere length based on DNA methylation in Nicolaides-Baraitser syndrome.
Shinko Y, Okazaki S, Otsuka I, Horai T, Kim S, Tanifuji T, Hishimoto A. Shinko Y, et al. Mol Genet Genomic Med. 2022 Mar;10(3):e1876. doi: 10.1002/mgg3.1876. Epub 2022 Jan 29. Mol Genet Genomic Med. 2022. PMID: 35092358 Free PMC article.
In this study, we examined changes in biological ages in NCBRS to provide insights into the prognosis and health risks of NCBRS. METHODS: We used a publicly available dataset to examine biological aging in NCBRS using DNAm-based epigenetic ages, such as PhenoAge and GrimAg …
In this study, we examined changes in biological ages in NCBRS to provide insights into the prognosis and health risks of NCBRS. METH …
Ten-year follow-up of Nicolaides-Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2-associated NCBRS.
Zhang X, Chen H, Song Y, Chen Z, Liu X, Rong P, Ma R. Zhang X, et al. Mol Genet Genomic Med. 2022 Sep;10(9):e2009. doi: 10.1002/mgg3.2009. Epub 2022 Jul 10. Mol Genet Genomic Med. 2022. PMID: 35811451 Free PMC article.
CONCLUSIONS: The understanding of NCBRS is lagging, we need to strengthen the screening process of the phenotypic disease with intellectual disability, and perfecting multiple types of diagnostic techniques will help the discovery of the disease; its clinical features are staged …
CONCLUSIONS: The understanding of NCBRS is lagging, we need to strengthen the screening process of the phenotypic disease with intellectual …
Nicolaides-Baraitser syndrome: Delineation of the phenotype.
Sousa SB, Abdul-Rahman OA, Bottani A, Cormier-Daire V, Fryer A, Gillessen-Kaesbach G, Horn D, Josifova D, Kuechler A, Lees M, MacDermot K, Magee A, Morice-Picard F, Rosser E, Sarkar A, Shannon N, Stolte-Dijkstra I, Verloes A, Wakeling E, Wilson L, Hennekam RC. Sousa SB, et al. Am J Med Genet A. 2009 Aug;149A(8):1628-40. doi: 10.1002/ajmg.a.32956. Am J Med Genet A. 2009. PMID: 19606471
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.
Chater-Diehl E, Ejaz R, Cytrynbaum C, Siu MT, Turinsky A, Choufani S, Goodman SJ, Abdul-Rahman O, Bedford M, Dorrani N, Engleman K, Flores-Daboub J, Genevieve D, Mendoza-Londono R, Meschino W, Perrin L, Safina N, Townshend S, Scherer SW, Anagnostou E, Piton A, Deardorff M, Brudno M, Chitayat D, Weksberg R. Chater-Diehl E, et al. BMC Med Genomics. 2019 Jul 9;12(1):105. doi: 10.1186/s12920-019-0555-y. BMC Med Genomics. 2019. PMID: 31288860 Free PMC article.
This is a novel feature of DNAm signatures that could enable phenotypic predictions from genotype data. Our findings also demonstrate that DNAm signatures can be domain-specific, highlighting the precision with which they can reflect genotypic variation....
This is a novel feature of DNAm signatures that could enable phenotypic predictions from genotype data. Our findings also demonstrate …