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Phenotype and genotype in Nicolaides-Baraitser syndrome.
Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium. Sousa SB, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):302-14. doi: 10.1002/ajmg.c.31409. Epub 2014 Aug 28. Am J Med Genet C Semin Med Genet. 2014. PMID: 25169058 Review.
Nicolaides-Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomalies syndrome caused by non-truncating mutations in the ATPase region of SMARCA2, which codes for one of the two alternative catalytic subunits of the BAF chroma …
Nicolaides-Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomalies syndrome caused …
Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects.
Hofmeister B, von Stülpnagel C, Betzler C, Mari F, Renieri A, Baldassarri M, Haberlandt E, Jansen K, Schilling S, Weber P, Ahlbory K, Tang S, Berweck S, Kluger G. Hofmeister B, et al. Neuropediatrics. 2021 Apr;52(2):109-122. doi: 10.1055/s-0041-1722878. Epub 2021 Feb 12. Neuropediatrics. 2021. PMID: 33578439 Review.
Nicolaides-Baraitser syndrome (NCBRS), caused by a mutation in the SMARCA2 gene, which goes along with intellectual disability, congenital malformations, especially of face and limbs, and often difficult-to-treat epilepsy, is surveyed focusing on epilepsy and …
Nicolaides-Baraitser syndrome (NCBRS), caused by a mutation in the SMARCA2 gene, which goes along with intellectual dis …
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.
BACKGROUND: Nicolaides-Baraitser syndrome (NCBRS) is a rare disorder characterized by neurodevelopmental delays, seizures, and diverse physical characteristics. ...
BACKGROUND: Nicolaides-Baraitser syndrome (NCBRS) is a rare disorder characterized by neurodevelopmental delays, seizur …
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.
As a clinical subtype of SWI/SNF-related intellectual disability syndromes, Nicolaides-Baraitser syndrome (NCBRS, OMIM601358) has a unique genotype-phenotype. ...
As a clinical subtype of SWI/SNF-related intellectual disability syndromes, Nicolaides-Baraitser syndrome (NCBRS, OMIM6 …
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.
Mari F, Marozza A, Mencarelli MA, Lo Rizzo C, Fallerini C, Dosa L, Di Marco C, Carignani G, Baldassarri M, Cianci P, Vivarelli R, Vascotto M, Grosso S, Rubegni P, Caffarelli C, Pretegiani E, Fimiani M, Garavelli L, Cristofoli F, Vermeesch JR, Nuti R, Dotti MT, Balestri P, Hayek J, Selicorni A, Renieri A. Mari F, et al. Brain Dev. 2015 May;37(5):527-36. doi: 10.1016/j.braindev.2014.08.009. Epub 2014 Sep 22. Brain Dev. 2015. PMID: 25249037
METHODS AND RESULTS: We have clinically evaluated a cohort of 1161 patients with intellectual disability from three different Italian centers. A strong clinical suspicion of either Nicolaides-Baraitser syndrome or Coffin-Siris syndrome was proposed in 11 case …
METHODS AND RESULTS: We have clinically evaluated a cohort of 1161 patients with intellectual disability from three different Italian center …
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
Nicolaides-Baraitser syndrome (NBS) is an infrequently described condition, thus far reported in five cases. ...
Nicolaides-Baraitser syndrome (NBS) is an infrequently described condition, thus far reported in five cases. ...
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.
BACKGROUND: Nicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence variants in SMARCA2 which encodes the catalytic component of the chromatin remodeling BAF complex. ...
BACKGROUND: Nicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence varian …
The genetics of cognitive epigenetics.
Kleefstra T, Schenck A, Kramer JM, van Bokhoven H. Kleefstra T, et al. Neuropharmacology. 2014 May;80:83-94. doi: 10.1016/j.neuropharm.2013.12.025. Epub 2014 Jan 13. Neuropharmacology. 2014. PMID: 24434855 Review.
SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.
Santen GW, Kriek M, van Attikum H. Santen GW, et al. Epigenetics. 2012 Nov;7(11):1219-24. doi: 10.4161/epi.22299. Epub 2012 Sep 25. Epigenetics. 2012. PMID: 23010866 Free PMC article. Review.
Heterozygous germline mutations in components of switch/sucrose nonfermenting (SWI/SNF) chromatin remodeling complexes were recently identified in patients with non-syndromic intellectual disability, Coffin-Siris syndrome and Nicolaides-Baraitser syndrome. Th …
Heterozygous germline mutations in components of switch/sucrose nonfermenting (SWI/SNF) chromatin remodeling complexes were recently identif …
New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy.
Tang S, Hughes E, Lascelles K; EuroEPINOMICS RES myoclonic astatic epilepsy working group; Simpson MA, Pal DK. Tang S, et al. Am J Med Genet A. 2017 Jan;173(1):195-199. doi: 10.1002/ajmg.a.37935. Epub 2016 Sep 26. Am J Med Genet A. 2017. PMID: 27665729 Free PMC article.
We report a de novo SMARCA2 missense mutation discovered on exome sequencing in a patient with myoclonic astatic epilepsy, leading to reassessment and identification of Nicolaides-Baraitser syndrome. This de novo SMARCA2 missense mutation c.3721C>G, p.Gln1 …
We report a de novo SMARCA2 missense mutation discovered on exome sequencing in a patient with myoclonic astatic epilepsy, leading to reasse …
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