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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
BACKGROUND: Nicolaides-Baraitser Syndrome(NCBRS) is an extremely rare condition which has been reported in only a few cases. ...
BACKGROUND: Nicolaides-Baraitser Syndrome(NCBRS) is an extremely rare condition which has been reported in only a few c …
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. Due to the scarcity of the number of cases reported and the limitations of diagnosis methods, so far …
As a clinical subtype of SWI/SNF-related intellectual disability syndromes, Nicolaides-Baraitser syndrome (NCBRS, OMIM6 …
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 …
Nicolaides-Baraitser syndrome in a patient with hypertrophic cardiomyopathy and SMARCA2 gene deletion.
Foley R, Duignan S, McArdle L, Betts DR, Green A, McMahon CJ. Foley R, et al. Cardiol Young. 2022 May;32(5):821-823. doi: 10.1017/S1047951121003826. Epub 2021 Sep 15. Cardiol Young. 2022. PMID: 34521483
Nicolaides-Baraitser syndrome is a rare, neuro-developmental disorder caused by heterozygous pathogenic variants in the SMARCA2 gene, involved with chromatin regulation. ...
Nicolaides-Baraitser syndrome is a rare, neuro-developmental disorder caused by heterozygous pathogenic variants in the …
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Cappuccio G, Sayou C, Tanno PL, Tisserant E, Bruel AL, Kennani SE, Sá J, Low KJ, Dias C, Havlovicová M, Hančárová M, Eichler EE, Devillard F, Moutton S, Van-Gils J, Dubourg C, Odent S, Gerard B, Piton A, Yamamoto T, Okamoto N, Firth H, Metcalfe K, Moh A, Chapman KA, Aref-Eshghi E, Kerkhof J, Torella A, Nigro V, Perrin L, Piard J, Le Guyader G, Jouan T, Thauvin-Robinet C, Duffourd Y, George-Abraham JK, Buchanan CA, Williams D, Kini U, Wilson K; Telethon Undiagnosed Diseases Program; Sousa SB, Hennekam RCM, Sadikovic B, Thevenon J, Govin J, Vitobello A, Brunetti-Pierri N. Cappuccio G, et al. Genet Med. 2020 Nov;22(11):1838-1850. doi: 10.1038/s41436-020-0898-y. Epub 2020 Jul 22. Genet Med. 2020. PMID: 32694869 Free article.
PURPOSE: Nontruncating variants in SMARCA2, encoding a catalytic subunit of SWI/SNF chromatin remodeling complex, cause Nicolaides-Baraitser syndrome (NCBRS), a condition with intellectual disability and multiple congenital anomalies. ...
PURPOSE: Nontruncating variants in SMARCA2, encoding a catalytic subunit of SWI/SNF chromatin remodeling complex, cause Nicolaides- …
Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.
Simmers R, Goodwin A, Al Saif H, Couser N. Simmers R, et al. Ophthalmic Genet. 2022 Oct;43(5):699-702. doi: 10.1080/13816810.2022.2089358. Epub 2022 Jun 27. Ophthalmic Genet. 2022. PMID: 35762114
BACKGROUND: Nicolaides-Baraitser syndrome (NCBRS), first described in 1993, is a rare autosomal dominant disease caused by pathogenic variants in the SMARCA2 gene on chromosome 9p24.3. ...
BACKGROUND: Nicolaides-Baraitser syndrome (NCBRS), first described in 1993, is a rare autosomal dominant disease caused …
Nicolaides-Baraitser syndrome: defining a phenotype.
Pretegiani E, Mari F, Renieri A, Penco S, Dotti MT. Pretegiani E, et al. J Neurol. 2016 Aug;263(8):1659-60. doi: 10.1007/s00415-016-8194-0. Epub 2016 Jun 10. J Neurol. 2016. PMID: 27286846 No abstract available.
Anaesthesia and orphan disease: management of a case of Nicolaides-Baraitser syndrome undergoing cleft palate surgery.
Goehring M, Choorapoikayil S, Zacharowski K, Messroghli L. Goehring M, et al. BMC Anesthesiol. 2021 May 26;21(1):162. doi: 10.1186/s12871-021-01380-z. BMC Anesthesiol. 2021. PMID: 34039274 Free PMC article.
BACKGROUND: Nicolaides-Baraitser syndrome (NCBRS) is a rare disease caused by mutations in the SMRCA2 gene, which affects chromatin remodelling and leads to a wide range of symptoms including microcephaly, distinct facial features, recurrent seizures, and sev …
BACKGROUND: Nicolaides-Baraitser syndrome (NCBRS) is a rare disease caused by mutations in the SMRCA2 gene, which affec …
Difficult Airway Management in a Patient With Nicolaides-Baraitser Syndrome Who Had a Small Jaw and Limited Mouth Opening.
Taharabaru S, Sato T, Nishiwaki K. Taharabaru S, et al. Anesth Prog. 2021 Mar 1;68(1):47-49. doi: 10.2344/anpr-67-04-05. Anesth Prog. 2021. PMID: 33827121 Free PMC article.
Nicolaides-Baraitser syndrome (NCBRS) is a rare congenital genetic disorder characterized by distinctive facial features similar to Treacher Collins syndrome (TCS). ...
Nicolaides-Baraitser syndrome (NCBRS) is a rare congenital genetic disorder characterized by distinctive facial feature …
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 …
40 results