These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
815 related articles for article (PubMed ID: 25081545)
1. Numerous BAF complex genes are mutated in Coffin-Siris syndrome. Miyake N; Tsurusaki Y; Matsumoto N Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):257-61. PubMed ID: 25081545 [TBL] [Abstract][Full Text] [Related]
2. Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Santen GW; Aten E; Vulto-van Silfhout AT; Pottinger C; van Bon BW; van Minderhout IJ; Snowdowne R; van der Lans CA; Boogaard M; Linssen MM; Vijfhuizen L; van der Wielen MJ; Vollebregt MJ; ; Breuning MH; Kriek M; van Haeringen A; den Dunnen JT; Hoischen A; Clayton-Smith J; de Vries BB; Hennekam RC; van Belzen MJ Hum Mutat; 2013 Nov; 34(11):1519-28. PubMed ID: 23929686 [TBL] [Abstract][Full Text] [Related]
3. Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. Kosho T; Okamoto N; Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):262-75. PubMed ID: 25168959 [TBL] [Abstract][Full Text] [Related]
4. Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing. Kosho T; Miyake N; Carey JC Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):241-51. PubMed ID: 25169878 [TBL] [Abstract][Full Text] [Related]
5. Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature. Kosho T; Okamoto N; Ohashi H; Tsurusaki Y; Imai Y; Hibi-Ko Y; Kawame H; Homma T; Tanabe S; Kato M; Hiraki Y; Yamagata T; Yano S; Sakazume S; Ishii T; Nagai T; Ohta T; Niikawa N; Mizuno S; Kaname T; Naritomi K; Narumi Y; Wakui K; Fukushima Y; Miyatake S; Mizuguchi T; Saitsu H; Miyake N; Matsumoto N Am J Med Genet A; 2013 Jun; 161A(6):1221-37. PubMed ID: 23637025 [TBL] [Abstract][Full Text] [Related]
11. 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 Brain Dev; 2015 May; 37(5):527-36. PubMed ID: 25249037 [TBL] [Abstract][Full Text] [Related]
12. BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes. Aref-Eshghi E; Bend EG; Hood RL; Schenkel LC; Carere DA; Chakrabarti R; Nagamani SCS; Cheung SW; Campeau PM; Prasad C; Siu VM; Brady L; Tarnopolsky MA; Callen DJ; Innes AM; White SM; Meschino WS; Shuen AY; Paré G; Bulman DE; Ainsworth PJ; Lin H; Rodenhiser DI; Hennekam RC; Boycott KM; Schwartz CE; Sadikovic B Nat Commun; 2018 Nov; 9(1):4885. PubMed ID: 30459321 [TBL] [Abstract][Full Text] [Related]
13. Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. Zweier C; Rittinger O; Bader I; Berland S; Cole T; Degenhardt F; Di Donato N; Graul-Neumann L; Hoyer J; Lynch SA; Vlasak I; Wieczorek D Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):290-301. PubMed ID: 25099957 [TBL] [Abstract][Full Text] [Related]
14. Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion. Pascolini G; Valiante M; Bottillo I; Laino L; Fleischer N; Ferraris A; Grammatico P Eur J Med Genet; 2020 Mar; 63(3):103739. PubMed ID: 31421289 [TBL] [Abstract][Full Text] [Related]
15. Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis. Gossai N; Biegel JA; Messiaen L; Berry SA; Moertel CL Am J Med Genet A; 2015 Dec; 167A(12):3186-91. PubMed ID: 26364901 [TBL] [Abstract][Full Text] [Related]
16. Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea. Lee Y; Choi Y; Seo GH; Kim GH; Keum C; Kim YM; Do HS; Choi J; Choi IH; Yoo HW; Lee BH BMC Med Genomics; 2021 Oct; 14(1):254. PubMed ID: 34706719 [TBL] [Abstract][Full Text] [Related]
17. SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type. Errichiello E; Mustafa N; Vetro A; Notarangelo LD; de Jonge H; Rinaldi B; Vergani D; Giglio SR; Morbini P; Zuffardi O J Pathol; 2017 Sep; 243(1):9-15. PubMed ID: 28608987 [TBL] [Abstract][Full Text] [Related]
18. Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. Bramswig NC; Caluseriu O; Lüdecke HJ; Bolduc FV; Noel NC; Wieland T; Surowy HM; Christen HJ; Engels H; Strom TM; Wieczorek D Hum Genet; 2017 Mar; 136(3):297-305. PubMed ID: 28124119 [TBL] [Abstract][Full Text] [Related]
19. Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases. Rimoldi M; Rinaldi B; Villa R; Cerasani J; Beltrami B; Iascone M; Silipigni R; Boito S; Gangi S; Colombo L; Porro M; Cesaretti C; Bedeschi MF Am J Med Genet A; 2023 Feb; 191(2):605-611. PubMed ID: 36416235 [TBL] [Abstract][Full Text] [Related]
20. The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes. Gripp KW; Baker L; Telegrafi A; Monaghan KG Am J Med Genet A; 2016 Jul; 170(7):1754-62. PubMed ID: 27112773 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]