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Similar articles for PubMed (Select 23637025)

1.

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. doi: 10.1002/ajmg.a.35933. Epub 2013 May 1. Review.

PMID:
23637025
2.

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

Kosho T, Okamoto N; Coffin-Siris Syndrome International Collaborators.

Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):262-75. doi: 10.1002/ajmg.c.31407. Epub 2014 Aug 28.

PMID:
25168959
3.

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; Coffin-Siris consortium, 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. doi: 10.1002/humu.22394. Epub 2013 Aug 30.

PMID:
23929686
4.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillén-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PÖ, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S, Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B.

Hum Mol Genet. 2013 Dec 20;22(25):5121-35. doi: 10.1093/hmg/ddt366. Epub 2013 Aug 1.

5.

Coffin-Siris syndrome is a SWI/SNF complex disorder.

Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, Fukuda M, Isidor B, Perrier J, Aggarwal S, Dalal AB, Al-Kindy A, Liebelt J, Mowat D, Nakashima M, Saitsu H, Miyake N, Matsumoto N.

Clin Genet. 2014 Jun;85(6):548-54. doi: 10.1111/cge.12225. Epub 2013 Jul 23.

PMID:
23815551
6.

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. doi: 10.1002/ajmg.c.31415. Epub 2014 Aug 28.

PMID:
25169878
7.

Phenotype and genotype in Nicolaides-Baraitser syndrome.

Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium.

Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):302-14. doi: 10.1002/ajmg.c.31409. Epub 2014 Aug 28.

PMID:
25169058
8.

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N.

Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219.

PMID:
22426308
9.

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. doi: 10.1002/ajmg.c.31406. Epub 2014 Jul 31.

PMID:
25081545
10.

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. doi: 10.1016/j.braindev.2014.08.009. Epub 2014 Sep 22.

PMID:
25249037
11.

Coffin-Siris Syndrome.

Schrier Vergano SA, Santen G, Wieczorek D, Wollnik B, Matsumoto N, Deardorff MA.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2013 Apr 4 [updated 2013 Jul 11].

12.

Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.

Tzeng M, du Souich C, Cheung HW, Boerkoel CF.

Am J Med Genet A. 2014 Jul;164A(7):1808-14. doi: 10.1002/ajmg.a.36533. Epub 2014 Apr 3.

PMID:
24700502
13.

SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.

Santen GW, Kriek M, van Attikum H.

Epigenetics. 2012 Nov;7(11):1219-24. doi: 10.4161/epi.22299. Epub 2012 Sep 25. Review.

14.

Frequent co-inactivation of the SWI/SNF subunits SMARCB1, SMARCA2 and PBRM1 in malignant rhabdoid tumours.

Rao Q, Xia QY, Wang ZY, Li L, Shen Q, Shi SS, Wang X, Liu B, Wang YF, Shi QL, Ma HH, Lu ZF, He Y, Zhang RS, Yu B, Zhou XJ.

Histopathology. 2015 Jul;67(1):121-9. doi: 10.1111/his.12632. Epub 2015 Feb 5.

PMID:
25496315
15.

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

Bramswig NC, Lüdecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz D, Caliebe A, Chrzanowska KH, Czeschik JC, Endele S, Graf E, Guillén-Navarro E, Kiper PÖ, López-González V, Parenti I, Pozojevic J, Utine GE, Wieland T, Kaiser FJ, Wollnik B, Strom TM, Wieczorek D.

Hum Genet. 2015 Jun;134(6):553-68. doi: 10.1007/s00439-015-1535-8. Epub 2015 Feb 28.

PMID:
25724810
16.

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M.

Nat Genet. 2012 Mar 18;44(4):379-80. doi: 10.1038/ng.2217.

PMID:
22426309
17.

Convergent structural alterations define SWItch/Sucrose NonFermentable (SWI/SNF) chromatin remodeler as a central tumor suppressive complex in pancreatic cancer.

Shain AH, Giacomini CP, Matsukuma K, Karikari CA, Bashyam MD, Hidalgo M, Maitra A, Pollack JR.

Proc Natl Acad Sci U S A. 2012 Jan 31;109(5):E252-9. doi: 10.1073/pnas.1114817109. Epub 2012 Jan 10.

18.

The ARID1B phenotype: what we have learned so far.

Santen GW, Clayton-Smith J; ARID1B-CSS consortium.

Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):276-89. doi: 10.1002/ajmg.c.31414. Epub 2014 Aug 28.

PMID:
25169814
19.

SWI/SNF chromatin remodeling complexes and cancer.

Biegel JA, Busse TM, Weissman BE.

Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):350-66. doi: 10.1002/ajmg.c.31410. Epub 2014 Aug 28.

PMID:
25169151
20.

Residual complexes containing SMARCA2 (BRM) underlie the oncogenic drive of SMARCA4 (BRG1) mutation.

Wilson BG, Helming KC, Wang X, Kim Y, Vazquez F, Jagani Z, Hahn WC, Roberts CW.

Mol Cell Biol. 2014 Mar;34(6):1136-44. doi: 10.1128/MCB.01372-13. Epub 2014 Jan 13.

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