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Items: 1 to 20 of 36


Intellectual Disability: When the Hypertrichosis Is a Clue.

Pezzani L, Milani D, Tadini G.

J Pediatr Genet. 2015 Sep;4(3):154-8. doi: 10.1055/s-0035-1564442. Epub 2015 Sep 28. Review.


The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up.

Ejaz R, Babul-Hirji R, Chitayat D.

Clin Case Rep. 2016 Feb 28;4(4):351-5. doi: 10.1002/ccr3.425. eCollection 2016 Apr.


Autism-Associated Chromatin Regulator Brg1/SmarcA4 Is Required for Synapse Development and Myocyte Enhancer Factor 2-Mediated Synapse Remodeling.

Zhang Z, Cao M, Chang CW, Wang C, Shi X, Zhan X, Birnbaum SG, Bezprozvanny I, Huber KM, Wu JI.

Mol Cell Biol. 2015 Oct 12;36(1):70-83. doi: 10.1128/MCB.00534-15.


Non-targeted metabolomics of Brg1/Brm double-mutant cardiomyocytes reveals a novel role for SWI/SNF complexes in metabolic homeostasis.

Banerjee R, Bultman SJ, Holley D, Hillhouse C, Bain JR, Newgard CB, Muehlbauer MJ, Willis MS.

Metabolomics. 2015 Oct 1;11(5):1287-1301.


SWI/SNF-Mediated Lineage Determination in Mesenchymal Stem Cells Confers Resistance to Osteoporosis.

Nguyen KH, Xu F, Flowers S, Williams EA, Fritton JC, Moran E.

Stem Cells. 2015 Oct;33(10):3028-38. doi: 10.1002/stem.2064. Epub 2015 Aug 10.


Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders.

López AJ, Wood MA.

Front Behav Neurosci. 2015 Apr 23;9:100. doi: 10.3389/fnbeh.2015.00100. eCollection 2015. Review.


Camk2a-Cre-mediated conditional deletion of chromatin remodeler Brg1 causes perinatal hydrocephalus.

Cao M, Wu JI.

Neurosci Lett. 2015 Jun 15;597:71-6. doi: 10.1016/j.neulet.2015.04.041. Epub 2015 Apr 27.


SWI/SNF complexes are required for full activation of the DNA-damage response.

Smith-Roe SL, Nakamura J, Holley D, Chastain PD 2nd, Rosson GB, Simpson DA, Ridpath JR, Kaufman DG, Kaufmann WK, Bultman SJ.

Oncotarget. 2015 Jan 20;6(2):732-45.


Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH.

Di Gregorio E, Savin E, Biamino E, Belligni EF, Naretto VG, D'Alessandro G, Gai G, Fiocchi F, Calcia A, Mancini C, Giorgio E, Cavalieri S, Talarico F, Pappi P, Gandione M, Grosso M, Asnaghi V, Restagno G, Mandrile G, Botta G, Silengo MC, Grosso E, Ferrero GB, Brusco A.

Mol Cytogenet. 2014 Nov 19;7(1):82. doi: 10.1186/s13039-014-0082-7. eCollection 2014.


NGS-Logistics: federated analysis of NGS sequence variants across multiple locations.

Ardeshirdavani A, Souche E, Dehaspe L, Van Houdt J, Vermeesch JR, Moreau Y.

Genome Med. 2014 Sep 17;6(9):71. doi: 10.1186/s13073-014-0071-9. eCollection 2014.


Vulnerabilities of mutant SWI/SNF complexes in cancer.

Helming KC, Wang X, Roberts CW.

Cancer Cell. 2014 Sep 8;26(3):309-17. doi: 10.1016/j.ccr.2014.07.018. Review.


The role of BAF (mSWI/SNF) complexes in mammalian neural development.

Son EY, Crabtree GR.

Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):333-49. doi: 10.1002/ajmg.c.31416. Epub 2014 Sep 5.


Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states.

Fahrner JA, Bjornsson HT.

Annu Rev Genomics Hum Genet. 2014;15:269-93. doi: 10.1146/annurev-genom-090613-094245. Review.


The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors.

Patel ZH, Kottyan LC, Lazaro S, Williams MS, Ledbetter DH, Tromp H, Rupert A, Kohram M, Wagner M, Husami A, Qian Y, Valencia CA, Zhang K, Hostetter MK, Harley JB, Kaufman KM.

Front Genet. 2014 Feb 12;5:16. doi: 10.3389/fgene.2014.00016. eCollection 2014.


Prioritizing protein complexes implicated in human diseases by network optimization.

Chen Y, Jacquemin T, Zhang S, Jiang R.

BMC Syst Biol. 2014;8 Suppl 1:S2. doi: 10.1186/1752-0509-8-S1-S2. Epub 2014 Jan 24.


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.


Structural genomic variation in childhood epilepsies with complex phenotypes.

Helbig I, Swinkels ME, Aten E, Caliebe A, van 't Slot R, Boor R, von Spiczak S, Muhle H, Jähn JA, van Binsbergen E, van Nieuwenhuizen O, Jansen FE, Braun KP, de Haan GJ, Tommerup N, Stephani U, Hjalgrim H, Poot M, Lindhout D, Brilstra EH, Møller RS, Koeleman BP.

Eur J Hum Genet. 2014 Jul;22(7):896-901. doi: 10.1038/ejhg.2013.262. Epub 2013 Nov 27.


Minireview: Conversing with chromatin: the language of nuclear receptors.

Biddie SC, John S.

Mol Endocrinol. 2014 Jan;28(1):3-15. doi: 10.1210/me.2013-1247. Epub 2013 Jan 1. Review.


SWI/SNF chromatin-remodeling complexes in cardiovascular development and disease.

Bevilacqua A, Willis MS, Bultman SJ.

Cardiovasc Pathol. 2014 Mar-Apr;23(2):85-91. doi: 10.1016/j.carpath.2013.09.003. Epub 2013 Oct 4. Review.


Neuron-specific chromatin remodeling: a missing link in epigenetic mechanisms underlying synaptic plasticity, memory, and intellectual disability disorders.

Vogel-Ciernia A, Wood MA.

Neuropharmacology. 2014 May;80:18-27. doi: 10.1016/j.neuropharm.2013.10.002. Epub 2013 Oct 15. Review.

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