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Items: 1 to 20 of 117

1.

Chromodomain proteins in development: lessons from CHARGE syndrome.

Layman WS, Hurd EA, Martin DM.

Clin Genet. 2010 Jul;78(1):11-20. doi: 10.1111/j.1399-0004.2010.01446.x. Epub 2010 Apr 8. Review.

2.

Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome.

Layman WS, McEwen DP, Beyer LA, Lalani SR, Fernbach SD, Oh E, Swaroop A, Hegg CC, Raphael Y, Martens JR, Martin DM.

Hum Mol Genet. 2009 Jun 1;18(11):1909-23. doi: 10.1093/hmg/ddp112. Epub 2009 Mar 11.

3.

Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues.

Hurd EA, Capers PL, Blauwkamp MN, Adams ME, Raphael Y, Poucher HK, Martin DM.

Mamm Genome. 2007 Feb;18(2):94-104. Epub 2007 Feb 28.

PMID:
17334657
4.

Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome.

Layman WS, Hurd EA, Martin DM.

Hum Mol Genet. 2011 Aug 15;20(16):3138-50. doi: 10.1093/hmg/ddr216. Epub 2011 May 19.

5.

Defects in vestibular sensory epithelia and innervation in mice with loss of Chd7 function: implications for human CHARGE syndrome.

Adams ME, Hurd EA, Beyer LA, Swiderski DL, Raphael Y, Martin DM.

J Comp Neurol. 2007 Oct 10;504(5):519-32.

PMID:
17701983
6.

Knockdown of fbxl10/kdm2bb rescues chd7 morphant phenotype in a zebrafish model of CHARGE syndrome.

Balow SA, Pierce LX, Zentner GE, Conrad PA, Davis S, Sabaawy HE, McDermott BM Jr, Scacheri PC.

Dev Biol. 2013 Oct 1;382(1):57-69. doi: 10.1016/j.ydbio.2013.07.026. Epub 2013 Aug 3.

7.

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW.

Am J Hum Genet. 2006 Feb;78(2):303-14. Epub 2005 Dec 29.

8.

CHD7 cooperates with PBAF to control multipotent neural crest formation.

Bajpai R, Chen DA, Rada-Iglesias A, Zhang J, Xiong Y, Helms J, Chang CP, Zhao Y, Swigut T, Wysocka J.

Nature. 2010 Feb 18;463(7283):958-62. doi: 10.1038/nature08733. Epub 2010 Feb 3.

9.

Inappropriate p53 activation during development induces features of CHARGE syndrome.

Van Nostrand JL, Brady CA, Jung H, Fuentes DR, Kozak MM, Johnson TM, Lin CY, Lin CJ, Swiderski DL, Vogel H, Bernstein JA, Attié-Bitach T, Chang CP, Wysocka J, Martin DM, Attardi LD.

Nature. 2014 Oct 9;514(7521):228-32. doi: 10.1038/nature13585. Epub 2014 Aug 3.

10.

CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndrome.

Micucci JA, Layman WS, Hurd EA, Sperry ED, Frank SF, Durham MA, Swiderski DL, Skidmore JM, Scacheri PC, Raphael Y, Martin DM.

Hum Mol Genet. 2014 Jan 15;23(2):434-48. doi: 10.1093/hmg/ddt435. Epub 2013 Sep 10.

11.

Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.

Bosman EA, Penn AC, Ambrose JC, Kettleborough R, Stemple DL, Steel KP.

Hum Mol Genet. 2005 Nov 15;14(22):3463-76. Epub 2005 Oct 5.

12.

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.

Zentner GE, Layman WS, Martin DM, Scacheri PC.

Am J Med Genet A. 2010 Mar;152A(3):674-86. doi: 10.1002/ajmg.a.33323. Review.

13.

The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Kim HG, Layman LC.

Mol Cell Endocrinol. 2011 Oct 22;346(1-2):74-83. doi: 10.1016/j.mce.2011.07.013. Epub 2011 Aug 2. Review.

14.

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.

Schulz Y, Wehner P, Opitz L, Salinas-Riester G, Bongers EM, van Ravenswaaij-Arts CM, Wincent J, Schoumans J, Kohlhase J, Borchers A, Pauli S.

Hum Genet. 2014 Aug;133(8):997-1009. doi: 10.1007/s00439-014-1444-2. Epub 2014 Apr 13.

PMID:
24728844
15.

The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development.

Sperry ED, Hurd EA, Durham MA, Reamer EN, Stein AB, Martin DM.

Dev Dyn. 2014 Sep;243(9):1055-66. doi: 10.1002/dvdy.24156. Epub 2014 Jul 10.

16.

Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns.

Schnetz MP, Bartels CF, Shastri K, Balasubramanian D, Zentner GE, Balaji R, Zhang X, Song L, Wang Z, Laframboise T, Crawford GE, Scacheri PC.

Genome Res. 2009 Apr;19(4):590-601. doi: 10.1101/gr.086983.108. Epub 2009 Feb 27.

17.

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clément-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruaud C, Audollent S, Esculpavit C, Goudefroye G, Ozilou C, Fredouille C, Joye N, Morichon-Delvallez N, Dumez Y, Weissenbach J, Munnich A, Amiel J, Encha-Razavi F, Lyonnet S, Vekemans M, Attié-Bitach T.

J Med Genet. 2006 Mar;43(3):211-217. Epub 2005 Sep 16.

18.

Mutation update on the CHD7 gene involved in CHARGE syndrome.

Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM, Hoefsloot LH.

Hum Mutat. 2012 Aug;33(8):1149-60. doi: 10.1002/humu.22086. Epub 2012 Apr 16. Review.

PMID:
22461308
19.

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G, Tekin M, Ozata M, Bick DP, Sherins RJ, Walker SL, Shi Y, Gusella JF, Layman LC.

Am J Hum Genet. 2008 Oct;83(4):511-9. doi: 10.1016/j.ajhg.2008.09.005. Epub 2008 Oct 2.

20.

Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders.

Bouazoune K, Kingston RE.

Proc Natl Acad Sci U S A. 2012 Nov 20;109(47):19238-43. doi: 10.1073/pnas.1213825109. Epub 2012 Nov 7.

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