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Items: 1 to 20 of 145

1.

Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome.

Gage PJ, Hurd EA, Martin DM.

Invest Ophthalmol Vis Sci. 2015 Dec;56(13):7923-30. doi: 10.1167/iovs.15-18069.

2.

Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice.

Randall V, McCue K, Roberts C, Kyriakopoulou V, Beddow S, Barrett AN, Vitelli F, Prescott K, Shaw-Smith C, Devriendt K, Bosman E, Steffes G, Steel KP, Simrick S, Basson MA, Illingworth E, Scambler PJ.

J Clin Invest. 2009 Nov;119(11):3301-10. doi: 10.1172/JCI37561. Epub 2009 Oct 12.

3.

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.

4.

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.

5.

Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome.

Whittaker DE, Kasah S, Donovan APA, Ellegood J, Riegman KLH, Volk HA, McGonnell I, Lerch JP, Basson MA.

Am J Med Genet C Semin Med Genet. 2017 Dec;175(4). doi: 10.1002/ajmg.c.31595. Epub 2017 Nov 23.

6.

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.

7.

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.

8.

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.

9.

Clinical and molecular effects of CHD7 in the heart.

Corsten-Janssen N, Scambler PJ.

Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):487-495. doi: 10.1002/ajmg.c.31590. Epub 2017 Oct 31. Review.

PMID:
29088513
10.

Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.

Bélanger C, Bérubé-Simard FA, Leduc E, Bernas G, Campeau PM, Lalani SR, Martin DM, Bielas S, Moccia A, Srivastava A, Silversides DW, Pilon N.

Proc Natl Acad Sci U S A. 2018 Jan 23;115(4):E620-E629. doi: 10.1073/pnas.1715378115. Epub 2018 Jan 8.

11.

Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

Hale CL, Niederriter AN, Green GE, Martin DM.

Am J Med Genet A. 2016 Feb;170A(2):344-354. doi: 10.1002/ajmg.a.37435. Epub 2015 Nov 21.

12.

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.

13.

Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome.

Aramaki M, Kimura T, Udaka T, Kosaki R, Mitsuhashi T, Okada Y, Takahashi T, Kosaki K.

Birth Defects Res A Clin Mol Teratol. 2007 Jan;79(1):50-7.

PMID:
17149726
14.

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.

15.

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.

16.

The role of Pax-6 in eye and nasal development.

Grindley JC, Davidson DR, Hill RE.

Development. 1995 May;121(5):1433-42.

17.

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
18.

Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome.

Yu T, Meiners LC, Danielsen K, Wong MT, Bowler T, Reinberg D, Scambler PJ, van Ravenswaaij-Arts CM, Basson MA.

Elife. 2013 Dec 24;2:e01305. doi: 10.7554/eLife.01305.

19.

Role of Chd7 in zebrafish: a model for CHARGE syndrome.

Patten SA, Jacobs-McDaniels NL, Zaouter C, Drapeau P, Albertson RC, Moldovan F.

PLoS One. 2012;7(2):e31650. doi: 10.1371/journal.pone.0031650. Epub 2012 Feb 20.

20.

Study of smell and reproductive organs in a mouse model for CHARGE syndrome.

Bergman JE, Bosman EA, van Ravenswaaij-Arts CM, Steel KP.

Eur J Hum Genet. 2010 Feb;18(2):171-7. doi: 10.1038/ejhg.2009.158. Epub 2009 Oct 7.

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