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Items: 1 to 20 of 136

1.

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.

2.

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.

3.

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM.

J Med Genet. 2006 Apr;43(4):306-14. Epub 2005 Sep 9.

4.

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.

Aramaki M, Udaka T, Kosaki R, Makita Y, Okamoto N, Yoshihashi H, Oki H, Nanao K, Moriyama N, Oku S, Hasegawa T, Takahashi T, Fukushima Y, Kawame H, Kosaki K.

J Pediatr. 2006 Mar;148(3):410-4.

PMID:
16615981
6.

Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome.

Glueckert R, Rask-Andersen H, Sergi C, Schmutzhard J, Mueller B, Beckmann F, Rittinger O, Hoefsloot LH, Schrott-Fischer A, Janecke AR.

Am J Med Genet A. 2010 Mar;152A(3):665-73. doi: 10.1002/ajmg.a.33321.

PMID:
20186814
7.

CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.

Wincent J, Holmberg E, Strömland K, Soller M, Mirzaei L, Djureinovic T, Robinson K, Anderlid B, Schoumans J.

Clin Genet. 2008 Jul;74(1):31-8. doi: 10.1111/j.1399-0004.2008.01014.x. Epub 2008 Apr 28.

PMID:
18445044
8.

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.

9.

CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.

Green GE, Huq FS, Emery SB, Mukherji SK, Martin DM.

Otol Neurotol. 2014 Sep;35(8):1466-70. doi: 10.1097/MAO.0000000000000260.

10.

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.

11.

Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.

Husu E, Hove HD, Farholt S, Bille M, Tranebjærg L, Vogel I, Kreiborg S.

Clin Genet. 2013 Feb;83(2):125-34. doi: 10.1111/j.1399-0004.2012.01884.x. Epub 2012 Apr 30.

PMID:
22462537
12.

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG.

Nat Genet. 2004 Sep;36(9):955-7. Epub 2004 Aug 8.

PMID:
15300250
13.

CHARGE syndrome.

Blake KD, Prasad C.

Orphanet J Rare Dis. 2006 Sep 7;1:34. Review.

14.

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):344-54. doi: 10.1002/ajmg.a.37435. Epub 2015 Nov 21.

15.

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.

PMID:
16207732
16.

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.

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.

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.

Delahaye A, Sznajer Y, Lyonnet S, Elmaleh-Bergès M, Delpierre I, Audollent S, Wiener-Vacher S, Mansbach AL, Amiel J, Baumann C, Bremond-Gignac D, Attié-Bitach T, Verloes A, Sanlaville D.

Clin Genet. 2007 Aug;72(2):112-21.

PMID:
17661815
19.

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.

Vuorela P, Ala-Mello S, Saloranta C, Penttinen M, Pöyhönen M, Huoponen K, Borozdin W, Bausch B, Botzenhart EM, Wilhelm C, Kääriäinen H, Kohlhase J.

Genet Med. 2007 Oct;9(10):690-4.

PMID:
18073582
20.

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM.

J Med Genet. 2011 May;48(5):334-42. doi: 10.1136/jmg.2010.087106. Epub 2011 Mar 4. Review.

PMID:
21378379

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