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Items: 1 to 20 of 192

1.

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.

Batsukh T, Pieper L, Koszucka AM, von Velsen N, Hoyer-Fender S, Elbracht M, Bergman JE, Hoefsloot LH, Pauli S.

Hum Mol Genet. 2010 Jul 15;19(14):2858-66. doi: 10.1093/hmg/ddq189. Epub 2010 May 7.

PMID:
20453063
2.

Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex.

Batsukh T, Schulz Y, Wolf S, Rabe TI, Oellerich T, Urlaub H, Schaefer IM, Pauli S.

PLoS One. 2012;7(12):e52640. doi: 10.1371/journal.pone.0052640. Epub 2012 Dec 21.

3.

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
4.

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.

5.

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
6.

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
7.

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
8.

CHARGE syndrome: an update.

Sanlaville D, Verloes A.

Eur J Hum Genet. 2007 Apr;15(4):389-99. Epub 2007 Feb 14. Review.

9.

New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene.

Holak HM, Kohlhase J, Holak SA, Holak NH.

Ophthalmic Genet. 2008 Jun;29(2):79-84. doi: 10.1080/13816810801918391.

PMID:
18484313
10.

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
11.

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.

12.

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.

13.

Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype.

Wincent J, Schulze A, Schoumans J.

Eur J Med Genet. 2009 Jul-Aug;52(4):271-2. doi: 10.1016/j.ejmg.2009.02.005. Epub 2009 Feb 25.

PMID:
19248844
14.

An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome.

Udaka T, Okamoto N, Aramaki M, Torii C, Kosaki R, Hosokai N, Hayakawa T, Takahata N, Takahashi T, Kosaki K.

Am J Med Genet A. 2007 Apr 1;143A(7):721-6.

PMID:
17334995
15.

Gene symbol: CHD7. Disease: CHARGE syndrome.

Ellison J.

Hum Genet. 2008 Oct;124(3):323. No abstract available.

PMID:
18846688
16.

CHARGE and Kabuki syndromes: a phenotypic and molecular link.

Schulz Y, Freese L, Mänz J, Zoll B, Völter C, Brockmann K, Bögershausen N, Becker J, Wollnik B, Pauli S.

Hum Mol Genet. 2014 Aug 15;23(16):4396-405. doi: 10.1093/hmg/ddu156. Epub 2014 Apr 4.

PMID:
24705355
17.

Radial aplasia in CHARGE syndrome: a new association.

Wright EM, O'Connor R, Kerr BA.

Eur J Med Genet. 2009 Jul-Aug;52(4):239-41. doi: 10.1016/j.ejmg.2009.03.017. Epub 2009 Apr 16.

PMID:
19375527
18.

Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome.

Asakura Y, Toyota Y, Muroya K, Kurosawa K, Fujita K, Aida N, Kawame H, Kosaki K, Adachi M.

J Clin Endocrinol Metab. 2008 Mar;93(3):920-4. Epub 2007 Dec 18.

PMID:
18089695
19.

Speculations on the pathogenesis of CHARGE syndrome.

Williams MS.

Am J Med Genet A. 2005 Mar 15;133A(3):318-25.

PMID:
15637730
20.

The cardiac phenotype in patients with a CHD7 mutation.

Corsten-Janssen N, Kerstjens-Frederikse WS, du Marchie Sarvaas GJ, Baardman ME, Bakker MK, Bergman JE, Hove HD, Heimdal KR, Rustad CF, Hennekam RC, Hofstra RM, Hoefsloot LH, Van Ravenswaaij-Arts CM, Kapusta L.

Circ Cardiovasc Genet. 2013 Jun;6(3):248-54.

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