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Items: 1 to 20 of 161

1.

Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.

Wessels K, Bohnhorst B, Luhmer I, Morlot S, Bohring A, Jonasson J, Epplen JT, Gadzicki D, Glaser S, Göhring G, Mälzer M, Hein A, Arslan-Kirchner M, Stuhrmann M, Schmidtke J, Pabst B.

Eur J Med Genet. 2010 Sep-Oct;53(5):280-5. doi: 10.1016/j.ejmg.2010.07.002. Epub 2010 Jul 30.

PMID:
20624498
2.

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
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.

CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome.

Song MH, Cho HJ, Lee HK, Kwon TJ, Lee WS, Oh S, Bok J, Choi JY, Kim UK.

PLoS One. 2011;6(9):e24511. doi: 10.1371/journal.pone.0024511. Epub 2011 Sep 13.

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.

Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome.

Michelucci A, Ghirri P, Iacopetti P, Conidi ME, Fogli A, Baldinotti F, Lunardi S, Forli F, Moscuzza F, Berrettini S, Boldrini A, Simi P, Pellegrini S.

Int J Pediatr Otorhinolaryngol. 2010 Dec;74(12):1441-4. doi: 10.1016/j.ijporl.2010.09.006. Epub 2010 Oct 12.

PMID:
20943277
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.

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

Marcos S, Sarfati J, Leroy C, Fouveaut C, Parent P, Metz C, Wolczynski S, Gérard M, Bieth E, Kurtz F, Verier-Mine O, Perrin L, Archambeaud F, Cabrol S, Rodien P, Hove H, Prescott T, Lacombe D, Christin-Maitre S, Touraine P, Hieronimus S, Dewailly D, Young J, Pugeat M, Hardelin JP, Dodé C.

J Clin Endocrinol Metab. 2014 Oct;99(10):E2138-43. doi: 10.1210/jc.2014-2110. Epub 2014 Jul 31. Erratum in: J Clin Endocrinol Metab. 2015 Jan;100(1):317.

PMID:
25077900
9.

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
10.

Genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome.

Cho HJ, Song MH, Choi SY, Kim J, Lee J, Kim UK, Bok J, Choi JY.

Gene. 2013 Apr 1;517(2):164-8. doi: 10.1016/j.gene.2013.01.010. Epub 2013 Jan 17.

PMID:
23333604
11.

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
12.

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.

13.

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
14.

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
15.

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
16.

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.

17.

Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome.

Lee B, Duz MB, Sagong B, Koparir A, Lee KY, Choi JY, Seven M, Yuksel A, Kim UK, Ozen M.

Gene. 2016 Feb 1;576(2 Pt 2):776-81. doi: 10.1016/j.gene.2015.11.006. Epub 2015 Nov 10.

PMID:
26551301
18.

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
19.

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.

Bergman JE, de Wijs I, Jongmans MC, Admiraal RJ, Hoefsloot LH, van Ravenswaaij-Arts CM.

Eur J Med Genet. 2008 Sep-Oct;51(5):417-25. doi: 10.1016/j.ejmg.2008.03.003. Epub 2008 Apr 4.

PMID:
18472328
20.

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

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