Similar articles for PMID: 18472328

Year	Number of Results
1971	1
2004	1
2005	7
2006	8
2007	12
2008	12
2009	14
2010	18
2011	11
2012	14
2013	8
2014	11
2015	10
2016	9
2017	8
2018	8
2019	4
2020	6
2021	5
2022	3
2023	1
2024	0

1

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. Bergman JE, et al. Eur J Med Genet. 2008 Sep-Oct;51(5):417-25. doi: 10.1016/j.ejmg.2008.03.003. Epub 2008 Apr 4. Eur J Med Genet. 2008. PMID: 18472328

2

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. Wincent J, et al. Clin Genet. 2008 Jul;74(1):31-8. doi: 10.1111/j.1399-0004.2008.01014.x. Epub 2008 Apr 28. Clin Genet. 2008. PMID: 18445044

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. Jongmans MC, et al. J Med Genet. 2006 Apr;43(4):306-14. doi: 10.1136/jmg.2005.036061. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155193 Free PMC article.

4

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

Wincent J, Schulze A, Schoumans J. Wincent J, et al. Eur J Med Genet. 2009 Jul-Aug;52(4):271-2. doi: 10.1016/j.ejmg.2009.02.005. Epub 2009 Feb 25. Eur J Med Genet. 2009. PMID: 19248844

5

A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features.

Vuorela PE, Penttinen MT, Hietala MH, Laine JO, Huoponen KA, Kääriäinen HA. Vuorela PE, et al. Clin Dysmorphol. 2008 Oct;17(4):249-53. doi: 10.1097/MCD.0b013e328306a704. Clin Dysmorphol. 2008. PMID: 18978652

6

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. Vuorela P, et al. Genet Med. 2007 Oct;9(10):690-4. doi: 10.1097/gim.0b013e318156e68e. Genet Med. 2007. PMID: 18073582 Free article.

7

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. Delahaye A, et al. Clin Genet. 2007 Aug;72(2):112-21. doi: 10.1111/j.1399-0004.2007.00821.x. Clin Genet. 2007. PMID: 17661815

8

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. Sanlaville D, et al. J Med Genet. 2006 Mar;43(3):211-217. doi: 10.1136/jmg.2005.036160. Epub 2005 Sep 16. J Med Genet. 2006. PMID: 16169932 Free PMC article.

9

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. Wessels K, et al. Eur J Med Genet. 2010 Sep-Oct;53(5):280-5. doi: 10.1016/j.ejmg.2010.07.002. Epub 2010 Jul 30. Eur J Med Genet. 2010. PMID: 20624498

10

Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome.

Vatta M, Niu Z, Lupski JR, Putnam P, Spoonamore KG, Fang P, Eng CM, Willis AS. Vatta M, et al. Am J Med Genet A. 2013 Dec;161A(12):3182-6. doi: 10.1002/ajmg.a.36178. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 23956205 Free PMC article.

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