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Items: 1 to 20 of 115

1.

CHARGE syndrome: diagnosis and clinical management in the NICU.

Allen T.

Adv Neonatal Care. 2012 Dec;12(6):336-42; quiz 343-4. doi: 10.1097/ANC.0b013e318276c320.

PMID:
23187639
2.

Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family.

Colin E, Bonneau D, Boussion F, Guichet A, Delorme B, Triau S, Gillard P, Kitzis A, Bilan F.

Prenat Diagn. 2012 Jul;32(7):692-4. doi: 10.1002/pd.3876. Epub 2012 Apr 20.

PMID:
22517486
3.

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
4.

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
5.

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.

6.

Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome.

Dauber A, Hirschhorn JN, Picker J, Maher TA, Milunsky A.

Pediatrics. 2010 Dec;126(6):e1594-8. doi: 10.1542/peds.2010-0164. Epub 2010 Nov 1.

PMID:
21041284
7.

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
8.

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.

Legendre M, Gonzales M, Goudefroye G, Bilan F, Parisot P, Perez MJ, Bonnière M, Bessières B, Martinovic J, Delezoide AL, Jossic F, Fallet-Bianco C, Bucourt M, Tantau J, Loget P, Loeuillet L, Laurent N, Leroy B, Salhi H, Bigi N, Rouleau C, Guimiot F, Quélin C, Bazin A, Alby C, Ichkou A, Gesny R, Kitzis A, Ville Y, Lyonnet S, Razavi F, Gilbert-Dussardier B, Vekemans M, Attié-Bitach T.

J Med Genet. 2012 Nov;49(11):698-707. doi: 10.1136/jmedgenet-2012-100926. Epub 2012 Sep 28.

PMID:
23024289
9.

CHARGE syndrome and CHD7 gene mutation.

de Arriba Muñoz A, Monge Galindo L, López Pisón J, Lafuente Hidalgo M, Pérez Delgado R, Domínguez Cajal M, Rebage V.

Neurologia. 2011 May;26(4):255. doi: 10.1016/j.nrl.2010.10.011. Epub 2010 Dec 31. English, Spanish. No abstract available.

10.

CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.

Pauli S, von Velsen N, Burfeind P, Steckel M, Mänz J, Buchholz A, Borozdin W, Kohlhase J.

Clin Genet. 2012 Mar;81(3):234-9. doi: 10.1111/j.1399-0004.2011.01701.x. Epub 2011 May 27.

PMID:
21554267
11.

Effect of long-term GH treatment in a patient with CHARGE association.

Esposito A, Tufano M, Di Donato I, Rezzuto M, Improda N, Melis D, Salerno M.

Ital J Pediatr. 2014 Jun 2;40:51. doi: 10.1186/1824-7288-40-51.

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.

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.

14.

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
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.

[CHARGE-syndrome: pictorial review of cranial malformations].

Demerath T, Krüger M, Meckel S.

Rofo. 2013 Aug;185(8):683-8. doi: 10.1055/s-0032-1319624. Epub 2013 Aug 1. German. No abstract available.

PMID:
23907824
17.

Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis.

Bilan F, Legendre M, Charraud V, Manière B, Couet D, Gilbert-Dussardier B, Kitzis A.

J Mol Diagn. 2012 Jan;14(1):46-55. doi: 10.1016/j.jmoldx.2011.08.003. Epub 2011 Oct 25.

PMID:
22033296
18.

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
19.

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.

20.

CHARGE: an association or a syndrome?

Pampal A.

Int J Pediatr Otorhinolaryngol. 2010 Jul;74(7):719-22. doi: 10.1016/j.ijporl.2010.03.019. Epub 2010 Apr 3. Review.

PMID:
20363513

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