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Items: 1 to 20 of 140

1.

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
2.

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
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.

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.

5.

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
6.

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
7.

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
8.

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
9.

Novel frameshift mutation in the CHD7 gene associated with CHARGE syndrome with preaxial polydactyly.

Surányi A, Maróti Z, Tálosi G, Kalmár T, Kaiser L, Bereczki C, Pál A, Keresztúri A.

Clin Dysmorphol. 2016 Jul;25(3):98-100. doi: 10.1097/MCD.0000000000000120. No abstract available.

PMID:
26901670
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.

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
12.

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
13.

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
14.

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
15.

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
16.

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.

17.

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
18.

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.

19.

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
20.

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.

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