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International Journal of Pediatric Otorhinolaryngology
Volume 74, Issue 7
, Pages 719-722
, July 2010
CHARGE: An association or a syndrome?
References
- . Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J. Med. Genet. 2006;43(3):211–217
- . Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat. Genet. 2004;36(9):955–957
- . Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype–phenotype correlation. Am. J. Hum. Genet. 2006;78(2):303–314
- . CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J. Med. Genet. 2006;43(4):306–314
- . CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. Clin. Genet. 2008;74(1):31–38
- . Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J. Pediatr. 2006;148(3):410–414
- . SEMA3E mutation in a patient with CHARGE syndrome. J. Med. Genet. 2004;41(7):e94
- . Choanal atresia and associated multiple anomalies. J. Pediatr. 1979;95(3):395–398
- . Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation—a syndrome. J. Pediatr. Ophthalmol. Strabismus. 1979;16(2):122–128
- . Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J. Pediatr. 1981;99(2):223–227
- . CHARGE syndrome. Orphanet. J. Rare Dis. 2006;1:34
- . Updated diagnostic criteria for CHARGE syndrome: a proposal. Am. J. Med. Genet. A. 2005;133A(3):306–308
- . Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome. Am. J. Med. Genet. 2001;99(2):124–127
- . The spectrum of clinical features in CHARGE syndrome. Clin. Genet. 1986;29(4):298–310
- . Familial CHARGE syndrome: clinical report with autopsy findings. Am. J. Med. Genet. 1987;26(3):577–581
- . A reappraisal of the CHARGE association. J. Med. Genet. 1988;25(3):147–156
- . Increased paternal age in CHARGE association. Clin. Genet. 1996;50(6):548–550
- . Balanced t(6, 8) (6p8p, 6q8q) and the CHARGE association. J. Med. Genet. 1991;28(1):54–55
- . Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins. J. Med. Genet. 2006;43(3):280–284
- . Interstitial deletion 8q11.2–q13 with congenital anomalies of CHARGE association. Am. J. Med. Genet. A. 2005;133A(3):326–330
- . An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome. Am. J. Med. Genet. A. 2007;143(7):721–726
- . Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability. Clin. Genet. 2007;72(2):112–121
- . Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. Am. J. Med. Genet. A. 2008;146A(1):43–50
PII: S0165-5876(10)00114-X
doi: 10.1016/j.ijporl.2010.03.019
© 2010 Elsevier Ireland Ltd. All rights reserved.
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International Journal of Pediatric Otorhinolaryngology
Volume 74, Issue 7
, Pages 719-722
, July 2010
