12th international CHARGE syndrome conference proceedings. CHARGE association in a child with de novo chromosomal aberration 46,X,der(X)t(X 2)(p22.1 q33) detected by spectral karyotyping. American Journal of Human Genetics, 78, 303–314. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. American Journal of Human Genetics, 83, 511–519. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. International Journal of Pediatric Otorhinolaryngology, 8, 237–242. Further support for the CHARGE association. Choanal atresia and its associated anomalies. CHD7 mutations in patients initially diagnosed with Kallmann syndrome – The clinical overlap with CHARGE syndrome. Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability. Journal of Medical Genetics, 43, 306–314. CHARGE syndrome: The phenotypic spectrum of mutations in the CHD7 gene. Journal of Medical Genetics, 43, 280–284. Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins. Johnson, D., Morrison, N., Grant, L., et al. Balanced t(6 8)(6p8p 6q8q) and the CHARGE association. Journal of Paediatrics and Child Health, 50, 504–511.
Journal of Pediatric Ophthalmology and Strabismus, 16, 122–128. Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation-a syndrome. Epidemiology of Choanal atresia with special reference to the CHARGE association. Choanal atresia and associated multiple anomalies. American Journal of Medical Genetics, 99, 120–123. A recognizable syndrome within CHARGE association: Hall-Hittner syndrome. Clinical and Experimental Immunology, 153, 75–80. Mutations inCHD7 inpatients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome. CHARGE syndrome: A window of opportunity for audiologic intervention. International Journal of Pediatric Otorhinolaryngology, 33, 23–42.Įdwards, B. Clinical manifestations of CHARGE association. Annals of Otology, Rhinology and Laryngology, 107(pt 1), 935–941.Įdwards, B. Otological manifestations of CHARGE association. Clinical Genetics, 72, 112–121.ĭhooge, L., Lemmerling, M., Lagache, M., et al. Familial CHARGE syndrome because of CHD7 mutation: Clinical intra- and interfamilial variability. Molecular Syndromology, 4, 235–245.ĭelahaye, A., Sznajer, Y., Lyonnet, S., et al. More clinical overlap between 22q11.2 deletion syndrome and CHARGE syndrome than often anticipated. American Journal of Medical Genetics, 41, 246–250.Ĭorsten-Janssen, N., Saitta, S.
Apparent CHARGE association and chromosome anomaly: Chance or contiguous gene syndrome. Olfactory evaluation in children: Application to the CHARGE syndrome. International Archives of Otorhinolaryngology, 17, 424–428.Ĭhalouhi, C., Faulcon, P., Le Bihan, C., et al. Cochlear implants in children diagnosed with CHARGE syndrome.
#Charge syndrome meaning update#
CHARGE association: An update and review for the primary pediatrician. Orphanet Journal of Rare Diseases, 1, 34–41.īlake, K. European Journal of Medical Genetics, 51, 417–425.īlake, K. Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome. Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association. American Journal of Medical Genetics, 99, 124–127.Īrrington, C. Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome. Amiel, J., Attié-Bitach, T., Marianowski, R., et al.
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