Das CHARGE-Syndrom ist eine autosomal dominante Erkrankung, die durch Mutationen im CHD7- und eventuell auch im SEMA3E-Gen hervorgerufen werden kann. Der klassische Symptomenkomplex enthält Kolobom, Herzfehler, Choanalatresie, retardiertes Wachstum und Entwicklung, hypoplastische Genitalien, Ohr-Anomalien mit Schwerhörigkeit.
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Tellier AL et al. (1996) Increased paternal age in CHARGE association. |
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Hurst JA et al. (1989) Unknown syndrome: congenital heart disease, choanal stenosis, short stature, developmental delay, and dysmorphic facial features in a brother and sister. |
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Ivarsson SA et al. (1988) CHARGE-association with pulmonary stenosis. |
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Oley CA et al. (1988) A reappraisal of the CHARGE association. |
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Cyran SE et al. (1987) Spectrum of congenital heart disease in CHARGE association. |
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Metlay LA et al. (1987) Familial CHARGE syndrome: clinical report with autopsy findings. |
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Davenport SL et al. (1986) CHARGE syndrome. Part I. External ear anomalies. |
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Goldson E et al. (1986) The CHARGE association. How well can they do? |
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Pagon RA et al. (1981) Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. |
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Koletzko B et al. (1984) Congenital anomalies in patients with choanal atresia: CHARGE-association. |
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North KN et al. (1995) CHARGE association in a child with de novo inverted duplication (14)(q22-->q24.3). |
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Wyse RK et al. (1993) Congenital heart disease in CHARGE association. |
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Van Meter TD et al. (1996) Oculo-auriculo-vertebral spectrum and the CHARGE association: clinical evidence for a common pathogenetic mechanism. |
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Harris J et al. (1997) Epidemiology of choanal atresia with special reference to the CHARGE association. |
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Martin DM et al. (2001) CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11). |
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Tellier AL et al. (1998) CHARGE syndrome: report of 47 cases and review. |
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Devriendt K et al. (1998) Deletion in chromosome region 22q11 in a child with CHARGE association. |
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Källén K et al. (1999) CHARGE Association in newborns: a registry-based study. |
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Wheeler PG et al. (2000) Hypogonadism and CHARGE association. |
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Issekutz KA et al. (2005) An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. |
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None (2005) Updated diagnostic criteria for CHARGE syndrome: a proposal. |
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Vervloed MP et al. (2006) CHARGE syndrome: relations between behavioral characteristics and medical conditions. |
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Writzl K et al. () Immunological abnormalities in CHARGE syndrome. |
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Blake KD et al. (2008) Cranial nerve manifestations in CHARGE syndrome. |
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Wincent J et al. (2008) CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. |
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Alazami AM et al. (2008) Expanding the "E" in CHARGE. |
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Jongmans MC et al. (2009) CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. |
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Gage PJ et al. (2015) Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome. |
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Davenport SL et al. (1986) The spectrum of clinical features in CHARGE syndrome. |
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Tellier AL et al. (2000) Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome. |
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Lalani SR et al. (2004) SEMA3E mutation in a patient with CHARGE syndrome. |
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Vissers LE et al. (2004) Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. |
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Jongmans MC et al. (2006) CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. |
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Sanlaville D et al. (2006) Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. |
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Bosman EA et al. (2005) Multiple mutations in mouse Chd7 provide models for CHARGE syndrome. |
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Lalani SR et al. (2006) Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. |
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Udaka T et al. (2007) An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome. |
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Delahaye A et al. (2007) Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability. |
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Van de Laar I et al. (2007) Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype. |
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Jongmans MC et al. (2008) Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. |
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Bergman JE et al. () Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome. |
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Kim HG et al. (2008) Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. |
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Layman WS et al. (2009) Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome. |
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Meinecke P et al. (1989) Limb anomalies in the CHARGE association. |
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Blake KD et al. (1990) Who's in CHARGE? Multidisciplinary management of patients with CHARGE association. |
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Lin AE et al. (1990) Central nervous system malformations in the CHARGE association. |
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Bialer MG et al. (1990) The CHARGE association. |
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Hurst JA et al. (1991) Balanced t(6;8)(6p8p;6q8q) and the CHARGE association. |
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Kushnick T et al. (1992) Agonadism in a 46,XY patient with CHARGE association. |
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Abruzzo MA et al. (1977) A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis. |
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None (1979) Choanal atresia and associated multiple anomalies. |
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Hittner HM et al. () Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation--a syndrome. |
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Van Nostrand JL et al. (2014) Inappropriate p53 activation during development induces features of CHARGE syndrome. |
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Pauli S et al. (2012) CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin. |
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Bajpai R et al. (2010) CHD7 cooperates with PBAF to control multipotent neural crest formation. |
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Vuorela PE et al. (2008) A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features. |
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Orphanet article Orphanet ID 138 |
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OMIM.ORG article Omim 214800 |
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Wikipedia Artikel Wikipedia DE (CHARGE-Syndrom) |