Condition: CHARGE Syndrome


rs1060503188 in CHD7 gene and CHARGE Syndrome PMID 30828794 2019 Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees.

PMID 21931733 2011 CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome.

PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PMID 22461308 2012 Mutation update on the CHD7 gene involved in CHARGE syndrome.

PMID 21158681 2010 Mutations in the CHD7 gene: the experience of a commercial laboratory.

PMID 22462537 2013 Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.

PMID 19021638 2009 CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.

PMID 15300250 2004 Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

PMID 16400610 2006 Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

PMID 20453063 2010 CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.

PMID 21554267 2012 CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.

PMID 16763960 2006 CHD7 gene and non-syndromic cleft lip and palate.

PMID 18074359 2008 Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.

PMID 18445044 2008 CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.

PMID 21407266 2011 Clinical utility gene card for: CHARGE syndrome.

PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

PMID 16155193 2006 CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

PMID 20884005 2011 Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.

PMID 18073582 2007 Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.

PMID 25472840 2014 Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

PMID 25077900 2014 The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

PMID 29255276 2018 CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.

PMID 22033296 2012 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.

PMID 26663670 2016 Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.

PMID 23024289 2012 Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.

PMID 20624498 2011 Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.

PMID 17661815 2007 Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.

PMID 26544072 2015 Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study.

PMID 26538304 2016 Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients.

PMID 27061523 2016 Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome.