Published in Int J Audiol on February 01, 2007
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res (2008) 3.76
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Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest (2006) 2.27
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet (2005) 2.06
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Am J Hum Genet (2009) 1.71
Ototoxicity caused by aminoglycosides. BMJ (2007) 1.67
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Development of a genotyping microarray for Usher syndrome. J Med Genet (2006) 1.63
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Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet (2011) 1.43
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. Hum Mol Genet (2007) 1.36
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. Am J Hum Genet (2010) 1.34
Prevalence of mitochondrial 1555A-->G mutation in European children. N Engl J Med (2009) 1.32
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. Hum Reprod (2006) 1.25
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De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure. J Am Soc Nephrol (2005) 1.15
Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1). Cardiovasc Res (2005) 1.11
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing. Orphanet J Rare Dis (2013) 1.11
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FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. Hum Mol Genet (2010) 1.08
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. Hum Mutat (2009) 1.07
Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population. Genome Biol (2007) 1.04
Infantile hyperinsulinism associated with enteropathy, deafness and renal tubulopathy: clinical manifestations of a syndrome caused by a contiguous gene deletion located on chromosome 11p. J Pediatr Endocrinol Metab (2004) 1.04
Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination. Neurogenetics (2006) 1.02
Macular dystrophy associated with the A3243G mitochondrial DNA mutation. Distinct retinal and associated features, disease variability, and characterization of asymptomatic family members. Arch Ophthalmol (2008) 1.02
Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder. J Inherit Metab Dis (2008) 1.01
A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes. Am J Med Genet B Neuropsychiatr Genet (2006) 0.99
Attentional demands of continuously monitoring orientation using vestibular information. Neuropsychologia (2002) 0.92
Patterns of presentations of dizziness in primary care--a cross-sectional cluster analysis study. J Psychosom Res (2006) 0.92
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Hearing in 44-45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study. BMJ Open (2012) 0.89
Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II. Mol Genet Metab (2006) 0.88
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Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. BMC Med Genet (2013) 0.85
Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss. Retina (2011) 0.85
Late postnatal onset of hearing loss due to GJB2 mutations. Int J Pediatr Otorhinolaryngol (2006) 0.85
Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. Am J Hum Genet (2010) 0.84
Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations. J Pediatr Urol (2007) 0.84
Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes. Invest Ophthalmol Vis Sci (2008) 0.83
The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss. Int J Audiol (2012) 0.83
Kantaputra mesomelic dysplasia: a second reported family. Am J Med Genet A (2004) 0.82
Peripheral vestibular dysfunction is prevalent in older adults experiencing multiple non-syncopal falls versus age-matched non-fallers: a pilot study. Age Ageing (2013) 0.81
Mutation analyses of Uroplakin II in children with renal tract malformations. Nephrol Dial Transplant (2006) 0.81
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Mutation of SALL2 causes recessive ocular coloboma in humans and mice. Hum Mol Genet (2014) 0.81
CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited. Ophthalmology (2011) 0.80
Investigation of the child with permanent hearing impairment. Arch Dis Child Educ Pract Ed (2010) 0.79
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. Hum Mol Genet (2015) 0.78
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Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene. Mov Disord (2007) 0.77
Hearing and balance disorders: a new approach. Clin Med (2007) 0.77
Event-related potentials in pediatric cochlear implant patients. Ear Hear (2004) 0.77
Short report: methodological considerations in recording mismatch negativity in cochlear implant patients. Cochlear Implants Int (2004) 0.76
Benign paroxysmal positional vertigo. Int J Otolaryngol (2011) 0.75
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