Affiliation: Virginia Commonwealth University
- Audiological features of GJB2 (connexin 26) deafnessXue Zhong Liu
Department of Otolaryngology, University of Miami, Miami, Florida 33136, USA
Ear Hear 26:361-9. 2005..The aim of the present study was to characterize audiological profiles in patients with GJB2 deafness..
- Models for the longitudinal genetic analysis of same-age twins: application to HDL cholesterolW E Nance
Department of Human Genetics, Medical College of Virginia of Virginia Commonwealth University, Richmond 23298, USA
Twin Res 1:3-8. 1998..Because they include the effects of age-specific genes, the resulting heritabilities (0.80-0.83) were substantially higher than many previous estimates...
- Relevance of connexin deafness (DFNB1) to human evolutionWalter E Nance
Department of Human Genetics, Virginia Commonwealth University, Richmond, VA, 23298, USA
Am J Hum Genet 74:1081-7. 2004....
- The genetics of deafnessWalter E Nance
Department of Human Genetics, Virginia Commonwealth University, Richmond, Virginia 23298, USA
Ment Retard Dev Disabil Res Rev 9:109-19. 2003....
- Importance of congenital cytomegalovirus infections as a cause for pre-lingual hearing lossWalter E Nance
Department of Human Genetics and Otolaryngology, Virginia Commonwealth University, Richmond, VA 23298, USA
J Clin Virol 35:221-5. 2006..No large population based studies of newborn hearing screening have reported the population frequency of more than one specific form of deafness...
- Relation between choice of partner and high frequency of connexin-26 deafnessW E Nance
Department of Human Genetics, Virginia Commonwealth University, Richmond 23298 0033, USA
Lancet 356:500-1. 2000....
- Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probandsArti Pandya
Department of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond, Virginia 23298, USA
Genet Med 5:295-303. 2003....
- Familial unilateral deafness and delayed endolymphatic hydropsKelley M Dodson
Department of Human Genetics, Virginia Commonwealth University, Richmond, Virginia, USA
Am J Med Genet A 143:1661-5. 2007..In this report, we describe two possible familial instances of delayed DEH. These patients raise the possibility that genetic factors may sometimes be the cause of this unusual syndrome...
- Superficial siderosis: a potentially important cause of genetic as well as non-genetic deafnessKelley M Dodson
Department of Otolaryngology Head and Neck Surgery, Virginia Commonwealth University School of Medicine and Health Sciences, Medical College of Virginia Campus, Richmond, Virginia 23298 0146, USA
Am J Med Genet A 130:22-5. 2004....
- Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafnessXiao Mei Ouyang
Department of Otolaryngology D 48, University of Miami, 1666 NW 12th Avenue, FL 33136, USA
Hum Genet 111:26-30. 2002..None carried any mutations in these exons of USH1C. Our findings show that USH1C mutations can also cause non-syndromic deafness and that some harmonin isoforms are specifically required for inner ear function...
- Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafnessVirginia W Norris
Department of Biology, Gallaudet University, Washington, DC 20002, USA
Ear Hear 27:732-41. 2006..The objective of this study is to document nine additional children with two pathogenic GJB2 mutations who had non penetrance of hearing loss at birth...
- Newborn hearing screening--a silent revolutionCynthia C Morton
Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women s Hospital and Harvard Medical School, Boston, USA
N Engl J Med 354:2151-64. 2006
- Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient populationXiao Mei Ouyang
Department of Otolaryngology D 48, University of Miami, 1666 NW 12th Avenue, Miami, FL 33136, USA
Hum Genet 116:292-9. 2005..The present study suggests that mutations in MYO7A and CDH23 are the two major components of causes for USH1, while PCDH15, USH1C, and SANS are less frequent causes...
- Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter studyIgnacio del Castillo
Unidad de Genetica Molecular, Hospital Ramon y Cajal, Madrid, Spain
Am J Hum Genet 73:1452-8. 2003..These results have important implications for the diagnosis and counseling of families with DFNB1 deafness...
- Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east AsiansDenise Yan
Department of Otolaryngology, University of Miami, 1666 NW 12th Avenue, Miami, FL 33136, USA
Hum Genet 114:44-50. 2003..Similarly, the finding that this mutation appears on a single haplotype provides no support for the possibility that recurrent mutation is the explanation for the high frequency of the allele...
- Prestin, a cochlear motor protein, is defective in non-syndromic hearing lossXue Zhong Liu
Department of Otolaryngology, University of Miami, Miami, FL 33101, USA
Hum Mol Genet 12:1155-62. 2003..Finally, the observation of this mutation only in the Caucasian probands indicated an association with a specific ethnic background. This study thereby reveals an essential function of prestin in human auditory processing...
- Chudley-McCullough syndrome: expanded phenotype and review of the literatureKatherine Oelrich Welch
Department of Biology, Gallaudet University, Washington DC, USA
Am J Med Genet A 119:71-6. 2003..We, therefore, recommend an audiological assessment for all children with hydrocephalus, especially those with obstruction of the foramen of Monro...
- The prevalence of connexin 26 ( GJB2) mutations in the Chinese populationXue Zhong Liu
Department of Otolaryngology D 48, University of Miami, 1666 NW 12th Avenue, Miami, Florida 33136, USA
Hum Genet 111:394-7. 2002..The 235delC mutation, rather than 35delG, is the most common mutation found in the Chinese deaf population. Our data support the view that specific combinations of GJB2 mutation exist in different populations...
- Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22Ingrid Zwaenepoel
Unité de Génétique des Déficits Sensoriels, Centre National de la Recherche Scientifique, Paris Cedex 15, France
Proc Natl Acad Sci U S A 99:6240-5. 2002..We propose that otoancorin ensures the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells...
- A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apartKathleen S Arnos
Department of Biology, Gallaudet University, Washington, DC 20002, USA
Am J Hum Genet 83:200-7. 2008....
- GENETIC STUDIES OF NONSYNDROMIC DEAFNESSWalter Nance; Fiscal Year: 2001..In addition, blood spots from all available students at the School for the Deaf in Ulaanbaatar will be screened for the mitochondrial mutation that is associated with sensitivity to streptomycin. ..
- CREATION OF A DNA REPOSITORY TO IDENTIFY DEAFNESS GENESWalter Nance; Fiscal Year: 2004..abstract_text> ..