Research Topics
Species | Kathleen ArnosSummaryAffiliation: Gallaudet University Country: USA Publications
Research Grants
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Detail Information
Publications
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....
Ethical and social implications of genetic testing for communication disordersKathleen S Arnos
Department of Biology, Gallaudet University, 800 Florida Avenue, NE, Washington, DC 20002, USA
J Commun Disord 41:444-57. 2008....
The implications of genetic testing for deafnessKathleen S Arnos
Genetics Program, Department of Biology, Gallaudet University, Washington, DC, USA
Ear Hear 24:324-31. 2003..Sensitive genetic counseling performed by skilled geneticists is an important part of the genetic testing process to ensure that families and individuals can make informed choices regarding the use of genetic testing...
Genetics content in the graduate audiology curriculum: a survey of academic programsKathleen S Arnos
Genetics Program, Department of Biology, Gallaudet University, Washington, DC 20002, USA
Am J Audiol 13:126-34. 2004..The results of this survey demonstrate the need to incorporate more genetics content into audiology curricula and suggest strategies for assisting audiology faculty with this process...
Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literatureKatherine O Welch
Department of Biology, Gallaudet University, Washington, District of Columbia 20002, USA
Am J Med Genet A 143:1567-73. 2007..The difference in phenotype may be a result of the disruption of different functions of the gap-junction protein by the two mutations, which have an additive effect...
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...
A focus group study of consumer attitudes toward genetic testing and newborn screening for deafnessSarah K Burton
Genetics Program, Department of Biology, Gallaudet University, Washington, DC, USA
Genet Med 8:779-83. 2006....
Education in the genetics of hearing loss: a survey of early hearing detection and intervention programsSarah K Burton
Genetics Program, Department of Biology, Gallaudet University, Washington, DC, USA
Genet Med 8:510-7. 2006..Suggestions for suitable educational formats based on respondent needs and interests are provided...
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...
Attitudes of deaf individuals towards genetic testingPatricia Rubal Taneja
Department of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond, Virginia, USA
Am J Med Genet A 130:17-21. 2004..The results of this study point out important differences that genetic professionals should be aware of when counseling deaf individuals...
Early childhood hearing loss: clinical and molecular genetics. An educational slide set of the American College of Medical GeneticsRaye L Alford
The Bobby R. Alford Department of Otorhinolaryngology and Communicative Sciences, Baylor College of Medicine, Houston, Texas 77030, USA
Genet Med 5:338-41. 2003..The slide set is available through the ACMG (http://www.acmg.net) for $20, plus applicable tax and shipping. It is the first in a series of educational slide sets to be developed by the ACMG...
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....
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....
Consumer motivations for pursuing genetic testing and their preferences for the provision of genetic services for hearing lossKara A Withrow
Department of Human Genetics and Pediatrics, Medical College of Virginia at Virginia Commonwealth University, P O Box 980033, Richmond, VA 23298, USA
J Genet Couns 17:252-60. 2008..Parents preferred that genetic evaluation, including testing, occur either immediately at or a few months after the audiologic diagnosis of hearing loss...
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...
Research Grants
- Summer Program in Genetics for Audiology FacultyKathleen Arnos; Fiscal Year: 2004..This project will be performed by a team of experienced geneticists. educators, evaluators and bioethicists to effectively accomplish the specific aims. ..
- Genetic Deafness in the Alumni of Gallaudet UniversityKathleen Arnos; Fiscal Year: 2007..This is a research opportunity, which is rapidly diminishing, as educational mainstreaming and the use of cochlear implants continue to erode the deaf culture, making matings between deaf partners less likely in the future. ..
