Agency
National Institute of Health (NIH)
Institute
National Institute on Deafness and Other Communication Disorders (NIDCD)
Type
Research Project (R01)
Project #
5R01DC001160-04
Application #
2126320
Study Section
Mammalian Genetics Study Section (MGN)
Project Start
1992-01-01
Project End
1996-12-31
Budget Start
1995-01-01
Budget End
1996-12-31
Support Year
4
Fiscal Year
1995
Total Cost
Indirect Cost
Name
Michigan State University
Department
Zoology
Type
Schools of Arts and Sciences
DUNS #
193247145
City
East Lansing
State
MI
Country
United States
Zip Code
48824
Carey, M L; Friedman, T B; Asher Jr, J H et al. (1998) Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7. J Med Genet 35:248-50
DeStefano, A L; Cupples, L A; Arnos, K S et al. (1998) Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. Hum Genet 102:499-506
Morell, R; Friedman, T B; Asher Jr, J H et al. (1997) The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1). J Med Genet 34:447-52
Morell, R; Carey, M L; Lalwani, A K et al. (1997) Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1. Hum Hered 47:38-41
Asher Jr, J H; Sommer, A; Morell, R et al. (1996) Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome. Hum Mutat 7:30-5
Asher Jr, J H; Harrison, R W; Morell, R et al. (1996) Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation. Genomics 34:285-98
Winata, S; Arhya, I N; Moeljopawiro, S et al. (1995) Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village. J Med Genet 32:336-43
Friedman, T B; Liang, Y; Weber, J L et al. (1995) A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nat Genet 9:86-91
Farrer, L A; Arnos, K S; Asher Jr, J H et al. (1994) Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes. Am J Hum Genet 55:728-37
Carey, M L; Liang, Y; Barber, T D et al. (1994) Dinucleotide repeat polymorphism at D14S542. Hum Mol Genet 3:1712

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