A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17
Friedman, Thomas B, Liang, Yong, Weber, James L, Hinnant, John T, Barber, Thomas D, Winata, Sunaryana, Arhya, I. Nyoman, Asher, James H
Published in Nature genetics (01.01.1995)
Published in Nature genetics (01.01.1995)
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Journal Article
Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1
Morell, R, Carey, M L, Lalwani, A K, Friedman, T B, Asher, Jr, J H
Published in Human heredity (01.01.1997)
Published in Human heredity (01.01.1997)
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Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium
Farrer, L A, Grundfast, K M, Amos, J, Arnos, K S, Asher, Jr, J H, Beighton, P, Diehl, S R, Fex, J, Foy, C, Friedman, T B
Published in American journal of human genetics (01.05.1992)
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Published in American journal of human genetics (01.05.1992)
Journal Article
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations
DESTEFANO, A. L, CUPPLES, L. A, LALWANI, A. K, MILUNSKY, A, NANCE, W. E, PANDYA, A, RAMESAR, R. S, READ, A. P, TASSABEJHI, M, WILCOX, E. R, FARRER, L. A, ARNOS, K. S, ASHER, J. H, BALDWIN, C. T, BLANTON, S, CAREY, M. L, DA SILVA, E. O, FRIEDMAN, T. B, GREENBERG, J
Published in Human genetics (01.05.1998)
Published in Human genetics (01.05.1998)
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Journal Article
A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family
Morell, R, Friedman, T B, Moeljopawiro, S, Hartono, Soewito, Asher, Jr, J H
Published in Human molecular genetics (01.07.1992)
Published in Human molecular genetics (01.07.1992)
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Mutation at the anophthalmic white locus in Syrian hamsters : haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2
HODGKINSON, C. A, NAKAYAMA, A, HUA LI, SWENSON, L.-B, OPDECAMP, K, ASHER, J. H, ARNHEITER, H, GLASER, T
Published in Human molecular genetics (01.04.1998)
Published in Human molecular genetics (01.04.1998)
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Journal Article
Mutation at the Anophthalmia White Locus in Syrian Hamsters: Hploinsufficiency in the Mitf Gene Mimics Human Waardenburg Syndrome Type 2
Hodgkinson, Colin A., Nakayama, Atsuo, Li, Hua, Swenson, Lori-Beth, Opdecamp, Karin, Asher, James H., Arnheiter, Heinz, Glaser, Tom
Published in Human molecular genetics (01.04.1998)
Published in Human molecular genetics (01.04.1998)
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Journal Article
Locus heterogeneity for waardenburg syndrome is predictive of clinical subtypes
FARRER, L. A, ARNOS, K. S, LANDA, B, LEVERTON, K, MILUNSKY, A, MORELL, R, NANCE, W. E, NEWTON, V, RAJKUMAR RAMESAR, RAO, V. S, REYNOLDS, J. E, SAN AGUSTIN, T. B, ASHER, J. H, WILCOW, E. R, WINSHIP, I, READ, A. P, BALDWIN, C. T, DIEHL, S. R, FRIEDMAN, T. B, GREENBERG, J, GRUNDFAST, K. M, HOTH, C, LALWANI, A. K
Published in American journal of human genetics (01.10.1994)
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Published in American journal of human genetics (01.10.1994)
Journal Article
Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7
Carey, M L, Friedman, T B, Asher, J H, Innis, J W
Published in Journal of medical genetics (01.03.1998)
Published in Journal of medical genetics (01.03.1998)
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Journal Article
Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village
Winata, S, Arhya, I N, Moeljopawiro, S, Hinnant, J T, Liang, Y, Friedman, T B, Asher, J H
Published in Journal of medical genetics (01.05.1995)
Published in Journal of medical genetics (01.05.1995)
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