| 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. Jr., Innis J.W.
J. Med. Genet. 35:248-250(1998) · UniProtKB (1) · Mapped (5) |
| 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., Li H., Swenson L.B., Opdecamp K., Asher J.H. Jr., Arnheiter H., Glaser T.
Hum. Mol. Genet. 7:703-708(1998) · UniProtKB (1) |
| Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Morell R., Spritz R.A., Ho L., Pierpont J., Guo W., Friedman T.B., Asher J.H. Jr.
Hum. Mol. Genet. 6:659-664(1997) · UniProtKB (1) |
| Human inner ear OCP2 cDNA maps to 5q22-5q35.2 with related sequences on chromosomes 4p16.2-4p14, 5p13-5q22, 7pter-q22, 10 and 12p13-12qter. Liang Y., Chen H., Asher J.H. Jr., Chang C.-C., Friedman T.B.
Gene 184:163-167(1997) · UniProtKB (1) |
| Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation. Asher J.H. Jr., Harrison R.W., Morell R., Carey M.L., Friedman T.B.
Genomics 34:285-298(1996) · Mapped (8) |
| Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome. Asher J.H. Jr., Sommer A., Morell R., Friedman T.B.
Hum. Mutat. 7:30-35(1996) · UniProtKB (1) · Mapped (5) |
| 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 S., Asher J.H. Jr.
Hum. Mol. Genet. 1:243-247(1992) · UniProtKB (1) |
