Items where Author is "Dryja, Thaddeus P."

2006

Rivolta, Carlo and Berson, Eliot L. and Dryja, Thaddeus P.. (2006) Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases. Molecular vision, 12. pp. 1511-1515.

Rivolta, Carlo and McGee, Terri L. and Rio Frio, Thomas and Jensen, Roderick V. and Berson, Eliot L. and Dryja, Thaddeus P.. (2006) Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. Human mutation, 27 (7). pp. 644-653.

2004

Seyedahmadi, Babak Jian and Rivolta, Carlo and Keene, Julia A. and Berson, Eliot L. and Dryja, Thaddeus P.. (2004) Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. Experimental Eye Research, 79 (2). pp. 167-173.

November 2002

Wang, Xuejiao and Xu, Siqun and Rivolta, Carlo and Li, Lili Y. and Peng, Guang-Hua and Swain, Prabodh K. and Sung, Ching-Hwa and Swaroop, Anand and Berson, Eliot L. and Dryja, Thaddeus P. and Chen, Shiming. (2002) Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function. Journal of Biological Chemistry, 277 (45). pp. 43288-43300.

2002

Rivolta, Carlo and Berson, Eliot L. and Dryja, Thaddeus P.. (2002) Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A. Archives of ophthalmology, 120 (11). pp. 1566-1571.

Rivolta, Carlo and Sharon, Dror and DeAngelis, Margaret M. and Dryja, Thaddeus P.. (2002) Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Human Molecular Genetics, 11 (10). pp. 1219-1227.

2001

Rivolta, Carlo and Berson, Eliot L. and Dryja, Thaddeus P.. (2001) Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX. Human Mutation, 18 (6). pp. 488-498.

Rivolta, Carlo and Peck, Naomi E. and Fulton, Anne B. and Fishman, Gerald A. and Berson, Eliot L. and Dryja, Thaddeus P.. (2001) Novel frameshift mutations in CRX associated with Leber congenital amaurosis. Human mutation, 18 (6). pp. 550-551.

2000

Rivolta, Carlo and Sweklo, Elizabeth A. and Berson, Eliot L. and Dryja, Thaddeus P.. (2000) Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. American Journal of Human Genetics, 66 (6). pp. 1975-1978.