22
results
for author:"Weiss R.B."
in Literature Citations
| A human polymorphism affects NEDD4L subcellular targeting by leading to two isoforms that contain or lack a C2 domain. Garrone N.F., Blazer-Yost B.L., Weiss R.B., Lalouel J.M., Rohrwasser A. BMC Cell Biol. 10:26-26(2009) · Mapped (7) |
| DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6. Gurvich O.L., Maiti B., Weiss R.B., Aggarwal G., Howard M.T., Flanigan K.M. Hum. Mutat. 30:633-640(2009) · Mapped (71) |
| Down-regulation of hepcidin in porphyria cutanea tarda. Ajioka R.S., Phillips J.D., Weiss R.B., Dunn D.M., Smit M.W., Proll S.C., Katze M.G., Kushner J.P. Blood 112:4723-4728(2008) · Mapped (21) |
| A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction. Weiss R.B., Baker T.B., Cannon D.S., von Niederhausern A., Dunn D.M., Matsunami N., Singh N.A., Baird L., Coon H., McMahon W.M. et al. PLoS Genet. 4:e1000125-e1000125(2008) · Mapped (5) |
| Sequence alterations in the YBX2 gene are associated with male factor infertility. Hammoud S., Emery B.R., Dunn D., Weiss R.B., Carrell D.T. Fertil. Steril. 91:1090-1095(2009) · Mapped (3) |
| DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy. Gurvich O.L., Tuohy T.M., Howard M.T., Finkel R.S., Medne L., Anderson C.B., Weiss R.B., Wilton S.D., Flanigan K.M. Ann. Neurol. 63:81-89(2008) · Mapped (71) |
| EGO, a novel, noncoding RNA gene, regulates eosinophil granule protein transcript expression. Wagner L.A., Christensen C.J., Dunn D.M., Spangrude G.J., Georgelas A., Kelley L., Esplin M.S., Weiss R.B., Gleich G.J. Blood 109:5191-5198(2007) · Mapped (6) |
| Duplications in the DMD gene. White S.J., Aartsma-Rus A., Flanigan K.M., Weiss R.B., Kneppers A.L., Lalic T., Janson A.A., Ginjaar H.B., Breuning M.H., den Dunnen J.T. Hum. Mutat. 27:938-945(2006) · Mapped (71) |
| Altered localization of CXCL13 expressing cells in mice deficient in pactolus following an inflammatory stimulus. Hojgaard A., Close R., Dunn D.M., Weiss R.B., Weis J.J., Weis J.H. Immunology 119:212-223(2006) · UniProtKB (1) |
| Bb2Bb3 regulation of murine Lyme arthritis is distinct from Ncf1 and independent of the phagocyte nicotinamide adenine dinucleotide phosphate oxidase. Crandall H., Ma Y., Dunn D.M., Sundsbak R.S., Zachary J.F., Olofsson P., Holmdahl R., Weis J.H., Weiss R.B., Teuscher C. et al. Am. J. Pathol. 167:775-785(2005) · Mapped (12) |
| Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. Dent K.M., Dunn D.M., von Niederhausern A.C., Aoyagi A.T., Kerr L., Bromberg M.B., Hart K.J., Tuohy T., White S., den Dunnen J.T. et al. Am. J. Med. Genet. A 134:295-298(2005) · Mapped (71) |
| Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. Lampe A.K., Dunn D.M., von Niederhausern A.C., Hamil C., Aoyagi A., Laval S.H., Marie S.K., Chu M.-L., Swoboda K., Muntoni F. et al. J. Med. Genet. 42:108-120(2005) · UniProtKB (3) |
| Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Gibbs R.A., Weinstock G.M., Metzker M.L., Muzny D.M., Sodergren E.J., Scherer S., Scott G., Steffen D., Worley K.C., Burch P.E. et al. |
| Rapid direct sequence analysis of the dystrophin gene. Flanigan K.M., von Niederhausern A., Dunn D.M., Alder J., Mendell J.R., Weiss R.B. Am. J. Hum. Genet. 72:931-939(2003) · UniProtKB (1) · Mapped (70) |
| Common variant of human NEDD4L activates a cryptic splice site to form a frameshifted transcript. Dunn D.M., Ishigami T., Pankow J., von Niederhausern A., Alder J., Hunt S.C., Leppert M.F., Lalouel J.M., Weiss R.B. J. Hum. Genet. 47:665-676(2002) · Mapped (7) |
| Initial sequencing and comparative analysis of the mouse genome. Waterston R.H., Lindblad-Toh K., Birney E., Rogers J., Abril J.F., Agarwal P., Agarwala R., Ainscough R., Alexandersson M., An P. et al. Nature 420:520-562(2002) · UniProtKB (1) |
| DNA sequence variation in a 3.7-kb noncoding sequence 5' of the CYP1A2 gene: implications for human population history and natural selection. Wooding S.P., Watkins W.S., Bamshad M.J., Dunn D.M., Weiss R.B., Jorde L.B. Am. J. Hum. Genet. 71:528-542(2002) · Mapped (2) |
| Genomic sequence of hyperthermophile, Pyrococcus furiosus: implications for physiology and enzymology. Robb F.T., Maeder D.L., Brown J.R., DiRuggiero J., Stump M.D., Yeh R.K., Weiss R.B., Dunn D.M. Meth. Enzymol. 330:134-157(2001) · UniProtKB (26) |
| Evidence of recent lateral gene transfer among hyperthermophilic archaea. Diruggiero J., Dunn D., Maeder D.L., Holley-Shanks R., Chatard J., Horlacher R., Robb F.T., Boos W., Weiss R.B. Mol. Microbiol. 38:684-693(2000) · UniProtKB (30) |
| Divergence of the hyperthermophilic archaea Pyrococcus furiosus and P. horikoshii inferred from complete genomic sequences. Maeder D.L., Weiss R.B., Dunn D.M., Cherry J.L., Gonzalez J.M., DiRuggiero J., Robb F.T. Genetics 152:1299-1305(1999) · UniProtKB (26) |
| Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts. Cawthon R.M., O'Connell P., Buchberg A.M., Viskochil D., Weiss R.B., Culver M., Stevens J., Jenkins N.A., Copeland N.G., White R. Genomics 7:555-565(1990) · UniProtKB (1) |
| cDNA sequence and genomic structure of EVI2B, a gene lying within an intron of the neurofibromatosis type 1 gene. Cawthon R.M., Andersen L.B., Buchberg A.M., Xu G., O'Connell P., Viskochil D., Weiss R.B., Wallace M.R., Marchuk D.A., Culver M. et al. Genomics 9:446-460(1991) · UniProtKB (1) |
