11
results
for author:"Aradhya S."
in Literature Citations
| Mutations in the calcium-related gene IL1RAPL1 are associated with autism. Piton A., Michaud J.L., Peng H., Aradhya S., Gauthier J., Mottron L., Champagne N., Lafreniere R.G., Hamdan F.F., Joober R. et al. Hum. Mol. Genet. 17:3965-3974(2008) · Mapped (4) |
| Genetic analysis of attractin homologs. Walker W.P., Aradhya S., Hu C.-L., Shen S., Zhang W., Azarani A., Lu X., Barsh G.S., Gunn T.M. |
| A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis. McGowan K.A., Aradhya S., Fuchs H., de Angelis M.H., Barsh G.S. J. Invest. Dermatol. 126:1013-1016(2006) · UniProtKB (1) |
| The DNA sequence of the human X chromosome. Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P. et al. Nature 434:325-337(2005) · UniProtKB (1,199) |
| The human secretin gene: fine structure in 11p15.5 and sequence variation in patients with autism. Yamagata T., Aradhya S., Mori M., Inoue K., Momoi M.Y., Nelson D.L. Genomics 80:185-194(2002) · Mapped (5) |
| Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable loci in distal Xq28. Aradhya S., Woffendin H., Bonnen P., Heiss N.S., Yamagata T., Esposito T., Bardaro T., Poustka A., D'Urso M., Kenwrick S. et al. Genomics 79:31-40(2002) · UniProtKB (1) |
| Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Aradhya S., Bardaro T., Galgoczy P., Yamagata T., Esposito T., Patlan H., Ciccodicola A., Kenwrick S., Platzer M., D'Urso M. et al. Hum. Mol. Genet. 10:2557-2567(2001) · UniProtKB (3) · Mapped (3) |
| Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. International IP Consortium Am. J. Hum. Genet. 69:1210-1217(2001) · Mapped (4) |
| A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. Aradhya S., Woffendin H., Jakins T., Bardaro T., Esposito T., Smahi A., Shaw C., Levy M., Munnich A., D'Urso M. et al. Hum. Mol. Genet. 10:2171-2179(2001) · UniProtKB (1) |
| Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. Smahi A., Courtois G., Vabres P., Yamaoka S., Heuertz S., Munnich A., Israel A., Heiss N.S., Klauck S.M., Kioschis P. et al. Nature 405:466-472(2000) · UniProtKB (1) |
| Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2. Aradhya S., Nelson D.L., Heiss N.S., Poustka A., Woffendin H., Kenwrick S., Esposito T., Ciccodicola A., Bardaro T., D'Urso M. et al. Am. J. Med. Genet. 91:241-244(2000) · Mapped (4) |
