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Page 1
The DNA sequence of the human X chromosome.
Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood… See abstract for full author list ➔ Ross MT, et al. Among authors: aradhya s. Nature. 2005 Mar 17;434(7031):325-37. doi: 10.1038/nature03440. Nature. 2005. PMID: 15772651 Free PMC article.
NF-kappaB signaling and human disease.
Aradhya S, Nelson DL. Aradhya S, et al. Curr Opin Genet Dev. 2001 Jun;11(3):300-6. doi: 10.1016/s0959-437x(00)00194-5. Curr Opin Genet Dev. 2001. PMID: 11377967 Review.
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.
Smahi A, Courtois G, Vabres P, Yamaoka S, Heuertz S, Munnich A, Israël A, Heiss NS, Klauck SM, Kioschis P, Wiemann S, Poustka A, Esposito T, Bardaro T, Gianfrancesco F, Ciccodicola A, D'Urso M, Woffendin H, Jakins T, Donnai D, Stewart H, Kenwrick SJ, Aradhya S, Yamagata T, Levy M, Lewis RA, Nelson DL. Smahi A, et al. Among authors: aradhya s. Nature. 2000 May 25;405(6785):466-72. doi: 10.1038/35013114. Nature. 2000. PMID: 10839543
Mutation analysis of the DKC1 gene in incontinentia pigmenti.
Heiss NS, Poustka A, Knight SW, Aradhya S, Nelson DL, Lewis RA, Esposito T, Ciccodicola A, D'Urso M, Smahi A, Heuertz S, Munnich A, Vabres P, Woffendin H, Kenwrick S. Heiss NS, et al. Among authors: aradhya s. J Med Genet. 1999 Nov;36(11):860-2. J Med Genet. 1999. PMID: 10636732 Free PMC article. No abstract available.
Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2.
Aradhya S, Ahobila P, Lewis RA, Nelson DL, Esposito T, Ciccodicola A, Bardaro T, D'Urso M, Woffendin H, Kenwrick S, Smahi A, Heuertz S, Munnich A, Heiss NS, Poustka A, Chishti AH. Aradhya S, et al. Am J Med Genet. 2000 Sep 4;94(1):79-84. doi: 10.1002/1096-8628(20000904)94:1<79::aid-ajmg17>3.0.co;2-m. Am J Med Genet. 2000. PMID: 10982489 No abstract available.
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.
Kenwrick S, Woffendin H, Jakins T, Shuttleworth SG, Mayer E, Greenhalgh L, Whittaker J, Rugolotto S, Bardaro T, Esposito T, D'Urso M, Soli F, Turco A, Smahi A, Hamel-Teillac D, Lyonnet S, Bonnefont JP, Munnich A, Aradhya S, Kashork CD, Shaffer LG, Nelson DL, Levy M, Lewis RA; International IP Consortium. Kenwrick S, et al. Among authors: aradhya s. Am J Hum Genet. 2001 Dec;69(6):1210-7. doi: 10.1086/324591. Epub 2001 Oct 22. Am J Hum Genet. 2001. PMID: 11673821 Free PMC article.
154 results