Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

16 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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. Among authors: woffendin h. 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.
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: woffendin h. J Med Genet. 1999 Nov;36(11):860-2. J Med Genet. 1999. PMID: 10636732 Free PMC article. No abstract available.
Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2.
Aradhya S, Nelson DL, Heiss NS, Poustka A, Woffendin H, Kenwrick S, Esposito T, Ciccodicola A, Bardaro T, D'Urso M, Smahi A, Munnich A, Herman GE, Lewis RA. Aradhya S, et al. Among authors: woffendin h. Am J Med Genet. 2000 Mar 20;91(3):241-4. doi: 10.1002/(sici)1096-8628(20000320)91:3<241::aid-ajmg19>3.0.co;2-j. Am J Med Genet. 2000. PMID: 10756353 No abstract available.
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: woffendin h. Nature. 2000 May 25;405(6785):466-72. doi: 10.1038/35013114. Nature. 2000. PMID: 10839543
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: woffendin h. 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.
16 results