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Results: 1 to 20 of 26

1.

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.

Döffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia SH, Headon DJ, Overbeek PA, Le Deist F, Holland SM, Belani K, Kumararatne DS, Fischer A, Shapiro R, Conley ME, Reimund E, Kalhoff H, Abinun M, Munnich A, Israël A, Courtois G, Casanova JL.

Nat Genet. 2001 Mar;27(3):277-85.

PMID:
11242109
[PubMed - indexed for MEDLINE]
2.

Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection.

Mansour S, Woffendin H, Mitton S, Jeffery I, Jakins T, Kenwrick S, Murday VA.

Am J Med Genet. 2001 Mar 1;99(2):172-7.

PMID:
11241484
[PubMed - indexed for MEDLINE]
3.

Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia.

Jain A, Ma CA, Liu S, Brown M, Cohen J, Strober W.

Nat Immunol. 2001 Mar;2(3):223-8.

PMID:
11224521
[PubMed - indexed for MEDLINE]
4.

Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma).

Aradhya S, Courtois G, Rajkovic A, Lewis RA, Levy M, Israël A, Nelson DL.

Am J Hum Genet. 2001 Mar;68(3):765-71. Epub 2001 Feb 8.

PMID:
11179023
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).

Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, Shapira SK, Farndon PA, Wara DW, Emmal SA, Ferguson BM.

Am J Hum Genet. 2000 Dec;67(6):1555-62. Epub 2000 Oct 24.

PMID:
11047757
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism.

Oldenburg J, Rost S, El-Maarri O, Leuer M, Olek K, Müller CR, Schwaab R.

Blood. 2000 Oct 15;96(8):2905-6.

PMID:
11023529
[PubMed - indexed for MEDLINE]
Free Article
7.

Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males.

Clayton-Smith J, Watson P, Ramsden S, Black GC.

Lancet. 2000 Sep 2;356(9232):830-2.

PMID:
11022934
[PubMed - indexed for MEDLINE]
8.

The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism.

Has C, Bruckner-Tuderman L, Müller D, Floeth M, Folkers E, Donnai D, Traupe H.

Hum Mol Genet. 2000 Aug 12;9(13):1951-5.

PMID:
10942423
[PubMed - indexed for MEDLINE]
Free Article
9.

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.

Nature. 2000 May 25;405(6785):466-72.

PMID:
10839543
[PubMed - indexed for MEDLINE]
10.

Severe liver degeneration and lack of NF-kappaB activation in NEMO/IKKgamma-deficient mice.

Rudolph D, Yeh WC, Wakeham A, Rudolph B, Nallainathan D, Potter J, Elia AJ, Mak TW.

Genes Dev. 2000 Apr 1;14(7):854-62.

PMID:
10766741
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation.

Woffendin H, Jakins T, Jouet M, Stewart H, Landy S, Haan E, Harris A, Donnai D, Read A, Kenwrick S.

Clin Genet. 1999 Jan;55(1):55-60.

PMID:
10066033
[PubMed - indexed for MEDLINE]
12.

IKK-gamma is an essential regulatory subunit of the IkappaB kinase complex.

Rothwarf DM, Zandi E, Natoli G, Karin M.

Nature. 1998 Sep 17;395(6699):297-300.

PMID:
9751060
[PubMed - indexed for MEDLINE]
13.

Complementation cloning of NEMO, a component of the IkappaB kinase complex essential for NF-kappaB activation.

Yamaoka S, Courtois G, Bessia C, Whiteside ST, Weil R, Agou F, Kirk HE, Kay RJ, Israël A.

Cell. 1998 Jun 26;93(7):1231-40.

PMID:
9657155
[PubMed - indexed for MEDLINE]
Free Article
14.

Male cases of incontinentia pigmenti: case report and review.

Scheuerle AE.

Am J Med Genet. 1998 May 18;77(3):201-18. Review.

PMID:
9605587
[PubMed - indexed for MEDLINE]
15.

Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2.

Parrish JE, Scheuerle AE, Lewis RA, Levy ML, Nelson DL.

Hum Mol Genet. 1996 Nov;5(11):1777-83.

PMID:
8923006
[PubMed - indexed for MEDLINE]
Free Article
16.

Suppression of TNF-alpha-induced apoptosis by NF-kappaB.

Van Antwerp DJ, Martin SJ, Kafri T, Green DR, Verma IM.

Science. 1996 Nov 1;274(5288):787-9.

PMID:
8864120
[PubMed - indexed for MEDLINE]
17.

Gonadal mosaicism for incontinentia pigmenti in a healthy male.

Kirchman TT, Levy ML, Lewis RA, Kanzler MH, Nelson DL, Scheuerle AE.

J Med Genet. 1995 Nov;32(11):887-90.

PMID:
8592334
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Incontinentia pigmenti (Bloch-Sulzberger syndrome).

Landy SJ, Donnai D.

J Med Genet. 1993 Jan;30(1):53-9. Review. No abstract available.

PMID:
8423608
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Incontinentia pigmenti in a boy with Klinefelter's syndrome.

Ormerod AD, White MI, McKay E, Johnston AW.

J Med Genet. 1987 Jul;24(7):439-41.

PMID:
3612722
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Incontinentia pigmenti in a male infant with Klinefelter syndrome.

Prendiville JS, Gorski JL, Stein CK, Esterly NB.

J Am Acad Dermatol. 1989 May;20(5 Pt 2):937-40.

PMID:
2715449
[PubMed - indexed for MEDLINE]

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