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Items: 1 to 20 of 21

1.

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.

Am J Hum Genet. 2001 Dec;69(6):1210-7. Epub 2001 Oct 22.

2.

Incontinentia pigmenti in a male infant with Klinefelter syndrome: a case report and review of the literature.

Buinauskaite E, Buinauskiene J, Kucinskiene V, Strazdiene D, Valiukeviciene S.

Pediatr Dermatol. 2010 Sep-Oct;27(5):492-5. doi: 10.1111/j.1525-1470.2010.01261.x. Epub 2010 Aug 27. Review.

PMID:
20807362
3.

NEMO gene rearrangement (exon 4-10 deletion) and genotype-phenotype relationship in Japanese patients with incontinentia pigmenti and review of published work in Japanese patients.

Okita M, Nakanishi G, Fujimoto N, Shiomi M, Yamada T, Wataya-Kaneda M, Takijiri C, Yokoyama Y, Sunohara A, Tanaka T.

J Dermatol. 2013 Apr;40(4):272-6. doi: 10.1111/1346-8138.12091. Epub 2013 Feb 11. Review.

PMID:
23398170
4.

Incontinentia pigmenti (Bloch-Sulzberger syndrome).

Narayanan MJ, Rangasamy S, Narayanan V.

Handb Clin Neurol. 2015;132:271-80. doi: 10.1016/B978-0-444-62702-5.00020-2. Review.

PMID:
26564087
5.

Incontinentia pigmenti in an XY boy: case report and review of the literature.

Mullan E, Barbarian M, Trakadis Y, Moroz B.

J Cutan Med Surg. 2014 Mar-Apr;18(2):119-22. Review.

PMID:
24636437
6.

[From gene to disease; incontinentia pigmenti and the NEMO-gene].

Oranje AP, Arts WF, Wagner A, van der Hout AH, Simonsz HJ.

Ned Tijdschr Geneeskd. 2005 Jul 23;149(30):1682-5. Review. Dutch.

PMID:
16104114
7.

Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder.

Ehrenreich M, Tarlow MM, Godlewska-Janusz E, Schwartz RA.

Cutis. 2007 May;79(5):355-62. Review.

PMID:
17569396
8.

[Proposal for a protocol for the staging of incontinentia pigmenti in pediatric age].

Portaleone D, Taroni F, Micheli S, Moioli M, Pedrazzini A, Cognizzoli P, Carnelli V.

Minerva Pediatr. 2007 Jun;59(3):255-65. Review. Italian.

PMID:
17519871
9.

[Incontinentia pigmenti. A rare disease with many symptoms].

Holmström G, Bergendal B, Hallberg G, Marcus S, Hallén A, Dahl N.

Lakartidningen. 2002 Mar 21;99(12):1345-50. Review. Swedish.

PMID:
11998169
10.

Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology.

Berlin AL, Paller AS, Chan LS.

J Am Acad Dermatol. 2002 Aug;47(2):169-87; quiz 188-90. Review.

PMID:
12140463
11.

EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.

Fusco F, Pescatore A, Conte MI, Mirabelli P, Paciolla M, Esposito E, Lioi MB, Ursini MV.

Int Rev Immunol. 2015;34(6):445-59. doi: 10.3109/08830185.2015.1055331. Epub 2015 Aug 13. Review.

PMID:
26269396
12.

NF-kappa B defects in humans: the NEMO/incontinentia pigmenti connection.

Courtois G, Israël A.

Sci STKE. 2000 Nov 14;2000(58):pe1. Review.

PMID:
11752619
13.
14.

Incontinentia pigmenti and hypomelanosis of Ito.

Bodemer C.

Handb Clin Neurol. 2013;111:341-7. doi: 10.1016/B978-0-444-52891-9.00040-3. Review.

PMID:
23622185
15.

The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes.

Smahi A, Courtois G, Rabia SH, Döffinger R, Bodemer C, Munnich A, Casanova JL, Israël A.

Hum Mol Genet. 2002 Oct 1;11(20):2371-5. Review.

PMID:
12351572
16.

Incontinentia pigmenti (IP2): familiar case report with affected men. Literature review.

Arenas-Sordo Mde L, Vallejo-Vega B, Hernández-Zamora E, Gálvez-Rosas A, Montoya-Pérez LA.

Med Oral Patol Oral Cir Bucal. 2005 Jul 1;10 Suppl 2:E122-9. Review. English, Spanish.

17.

Incontinentia pigmenti (Bloch-Sulzberger syndrome).

Landy SJ, Donnai D.

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

18.

Incontinentia pigmenti: a window to the role of NF-kappaB function.

Bruckner AL.

Semin Cutan Med Surg. 2004 Jun;23(2):116-24. Review.

PMID:
15295921
19.

Incontinentia Pigmenti.

Scheuerle AE, Ursini MV.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
1999 Jun 8 [updated 2015 Feb 12].

20.

General and dental characteristics of Bloch-Sulzberger syndrome. Review of literature and presentation of a case report.

Domínguez-Reyes A, Aznar-Martin T, Cabrera-Suarea E.

Med Oral. 2002 Jul-Oct;7(4):293-7. Review. English, Spanish.

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