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Items: 1 to 20 of 124

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.

2.

The common NF-κB essential modulator (NEMO) gene rearrangement in Korean patients with incontinentia pigmenti.

Song MJ, Chae JH, Park EA, Ki CS.

J Korean Med Sci. 2010 Oct;25(10):1513-7. doi: 10.3346/jkms.2010.25.10.1513.

3.

NEMO gene mutations in Chinese patients with incontinentia pigmenti.

Hsiao PF, Lin SP, Chiang SS, Wu YH, Chen HC, Lin YC.

J Formos Med Assoc. 2010 Mar;109(3):192-200. doi: 10.1016/S0929-6646(10)60042-3.

4.

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
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.

6.

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.

7.

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. Review.

PMID:
20807362
8.

Incontinentia pigmenti in male patients.

Pacheco TR, Levy M, Collyer JC, de Parra NP, Parra CA, Garay M, Aprea G, Moreno S, Mancini AJ, Paller AS.

J Am Acad Dermatol. 2006 Aug;55(2):251-5.

PMID:
16844507
9.

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, Lewis RA, Kenwrick S, Nelson DL.

Hum Mol Genet. 2001 Sep 15;10(19):2171-9.

PMID:
11590134
10.

[Incontinentia pigmenti in a male patient].

Burkhardt D, Schuffenhauer S, Peter RU, Walther JU, Ruzicka T.

Hautarzt. 1993 Mar;44(3):153-6. German.

PMID:
8463096
11.

Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.

Fusco F, Bardaro T, Fimiani G, Mercadante V, Miano MG, Falco G, Israël A, Courtois G, D'Urso M, Ursini MV.

Hum Mol Genet. 2004 Aug 15;13(16):1763-73.

PMID:
15229184
12.

Incontinentia pigmenti in a newborn with NEMO mutation.

Lee Y, Kim S, Kim K, Chang M.

J Korean Med Sci. 2011 Feb;26(2):308-11. doi: 10.3346/jkms.2011.26.2.308.

13.

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
14.

Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms.

Fusco F, Paciolla M, Napolitano F, Pescatore A, D'Addario I, Bal E, Lioi MB, Smahi A, Miano MG, Ursini MV.

Hum Mol Genet. 2012 Mar 15;21(6):1260-71. doi: 10.1093/hmg/ddr556.

PMID:
22121116
15.

A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency.

Martinez-Pomar N, Munoz-Saa I, Heine-Suner D, Martin A, Smahi A, Matamoros N.

Hum Genet. 2005 Dec;118(3-4):458-65.

PMID:
16228229
16.

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. Review.

PMID:
23398170
17.

[Two neonates with vesicular skin lesions due to incontinentia pigmenti].

Winterberg DH, van Tijn DA, Smitt JH, Winterberg S, Vomberg PP.

Ned Tijdschr Geneeskd. 2001 Nov 10;145(45):2178-82. Dutch.

PMID:
11727618
18.

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
19.

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.

20.

[NEMO Delta 4-10 deletion of NEMO gene in Chinese incontinentia pigmenti cases].

Li L, Song GW, DU JB, Liu JR, Xu FS, Liu XY, Zhang T.

Zhonghua Er Ke Za Zhi. 2005 Feb;43(2):89-92. Chinese.

PMID:
15833158

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