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Results: 1 to 20 of 127

Similar articles for PubMed (Select 11590134)

1.

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.

2.

Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura.

Ramírez-Alejo N, Alcántara-Montiel JC, Yamazaki-Nakashimada M, Duran-McKinster C, Valenzuela-León P, Rivas-Larrauri F, Cedillo-Barrón L, Hernández-Rivas R, Santos-Argumedo L.

Clin Immunol. 2015 Jun 24. pii: S1521-6616(15)00211-9. doi: 10.1016/j.clim.2015.06.007. [Epub ahead of print]

PMID:
26117626
3.

Incontinentia Pigmenti: A Comprehensive Review and Update.

Swinney CC, Han DP, Karth PA.

Ophthalmic Surg Lasers Imaging Retina. 2015 Jun 1;46(6):650-7. doi: 10.3928/23258160-20150610-09.

PMID:
26114846
4.

Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti.

Hull S, Arno G, Thomson P, Mutch S, Webster AR, Rai H, Hill V, Moore AT.

Am J Med Genet A. 2015 Jul;167(7):1601-4. doi: 10.1002/ajmg.a.37004. Epub 2015 May 5.

PMID:
25944529
5.

NF-κB Essential Modulator Deficiency Leading to Disseminated Cutaneous Atypical Mycobacteria.

Braue J, Murugesan V, Holland S, Patel N, Naik E, Leiding J, Yacoub AT, Prieto-Granada CN, Greene JN.

Mediterr J Hematol Infect Dis. 2015 Jan 1;7(1):e2015010. doi: 10.4084/MJHID.2015.010. eCollection 2015.

6.

Incontinentia pigmenti: report on data from 2000 to 2013.

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

Orphanet J Rare Dis. 2014 Jun 24;9:93. doi: 10.1186/1750-1172-9-93.

7.

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
8.

Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease.

Pizzamiglio MR, Piccardi L, Bianchini F, Canzano L, Palermo L, Fusco F, D'Antuono G, Gelmini C, Garavelli L, Ursini MV.

PLoS One. 2014 Jan 29;9(1):e87771. doi: 10.1371/journal.pone.0087771. eCollection 2014.

9.

Genomic analysis of a girl with incontinentia pigmenti but without NEMO mutation.

Khan AO, Al-Kahtani E, Kondkar AA, Abu-Amero KK.

Clin Dysmorphol. 2014 Apr;23(2):52-5. doi: 10.1097/MCD.0000000000000024. No abstract available.

PMID:
24487970
10.

Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.

Conte MI, Pescatore A, Paciolla M, Esposito E, Miano MG, Lioi MB, McAleer MA, Giardino G, Pignata C, Irvine AD, Scheuerle AE, Royer G, Hadj-Rabia S, Bodemer C, Bonnefont JP, Munnich A, Smahi A, Steffann J, Fusco F, Ursini MV.

Hum Mutat. 2014 Feb;35(2):165-77. doi: 10.1002/humu.22483. Epub 2013 Dec 12. Review.

PMID:
24339369
11.

A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti.

Towers RE, Murgiano L, Millar DS, Glen E, Topf A, Jagannathan V, Drögemüller C, Goodship JA, Clarke AJ, Leeb T.

PLoS One. 2013 Dec 4;8(12):e81625. doi: 10.1371/journal.pone.0081625. eCollection 2013.

12.

A 14-year-old girl with an unusual combination of incontinentia pigmenti and conversion disorder.

Wang Y, Chen Y, Wang Q, Wang G, Guo C, Wang F, Deng X, Wang W.

Int J Clin Exp Med. 2013 Oct 25;6(10):1006-9. eCollection 2013.

13.

First IKBKG gene mutation study in Serbian incontinentia pigmenti patients.

Minić S, Trpinac D, Gabriel H, Gencik M, Obradović M.

Srp Arh Celok Lek. 2013 Jul-Aug;141(7-8):490-4.

PMID:
24073555
14.

Blaschko line analogies in the central nervous system: a hypothesis.

Minić S, Trpinac D, Obradović M.

Med Hypotheses. 2013 Oct;81(4):671-4. doi: 10.1016/j.mehy.2013.07.024. Epub 2013 Aug 6.

PMID:
23932762
15.

Incontinentia pigmenti diagnostic criteria update.

Minić S, Trpinac D, Obradović M.

Clin Genet. 2014 Jun;85(6):536-42. doi: 10.1111/cge.12223. Epub 2013 Jul 21.

PMID:
23802866
16.

Long-term follow-up of neurological manifestations in a boy with incontinentia pigmenti.

Margari L, Lamanna AL, Buttiglione M, Craig F, Petruzzelli MG, Terenzio V.

Eur J Pediatr. 2013 Sep;172(9):1259-62. doi: 10.1007/s00431-013-2021-8. Epub 2013 May 8.

PMID:
23652938
17.

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
18.

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
19.

Serial cytokine expressions in infants with incontinentia pigmenti.

Liao SL, Lai SH, Huang JL, Lee NC, Lee WI.

Immunobiology. 2013 May;218(5):772-9. doi: 10.1016/j.imbio.2012.08.280. Epub 2012 Sep 5.

PMID:
23079196
20.

Cell signalling: The NEMO guide to IκB.

Papatriantafyllou M.

Nat Rev Mol Cell Biol. 2012 Jun 13;13(7):408. doi: 10.1038/nrm3380. No abstract available.

PMID:
22691848
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