181 related articles for article (PubMed ID: 20890435)
21. 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. PubMed ID: 16228229
[TBL] [Abstract][Full Text] [Related]
22. Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism.
Haque MN; Ohtsubo M; Nishina S; Nakao S; Yoshida K; Hosono K; Kurata K; Ohishi K; Fukami M; Sato M; Hotta Y; Azuma N; Minoshima S
J Hum Genet; 2021 Feb; 66(2):205-214. PubMed ID: 32908217
[TBL] [Abstract][Full Text] [Related]
23. Clinical and molecular analysis of NF-kappaB essential modulator in Chinese incontinentia pigmenti patients.
Zou CC; Zhao ZY
Int J Dermatol; 2007 Oct; 46(10):1017-22. PubMed ID: 17910706
[TBL] [Abstract][Full Text] [Related]
24. De novo NEMO gene deletion (delta4-10)--a cause of incontinentia pigmenti in a female infant: a case report.
Culić V; Gabrić D; Puizina-Ivić N; Rozman K; Peterlin B; Pavelić J
Coll Antropol; 2008 Dec; 32(4):1259-62. PubMed ID: 19149237
[TBL] [Abstract][Full Text] [Related]
25. 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; 13(16):1763-73. PubMed ID: 15229184
[TBL] [Abstract][Full Text] [Related]
26. Incontinentia Pigmenti.
Cammarata-Scalisi F; Fusco F; Ursini MV
Actas Dermosifiliogr (Engl Ed); 2019 May; 110(4):273-278. PubMed ID: 30660327
[TBL] [Abstract][Full Text] [Related]
27. [Incontinentia pigmenti (Bloch-Sulzberger syndrome)].
Mühlenstädt E; Eigelshoven S; Hoff NP; Reifenberger J; Homey B; Bruch-Gerharz D
Hautarzt; 2010 Oct; 61(10):831-3. PubMed ID: 20865235
[TBL] [Abstract][Full Text] [Related]
28. A Novel Frameshift Mutation of the IKBKG Gene Causing Typical Incontinentia Pigmenti.
Minić S; Trpinac D; Obradović M
Srp Arh Celok Lek; 2015; 143(11-12):752-4. PubMed ID: 26946775
[TBL] [Abstract][Full Text] [Related]
29. Molecular analysis of low-level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti.
Kawai M; Kato T; Tsutsumi M; Shinkai Y; Inagaki H; Kurahashi H
Mol Genet Genomic Med; 2020 Dec; 8(12):e1531. PubMed ID: 33085210
[TBL] [Abstract][Full Text] [Related]
30. [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. PubMed ID: 17519871
[TBL] [Abstract][Full Text] [Related]
31. Skin lesion development in a mouse model of incontinentia pigmenti is triggered by NEMO deficiency in epidermal keratinocytes and requires TNF signaling.
Nenci A; Huth M; Funteh A; Schmidt-Supprian M; Bloch W; Metzger D; Chambon P; Rajewsky K; Krieg T; Haase I; Pasparakis M
Hum Mol Genet; 2006 Feb; 15(4):531-42. PubMed ID: 16399796
[TBL] [Abstract][Full Text] [Related]
32. Incontinentia pigmenti with NEMO mutation in a Japanese family.
Okita M; Nakanishi G; Fujimoto N; Kishida M; Tanaka T
J Dermatol; 2012 Nov; 39(11):940-1. PubMed ID: 22300264
[No Abstract] [Full Text] [Related]
33. 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; 18(2):119-22. PubMed ID: 24636437
[TBL] [Abstract][Full Text] [Related]
34. De Novo incontinentia pigmenti in female twins.
Su PH; Chen JY; Yu JS; Su CM; Huang TC; Chen SJ
Acta Paediatr Taiwan; 2004; 45(3):178-80. PubMed ID: 15493740
[TBL] [Abstract][Full Text] [Related]
35. Abnormal white matter in a neurologically intact child with incontinentia pigmenti.
Bryant SA; Rutledge SL
Pediatr Neurol; 2007 Mar; 36(3):199-201. PubMed ID: 17352958
[TBL] [Abstract][Full Text] [Related]
36. Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
Fusco F; Pescatore A; Bal E; Ghoul A; Paciolla M; Lioi MB; D'Urso M; Rabia SH; Bodemer C; Bonnefont JP; Munnich A; Miano MG; Smahi A; Ursini MV
Hum Mutat; 2008 May; 29(5):595-604. PubMed ID: 18350553
[TBL] [Abstract][Full Text] [Related]
37. [Variable clinical expression of familial Incontinentia Pigmenti syndrome - presentation of three cases].
Kutkowska-Kaźmierczak A; Obersztyn E; Bonnefont JP; Rosińska-Borkowska D; Mazurczak T; Sobczyńska-Tomaszewska A; Mazurczak T
Med Wieku Rozwoj; 2008; 12(3):748-53. PubMed ID: 19305025
[TBL] [Abstract][Full Text] [Related]
38. A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti.
Steffann J; Raclin V; Smahi A; Woffendin H; Munnich A; Kenwrick SJ; Grebille AG; Benachi A; Dumez Y; Bonnefont JP; Hadj-Rabia S
Prenat Diagn; 2004 May; 24(5):384-8. PubMed ID: 15164415
[TBL] [Abstract][Full Text] [Related]
39. 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. PubMed ID: 26269396
[TBL] [Abstract][Full Text] [Related]
40. Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti.
Dangouloff-Ros V; Hadj-Rabia S; Oliveira Santos J; Bal E; Desguerre I; Kossorotoff M; An I; Smahi A; Bodemer C; Munnich A; Steffann J; Boddaert N
Mol Genet Metab; 2017 Nov; 122(3):140-144. PubMed ID: 28711407
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]