169 related articles for article (PubMed ID: 24073555)
1. 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; 141(7-8):490-4. PubMed ID: 24073555
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Incontinentia pigmenti diagnostic criteria update.
Minić S; Trpinac D; Obradović M
Clin Genet; 2014 Jun; 85(6):536-42. PubMed ID: 23802866
[TBL] [Abstract][Full Text] [Related]
5. Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.
Bal E; Laplantine E; Hamel Y; Dubosclard V; Boisson B; Pescatore A; Picard C; Hadj-Rabia S; Royer G; Steffann J; Bonnefont JP; Ursini VM; Vabres P; Munnich A; Casanova JL; Bodemer C; Weil R; Agou F; Smahi A
J Allergy Clin Immunol; 2017 Dec; 140(6):1671-1682.e2. PubMed ID: 28249776
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Improved molecular diagnosis of the common recurrent intragenic deletion mutation in IKBKG in a Filipino family with incontinentia pigmenti.
Guevara BE; Hsu CK; Liu L; Feast A; Alabado KL; Lacuesta MP; Lee JY; McGrath JA
Australas J Dermatol; 2016 May; 57(2):150-3. PubMed ID: 26437686
[TBL] [Abstract][Full Text] [Related]
8. Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males.
Fusco F; Conte MI; Diociaiuti A; Bigoni S; Branda MF; Ferlini A; El Hachem M; Ursini MV
Pediatrics; 2017 Sep; 140(3):. PubMed ID: 28794079
[TBL] [Abstract][Full Text] [Related]
9. Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report.
Kawai M; Sugimoto A; Ishihara Y; Kato T; Kurahashi H
BMC Pediatr; 2022 Jun; 22(1):378. PubMed ID: 35768795
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 24339369
[TBL] [Abstract][Full Text] [Related]
11. 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; 21(6):1260-71. PubMed ID: 22121116
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 20434027
[TBL] [Abstract][Full Text] [Related]
13. Incontinentia pigmenti with ultrastructurally disordered leucocytes.
Minić S; Trpinac D; Obradović M; Novotny GE; Gabriel HD; Kuhn M
J Clin Pathol; 2010 Jul; 63(7):657-9. PubMed ID: 20591917
[TBL] [Abstract][Full Text] [Related]
14. Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene.
Kim HY; Song HB; Kim KH; Kim JH; Chae JH; Kim MJ; Seong MW; Ko JM
Exp Dermatol; 2021 May; 30(5):676-683. PubMed ID: 33655605
[TBL] [Abstract][Full Text] [Related]
15. Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti.
Fusco F; Paciolla M; Pescatore A; Lioi MB; Ayuso C; Faravelli F; Gentile M; Zollino M; D'Urso M; Miano MG; Ursini MV
Hum Mutat; 2009 Sep; 30(9):1284-91. PubMed ID: 19603533
[TBL] [Abstract][Full Text] [Related]
16. A novel IKBKG mutation in a patient with incontinentia pigmenti and features of hepatic ciliopathy.
Danescu S; Has C; Baican C; Müller T; Baican A
Australas J Dermatol; 2018 Nov; 59(4):e262-e265. PubMed ID: 29520766
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 25944529
[TBL] [Abstract][Full Text] [Related]
18. A novel inhibitor of nuclear factor kappa-B kinase subunit gamma mutation identified in an incontinentia pigmenti patient with syndromic tooth agenesis.
Sun S; Li F; Liu Y; Qu H; Wong SW; Zeng L; Yu M; Feng H; Liu H; Han D
Arch Oral Biol; 2019 May; 101():100-107. PubMed ID: 30913450
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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. PubMed ID: 20890435
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]