128 related articles for article (PubMed ID: 11859566)
1. Incontinentia pigmenti: the first single gene disorder due to disrupted NF-kappa B function.
Kenwrick S
Ernst Schering Res Found Workshop; 2002; (36):95-107. PubMed ID: 11859566
[No Abstract] [Full Text] [Related]
2. NEMO/IKK gamma: linking NF-kappa B to human disease.
Courtois G; Smahi A; Israël A
Trends Mol Med; 2001 Oct; 7(10):427-30. PubMed ID: 11597506
[No Abstract] [Full Text] [Related]
3. 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. PubMed ID: 11047757
[TBL] [Abstract][Full Text] [Related]
4. Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother.
Dupuis-Girod S; Corradini N; Hadj-Rabia S; Fournet JC; Faivre L; Le Deist F; Durand P; Döffinger R; Smahi A; Israel A; Courtois G; Brousse N; Blanche S; Munnich A; Fischer A; Casanova JL; Bodemer C
Pediatrics; 2002 Jun; 109(6):e97. PubMed ID: 12042591
[TBL] [Abstract][Full Text] [Related]
5. The consequences of incontinentia pigmenti.
Greaves S
Nat Cell Biol; 2000 Aug; 2(8):E144. PubMed ID: 10934485
[No Abstract] [Full Text] [Related]
6. Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.
Ohnishi H; Kishimoto Y; Taguchi T; Kawamoto N; Nakama M; Kawai T; Nakayama M; Ohara O; Orii K; Fukao T
J Clin Immunol; 2017 Aug; 37(6):529-538. PubMed ID: 28702714
[TBL] [Abstract][Full Text] [Related]
7. [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; 145(45):2178-82. PubMed ID: 11727618
[TBL] [Abstract][Full Text] [Related]
8. NF-kappa B defects in humans: the NEMO/incontinentia pigmenti connection.
Courtois G; Israël A
Sci STKE; 2000 Nov; 2000(58):pe1. PubMed ID: 11752619
[TBL] [Abstract][Full Text] [Related]
9. 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; 99(2):172-7. PubMed ID: 11241484
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 12140463
[TBL] [Abstract][Full Text] [Related]
11. The NF-kappaB signaling pathway in human genetic diseases.
Courtois G
Cell Mol Life Sci; 2005 Aug; 62(15):1682-91. PubMed ID: 15924263
[TBL] [Abstract][Full Text] [Related]
12. An atypical case of incontinentia pigmenti with a hypomorphic variant.
Guo Y; Bu W; Jia W; Zhang Y; Li C
Pediatr Dermatol; 2024; 41(2):351-353. PubMed ID: 37853991
[TBL] [Abstract][Full Text] [Related]
13. A male infant with anhidrotic ectodermal dysplasia/immunodeficiency accompanied by incontinentia pigmenti and a mutation in the NEMO pathway.
Chang TT; Behshad R; Brodell RT; Gilliam AC
J Am Acad Dermatol; 2008 Feb; 58(2):316-20. PubMed ID: 18222329
[TBL] [Abstract][Full Text] [Related]
14. [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]
15. 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 Oct; 160(2):163-71. PubMed ID: 26117626
[TBL] [Abstract][Full Text] [Related]
16. 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; 405(6785):466-72. PubMed ID: 10839543
[TBL] [Abstract][Full Text] [Related]
17. Incontinentia pigmenti in adults.
Scheuerle AE
Am J Med Genet A; 2019 Aug; 179(8):1415-1419. PubMed ID: 31119873
[TBL] [Abstract][Full Text] [Related]
18. NEMO/IKK gamma-deficient mice model incontinentia pigmenti.
Schmidt-Supprian M; Bloch W; Courtois G; Addicks K; Israël A; Rajewsky K; Pasparakis M
Mol Cell; 2000 Jun; 5(6):981-92. PubMed ID: 10911992
[TBL] [Abstract][Full Text] [Related]
19. [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; 149(30):1682-5. PubMed ID: 16104114
[TBL] [Abstract][Full Text] [Related]
20. Nail dystrophy, an unusual presentation of incontinentia pigmenti.
Nicolaou N; Graham-Brown RA
Br J Dermatol; 2003 Dec; 149(6):1286-8. PubMed ID: 14674911
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
