430 related articles for article (PubMed ID: 30157809)
1. Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome.
Ghedira N; Lagarde A; Ben Ameur K; Elouej S; Sakka R; Kerkeni E; Chioukh FZ; Olschwang S; Desvignes JP; Abdelhak S; Delague V; Lévy N; Monastiri K; De Sandre-Giovannoli A
BMC Pediatr; 2018 Aug; 18(1):286. PubMed ID: 30157809
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. [Incontinentia pigmenti. Four patients with different clinical manifestations].
Llano-Rivas I; Soler-Sánchez T; Málaga-Diéguez I; Fernández-Toral J
An Pediatr (Barc); 2012 Mar; 76(3):156-60. PubMed ID: 22036144
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. [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]
8. 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]
9. High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti: a case report.
Wolf DS; Golden WC; Hoover-Fong J; Applegate C; Cohen BA; Germain-Lee EL; Goldberg MF; Crawford TO; Gauda EB
J Child Neurol; 2015 Jan; 30(1):100-6. PubMed ID: 24682289
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
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. PubMed ID: 21286028
[TBL] [Abstract][Full Text] [Related]
13. An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation.
Mou W; Zhao Z; Gao L; Fu L; Li J; Jiao A; Peng Y; Yu T; Guo Y; Chen L; Wang H; Liu J; Qin Q; Xu B; Liu X; He J; Gui J
J Clin Immunol; 2023 Nov; 43(8):2165-2180. PubMed ID: 37831401
[TBL] [Abstract][Full Text] [Related]
14. [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]
15. 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. PubMed ID: 23398170
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. A rare cause of neonatal seizure: incontinentia pigmenti.
Türkmen M; Eliaçik K; Temoçin K; Savk E; Tosun A; Dikicioğlu E
Turk J Pediatr; 2007; 49(3):327-30. PubMed ID: 17990592
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
