BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

247 related articles for article (PubMed ID: 28791733)

  • 1. Incontinentia pigmenti in a male (XY) infant with long-term follow up over 8 years.
    Matsuzaki Y; Rokunohe A; Minakawa S; Nomura K; Nakano H; Ito E; Sawamura D
    J Dermatol; 2018 Jan; 45(1):100-103. PubMed ID: 28791733
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.
    Kenwrick S; Woffendin H; Jakins T; Shuttleworth SG; Mayer E; Greenhalgh L; Whittaker J; Rugolotto S; Bardaro T; Esposito T; D'Urso M; Soli F; Turco A; Smahi A; Hamel-Teillac D; Lyonnet S; Bonnefont JP; Munnich A; Aradhya S; Kashork CD; Shaffer LG; Nelson DL; Levy M; Lewis RA;
    Am J Hum Genet; 2001 Dec; 69(6):1210-7. PubMed ID: 11673821
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 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.
    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]  

  • 18. 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]  

  • 19. [NEMO Delta 4-10 deletion of NEMO gene in Chinese incontinentia pigmenti cases].
    Li L; Song GW; DU JB; Liu JR; Xu FS; Liu XY; Zhang T
    Zhonghua Er Ke Za Zhi; 2005 Feb; 43(2):89-92. PubMed ID: 15833158
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 13.