BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

202 related articles for article (PubMed ID: 16088910)

  • 1. A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
    Ben-Omran TI; Cerosaletti K; Concannon P; Weitzman S; Nezarati MM
    Am J Med Genet A; 2005 Sep; 137A(3):283-7. PubMed ID: 16088910
    [TBL] [Abstract][Full Text] [Related]  

  • 2. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
    O'Driscoll M; Cerosaletti KM; Girard PM; Dai Y; Stumm M; Kysela B; Hirsch B; Gennery A; Palmer SE; Seidel J; Gatti RA; Varon R; Oettinger MA; Neitzel H; Jeggo PA; Concannon P
    Mol Cell; 2001 Dec; 8(6):1175-85. PubMed ID: 11779494
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Extreme growth failure is a common presentation of ligase IV deficiency.
    Murray JE; Bicknell LS; Yigit G; Duker AL; van Kogelenberg M; Haghayegh S; Wieczorek D; Kayserili H; Albert MH; Wise CA; Brandon J; Kleefstra T; Warris A; van der Flier M; Bamforth JS; Doonanco K; Adès L; Ma A; Field M; Johnson D; Shackley F; Firth H; Woods CG; Nürnberg P; Gatti RA; Hurles M; Bober MB; Wollnik B; Jackson AP
    Hum Mutat; 2014 Jan; 35(1):76-85. PubMed ID: 24123394
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome.
    Rucci F; Notarangelo LD; Fazeli A; Patrizi L; Hickernell T; Paganini T; Coakley KM; Detre C; Keszei M; Walter JE; Feldman L; Cheng HL; Poliani PL; Wang JH; Balter BB; Recher M; Andersson EM; Zha S; Giliani S; Terhorst C; Alt FW; Yan CT
    Proc Natl Acad Sci U S A; 2010 Feb; 107(7):3024-9. PubMed ID: 20133615
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.
    Fadda A; Butt F; Tomei S; Deola S; Lo B; Robay A; Al-Shakaki A; Al-Hajri N; Crystal R; Kambouris M; Wang E; Marincola FM; Fakhro KA; Cugno C
    BMC Med Genet; 2016 Nov; 17(1):84. PubMed ID: 27855655
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetic heterogeneity for a Nijmegen breakage-like syndrome.
    Maraschio P; Spadoni E; Tanzarella C; Antoccia A; Di Masi A; Maghnie M; Varon R; Demuth I; Tiepolo L; Danesino C
    Clin Genet; 2003 Apr; 63(4):283-90. PubMed ID: 12702161
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Nijmegen breakage syndrome (NBS).
    Chrzanowska KH; Gregorek H; Dembowska-Bagińska B; Kalina MA; Digweed M
    Orphanet J Rare Dis; 2012 Feb; 7():13. PubMed ID: 22373003
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure.
    Gruhn B; Seidel J; Zintl F; Varon R; Tönnies H; Neitzel H; Bechtold A; Hoehn H; Schindler D
    Orphanet J Rare Dis; 2007 Jan; 2():5. PubMed ID: 17224058
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Immortalization and characterization of Nijmegen Breakage syndrome fibroblasts.
    Kraakman-van der Zwet M; Overkamp WJ; Friedl AA; Klein B; Verhaegh GW; Jaspers NG; Midro AT; Eckardt-Schupp F; Lohman PH; Zdzienicka MZ
    Mutat Res; 1999 May; 434(1):17-27. PubMed ID: 10377945
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel mutation and novel features in Nijmegen breakage syndrome.
    Maraschio P; Danesino C; Antoccia A; Ricordy R; Tanzarella C; Varon R; Reis A; Besana D; Guala A; Tiepolo L
    J Med Genet; 2001 Feb; 38(2):113-7. PubMed ID: 11288710
    [No Abstract]   [Full Text] [Related]  

  • 11. Mild Nijmegen breakage syndrome phenotype due to alternative splicing.
    Varon R; Dutrannoy V; Weikert G; Tanzarella C; Antoccia A; Stöckl L; Spadoni E; Krüger LA; di Masi A; Sperling K; Digweed M; Maraschio P
    Hum Mol Genet; 2006 Mar; 15(5):679-89. PubMed ID: 16415040
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia.
    Gennery AR; Slatter MA; Bhattacharya A; Barge D; Haigh S; O'Driscoll M; Coleman R; Abinun M; Flood TJ; Cant AJ; Jeggo PA
    Clin Immunol; 2004 Nov; 113(2):214-9. PubMed ID: 15451479
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome.
    Kleier S; Herrmann M; Wittwer B; Varon R; Reis A; Horst J
    Clin Genet; 2000 May; 57(5):384-7. PubMed ID: 10852373
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Ligase IV syndrome.
    Chistiakov DA
    Adv Exp Med Biol; 2010; 685():175-85. PubMed ID: 20687505
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms.
    Girard PM; Kysela B; Härer CJ; Doherty AJ; Jeggo PA
    Hum Mol Genet; 2004 Oct; 13(20):2369-76. PubMed ID: 15333585
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Ligase IV syndrome.
    Chistiakov DA; Voronova NV; Chistiakov AP
    Eur J Med Genet; 2009; 52(6):373-8. PubMed ID: 19467349
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular and immunological characterization of DNA ligase IV deficiency.
    Jiang J; Tang W; An Y; Tang M; Wu J; Qin T; Zhao X
    Clin Immunol; 2016 Feb; 163():75-83. PubMed ID: 26762768
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.
    Berardinelli F; di Masi A; Salvatore M; Banerjee S; Myung K; De Villartay JP; Revy P; Plebani A; Soresina A; Taruscio D; Tanzarella C; Antoccia A
    Eur J Med Genet; 2007; 50(3):176-87. PubMed ID: 17395558
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel mutation in a family with DNA ligase IV deficiency syndrome.
    Unal S; Cerosaletti K; Uckan-Cetinkaya D; Cetin M; Gumruk F
    Pediatr Blood Cancer; 2009 Sep; 53(3):482-4. PubMed ID: 19418549
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly.
    Seeman P; Gebertová K; Paderová K; Sperling K; Seemanová E
    Pediatr Neurol; 2004 Mar; 30(3):195-200. PubMed ID: 15033202
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.