BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

156 related articles for article (PubMed ID: 19105185)

  • 1. Fertility defects revealing germline biallelic nonsense NBN mutations.
    Warcoin M; Lespinasse J; Despouy G; Dubois d'Enghien C; Laugé A; Portnoï MF; Christin-Maitre S; Stoppa-Lyonnet D; Stern MH
    Hum Mutat; 2009 Mar; 30(3):424-30. PubMed ID: 19105185
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Cancer risk of heterozygotes with the NBN founder mutation.
    Seemanová E; Jarolim P; Seeman P; Varon R; Digweed M; Swift M; Sperling K
    J Natl Cancer Inst; 2007 Dec; 99(24):1875-80. PubMed ID: 18073374
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.
    Ciara E; Piekutowska-Abramczuk D; Popowska E; Grajkowska W; Barszcz S; Perek D; Dembowska-Bagińska B; Perek-Polnik M; Kowalewska E; Czajńska A; Syczewska M; Czornak K; Krajewska-Walasek M; Roszkowski M; Chrzanowska KH
    Acta Neuropathol; 2010 Mar; 119(3):325-34. PubMed ID: 19908051
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in the Nijmegen breakage syndrome gene in medulloblastomas.
    Huang J; Grotzer MA; Watanabe T; Hewer E; Pietsch T; Rutkowski S; Ohgaki H
    Clin Cancer Res; 2008 Jul; 14(13):4053-8. PubMed ID: 18593981
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome.
    Lins S; Kim R; Krüger L; Chrzanowska KH; Seemanova E; Digweed M
    Gene; 2009 Nov; 447(1):12-7. PubMed ID: 19635536
    [TBL] [Abstract][Full Text] [Related]  

  • 6. DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility.
    Fiévet A; Bellanger D; Zahed L; Burglen L; Derrien AC; Dubois d'Enghien C; Lespinasse J; Parfait B; Pedespan JM; Rieunier G; Stoppa-Lyonnet D; Stern MH
    Hum Mutat; 2020 Mar; 41(3):608-618. PubMed ID: 31729086
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation.
    Gładkowska-Dura M; Dzierzanowska-Fangrat K; Dura WT; van Krieken JH; Chrzanowska KH; van Dongen JJ; Langerak AW
    J Pathol; 2008 Nov; 216(3):337-44. PubMed ID: 18788073
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis.
    Dumon-Jones V; Frappart PO; Tong WM; Sajithlal G; Hulla W; Schmid G; Herceg Z; Digweed M; Wang ZQ
    Cancer Res; 2003 Nov; 63(21):7263-9. PubMed ID: 14612522
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Heterozygous carriers of Slavic mutation 657del5 of NBN gene in patients with colorectal cancer].
    Seemanová E; Hoch J; Seeman P
    Cas Lek Cesk; 2011; 150(2):97-9. PubMed ID: 21560448
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability.
    Seemanová E; Sperling K; Neitzel H; Varon R; Hadac J; Butova O; Schröck E; Seeman P; Digweed M
    J Med Genet; 2006 Mar; 43(3):218-24. PubMed ID: 16033915
    [TBL] [Abstract][Full Text] [Related]  

  • 11. MRI evidence of white matter damage in a mouse model of Nijmegen breakage syndrome.
    Assaf Y; Galron R; Shapira I; Nitzan A; Blumenfeld-Katzir T; Solomon AS; Holdengreber V; Wang ZQ; Shiloh Y; Barzilai A
    Exp Neurol; 2008 Jan; 209(1):181-91. PubMed ID: 17976584
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.
    Dutrannoy V; Demuth I; Baumann U; Schindler D; Konrat K; Neitzel H; Gillessen-Kaesbach G; Radszewski J; Rothe S; Schellenberger MT; Nürnberg G; Nürnberg P; Teik KW; Nallusamy R; Reis A; Sperling K; Digweed M; Varon R
    Hum Mutat; 2010 Sep; 31(9):1059-68. PubMed ID: 20597108
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutational inactivation of the nijmegen breakage syndrome gene (NBS1) in glioblastomas is associated with multiple TP53 mutations.
    Watanabe T; Nobusawa S; Lu S; Huang J; Mittelbronn M; Ohgaki H
    J Neuropathol Exp Neurol; 2009 Feb; 68(2):210-5. PubMed ID: 19151620
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Nijmegen breakage syndrome associated with porokeratosis.
    Wolf EK; Shwayder TA
    Pediatr Dermatol; 2009; 26(1):106-8. PubMed ID: 19250427
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of the interactors of human nibrin (NBN) and of its 26 kDa and 70 kDa fragments arising from the NBN 657del5 founder mutation.
    Cilli D; Mirasole C; Pennisi R; Pallotta V; D'Alessandro A; Antoccia A; Zolla L; Ascenzi P; di Masi A
    PLoS One; 2014; 9(12):e114651. PubMed ID: 25485873
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Mutations in tumor suppressor gene NBS1 in adult patients with malignancies].
    Seemanová E; Hoch J; Herzogová J; Kawaciuk I; Janda J; Kohoutová M; Seeman P; Varon R; Sperling K
    Cas Lek Cesk; 2006; 145(3):201-3. PubMed ID: 16634478
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The clinical manifestation of a defective response to DNA double-strand breaks as exemplified by Nijmegen breakage syndrome.
    Demuth I; Digweed M
    Oncogene; 2007 Dec; 26(56):7792-8. PubMed ID: 18066092
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein.
    Krüger L; Demuth I; Neitzel H; Varon R; Sperling K; Chrzanowska KH; Seemanova E; Digweed M
    Carcinogenesis; 2007 Jan; 28(1):107-11. PubMed ID: 16840438
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. I171V germline mutation in the NBS1 gene significantly increases risk of breast cancer.
    Roznowski K; Januszkiewicz-Lewandowska D; Mosor M; Pernak M; Litwiniuk M; Nowak J
    Breast Cancer Res Treat; 2008 Jul; 110(2):343-8. PubMed ID: 17899368
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.