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5. Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks. Digweed M; Sperling K DNA Repair (Amst); 2004; 3(8-9):1207-17. PubMed ID: 15279809 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. [Nijmegen Breakage syndrome]. Erdos M; Tóth B; Juhász P; Mahdi M; Maródi L Orv Hetil; 2010 Apr; 151(16):665-73. PubMed ID: 20353920 [TBL] [Abstract][Full Text] [Related]
8. 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]
10. 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]
11. Diagnostic and therapeutic approach to children with Nijmegen breakage syndrome in relation to development of lymphoid malignancies. Filipiuk A; Kozakiewicz A; Kośmider K; Lejman M; Zawitkowska J Ann Agric Environ Med; 2022 Jun; 29(2):207-214. PubMed ID: 35767752 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. [Nijmegen breakage syndrome associated with pulmonary lymphoma]. Moreno Pérez D; García Martín FJ; Vázquez López R; Pérez Ruiz E; González Valentín ME; Weil Lara B; Jurado Ortiz A An Esp Pediatr; 2002 Dec; 57(6):574-7. PubMed ID: 12466083 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. Nijmegen breakage syndrome and functions of the responsible protein, NBS1. Antoccia A; Kobayashi J; Tauchi H; Matsuura S; Komatsu K Genome Dyn; 2006; 1():191-205. PubMed ID: 18724061 [TBL] [Abstract][Full Text] [Related]
16. Radiosensitivity in a newborn with microcephalia: A case report of Nijmegen breakage syndrome. Cakmak Genc G; Yilmaz B; Karakas Celik S; Aydemir C; Eroz R; Dursun A Birth Defects Res; 2024 May; 116(5):e2346. PubMed ID: 38761025 [TBL] [Abstract][Full Text] [Related]
17. Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism. Krawczyk MA; Styczewska M; Birkholz-Walerzak D; Iliszko M; Lipska-Zietkiewicz BS; Kosiak W; Irga-Jaworska N; Izycka-Swieszewska E; Bien E J Clin Res Pediatr Endocrinol; 2022 Jun; 14(2):251-257. PubMed ID: 34544220 [TBL] [Abstract][Full Text] [Related]
18. Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers. Di Masi A; Antoccia A; Spadoni E; Varon-Mateeva R; Maraschio P; Tanzarella C Genet Test; 2006; 10(1):24-30. PubMed ID: 16544999 [TBL] [Abstract][Full Text] [Related]
19. Nijmegen breakage syndrome: the clearance pathway for mutant nibrin protein is allele specific. Salewsky B; Wessendorf P; Hirsch D; Krenzlin H; Digweed M Gene; 2013 May; 519(2):217-21. PubMed ID: 23458873 [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]