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Page 1
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. Maraschio P, et al. Among authors: antoccia a. Clin Genet. 2003 Apr;63(4):283-90. doi: 10.1034/j.1399-0004.2003.00054.x. Clin Genet. 2003. PMID: 12702161
Chromosome instability and nibrin protein variants in NBS heterozygotes.
Tanzanella C, Antoccia A, Spadoni E, di Masi A, Pecile V, Demori E, Varon R, Marseglia GL, Tiepolo L, Maraschio P. Tanzanella C, et al. Among authors: antoccia a. Eur J Hum Genet. 2003 Apr;11(4):297-303. doi: 10.1038/sj.ejhg.5200962. Eur J Hum Genet. 2003. PMID: 12708449
Gene expression and apoptosis induction in p53-heterozygous irradiated mice.
di Masi A, Antoccia A, Dimauro I, Argentino-Storino A, Mosiello A, Mango R, Novelli G, Tanzarella C. di Masi A, et al. Among authors: antoccia a. Mutat Res. 2006 Feb 22;594(1-2):49-62. doi: 10.1016/j.mrfmmm.2005.07.014. Epub 2005 Sep 15. Mutat Res. 2006. PMID: 16169021
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. Varon R, et al. Among authors: antoccia a. Hum Mol Genet. 2006 Mar 1;15(5):679-89. doi: 10.1093/hmg/ddi482. Epub 2006 Jan 13. Hum Mol Genet. 2006. PMID: 16415040
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. Berardinelli F, et al. Among authors: antoccia a. Eur J Med Genet. 2007 May-Jun;50(3):176-87. doi: 10.1016/j.ejmg.2007.01.006. Epub 2007 Feb 21. Eur J Med Genet. 2007. PMID: 17395558
91 results