Bibliografia

Nota: la presente non è da intendersi come una bibliografia completa della NBS. Di seguito è riportato l'elenco degli articoli utilizzati durante la preparazione di questo sito web. Molti altri lavori, non citati qui, hanno ugualmente contribuito allo studio e alla comprensione della NBS.



Barth E, Demori E, Pecile V, Zanazzo GA, Malorgio C, Tamaro P.
Anthracyclines in Nijmegen breakage syndrome.
Med Pediatr Oncol. 2003;40:122-4.

Cerosaletti KM, Lange E, Stringham HM, Weemaes CM, Smeets D, Solder B, Belohradsky BH, Taylor AM, Karnes P, Elliott A, Komatsu K, Gatti RA, Boehnke M, Concannon P.
Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype.
Am J Hum Genet. 1998;63:125-34.

Chrzanowska KH, Kleijer WJ, Krajewska-Walasek M, Bialecka M, Gutkowska A, Goryluk-Kozakiewicz B, Michalkiewicz J, Stachowski J, Gregorek H, Lyson-Wojciechowska G, et al.
Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome.
Am J Med Genet. 1995;57:462-71. Review.

Chrzanowska K.H.
Nijmegen Breakage Syndrome.
In: www.emedicine.com. Last updated: February 26, 2007.

The International Nijmegen Breakage Syndrome Study Group.
Nijmegen breakage syndrome.
Arch Dis Child. 2000;82:400-6. Review.

Maraschio P, Peretti D, Lambiase S, Lo Curto F, Caufin D, Gargantini L, Minoli L, Zuffardi O.
A new chromosome instability disorder.
Clin Genet. 1986;30:353-65

Maraschio P, Danesino C, Antoccia A, Ricordy R, Tanzarella C, Varon R, Reis A, Besana D, Guala A, Tiepolo L.
A novel mutation and novel features in Nijmegen breakage syndrome.
J Med Genet. 2001;38:113-7.

Tupler R, Marseglia GL, Stefanini M, Prosperi E, Chessa L, Nardo T, Marchi A, Maraschio P.
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity.
J Med Genet. 1997;34:196-202.

Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanova E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P, Reis A.
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.
Cell. 1998;93:467-76.

Varon R, Seemanova E, Chrzanowska K, Hnateyko O, Piekutowska-Abramczuk D, Krajewska-Walasek M, Sykut-Cegielska J, Sperling K, Reis A.
Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations.
Eur J Hum Genet. 2000;8:900-2.

Weemaes CM, Hustinx TW, Scheres JM, van Munster PJ, Bakkeren JA, Taalman RD.
A new chromosomal instability disorder: the Nijmegen breakage syndrome.
Acta Paediatr Scand. 1981;70:557-64.