di Masi A - Search Results

1

The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation.

di Masi A, D'Apice MR, Ricordy R, Tanzarella C, Novelli G. di Masi A, et al. Cell Cycle. 2008 Jul 1;7(13):2030-7. doi: 10.4161/cc.7.13.6149. Epub 2008 Apr 11. Cell Cycle. 2008. PMID: 18604166

2

G2-phase radiation response in lymphoblastoid cell lines from Nijmegen breakage syndrome.

Antoccia A, di Masi A, Maraschio P, Stumm M, Ricordy R, Tanzarella C. Antoccia A, et al. Among authors: di masi a. Cell Prolif. 2002 Apr;35(2):93-104. doi: 10.1046/j.1365-2184.2002.00234.x. Cell Prolif. 2002. PMID: 11952644 Free PMC article.

3

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: di masi a. Clin Genet. 2003 Apr;63(4):283-90. doi: 10.1034/j.1399-0004.2003.00054.x. Clin Genet. 2003. PMID: 12702161

4

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. 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

5

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: di masi 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

6

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. Di Masi A, et al. Genet Test. 2006 Spring;10(1):24-30. doi: 10.1089/gte.2006.10.24. Genet Test. 2006. PMID: 16544999

7

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: di masi 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

8

The R215W mutation in NBS1 impairs gamma-H2AX binding and affects DNA repair: molecular bases for the severe phenotype of 657del5/R215W Nijmegen breakage syndrome patients.

di Masi A, Viganotti M, Polticelli F, Ascenzi P, Tanzarella C, Antoccia A. di Masi A, et al. Biochem Biophys Res Commun. 2008 May 9;369(3):835-40. doi: 10.1016/j.bbrc.2008.02.129. Epub 2008 Mar 6. Biochem Biophys Res Commun. 2008. PMID: 18328813

9

May a missense mutation be more deleterious than a truncating mutation?

di Masi A. di Masi A. IUBMB Life. 2008 Jan;60(1):79-81. doi: 10.1002/iub.2. IUBMB Life. 2008. PMID: 18379996 Free article. No abstract available.

10

Altered microRNA Expression Patterns in Hepatoblastoma Patients.

Magrelli A, Azzalin G, Salvatore M, Viganotti M, Tosto F, Colombo T, Devito R, Di Masi A, Antoccia A, Lorenzetti S, Maranghi F, Mantovani A, Tanzarella C, Macino G, Taruscio D. Magrelli A, et al. Among authors: di masi a. Transl Oncol. 2009 Aug 18;2(3):157-63. doi: 10.1593/tlo.09124. Transl Oncol. 2009. PMID: 19701500 Free PMC article.

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