Maraschio P - Search Results

1

A novel mutation and novel features in Nijmegen breakage syndrome.

Maraschio P, Danesino C, Antoccia A, Ricordy R, Tanzarella C, Varon R, Reis A, Besana D, Guala A, Tiepolo L. Maraschio P, et al. J Med Genet. 2001 Feb;38(2):113-7. doi: 10.1136/jmg.38.2.113. J Med Genet. 2001. PMID: 11288710 Free PMC article. No abstract available.

2

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

3

Chromosomal sensitivity to clastogenic agents and cell cycle perturbations in Nijmegen breakage syndrome lymphoblastoid cell lines.

Antoccia A, Ricordy R, Maraschio P, Prudente S, Tanzarella C. Antoccia A, et al. Among authors: maraschio p. Int J Radiat Biol. 1997 Jan;71(1):41-9. doi: 10.1080/095530097144409. Int J Radiat Biol. 1997. PMID: 9020962

4

Impaired p53-mediated DNA damage response, cell-cycle disturbance and chromosome aberrations in Nijmegen breakage syndrome lymphoblastoid cell lines.

Antoccia A, Stumm M, Saar K, Ricordy R, Maraschio P, Tanzarella C. Antoccia A, et al. Among authors: maraschio p. Int J Radiat Biol. 1999 May;75(5):583-91. doi: 10.1080/095530099140221. Int J Radiat Biol. 1999. PMID: 10374940

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: maraschio p. 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

Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome.

Maraschio P, Zuffardi O, Dalla Fior T, Tiepolo L. Maraschio P, et al. J Med Genet. 1988 Mar;25(3):173-80. doi: 10.1136/jmg.25.3.173. J Med Genet. 1988. PMID: 3351904 Free PMC article.

7

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: maraschio p. 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.

8

A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1.

Tupler R, Maraschio P, Gerardo A, Mainieri R, Lanzi G, Tiepolo L. Tupler R, et al. Among authors: maraschio p. J Med Genet. 1992 Apr;29(4):253-5. doi: 10.1136/jmg.29.4.253. J Med Genet. 1992. PMID: 1583646 Free PMC article.

9

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. Among authors: maraschio p. Genet Test. 2006 Spring;10(1):24-30. doi: 10.1089/gte.2006.10.24. Genet Test. 2006. PMID: 16544999

10

Differential expression of the ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts.

Maraschio P, Tupler R, Dainotti E, Piantanida M, Cazzola G, Tiepolo L. Maraschio P, et al. J Med Genet. 1989 Jul;26(7):452-6. doi: 10.1136/jmg.26.7.452. J Med Genet. 1989. PMID: 2746618 Free PMC article.

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