Piane M - Search Results

1

Different clinical and immunological presentation of ataxia-telangiectasia within the same family.

Soresina A, Meini A, Lougaris V, Cattaneo G, Pellegrino S, Piane M, Darra F, Plebani A. Soresina A, et al. Among authors: piane m. Neuropediatrics. 2008 Feb;39(1):43-5. doi: 10.1055/s-2008-1076736. Neuropediatrics. 2008. PMID: 18504682

2

Somatic NGS Analysis of DNA Damage Response (DDR) Genes ATM, MRE11A, RAD50, NBN, and ATR in Locally Advanced Rectal Cancer Treated with Neoadjuvant Chemo-Radiotherapy.

Montori A, Germani A, Ferri M, Milano A, Ranalli TV, Piane M, Pilozzi E. Montori A, et al. Among authors: piane m. Biomedicines. 2022 Dec 13;10(12):3247. doi: 10.3390/biomedicines10123247. Biomedicines. 2022. PMID: 36552003 Free PMC article.

3

MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.

Delia D, Piane M, Buscemi G, Savio C, Palmeri S, Lulli P, Carlessi L, Fontanella E, Chessa L. Delia D, et al. Among authors: piane m. Hum Mol Genet. 2004 Sep 15;13(18):2155-63. doi: 10.1093/hmg/ddh221. Epub 2004 Jul 21. Hum Mol Genet. 2004. PMID: 15269180

4

DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

Magliozzi M, Piane M, Torrente I, Sinibaldi L, Rizzo G, Savio C, Lulli P, De Luca A, Dallapiccola B, Chessa L. Magliozzi M, et al. Among authors: piane m. Dis Markers. 2006;22(4):257-64. doi: 10.1155/2006/740493. Dis Markers. 2006. PMID: 17124347 Free PMC article.

5

Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.

Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B. Chessa L, et al. Among authors: piane m. Ann Hum Genet. 2009 Sep;73(Pt 5):532-9. doi: 10.1111/j.1469-1809.2009.00535.x. Ann Hum Genet. 2009. PMID: 19691550

6

p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.

Prodosmo A, De Amicis A, Nisticò C, Gabriele M, Di Rocco G, Monteonofrio L, Piane M, Cundari E, Chessa L, Soddu S. Prodosmo A, et al. Among authors: piane m. J Clin Invest. 2013 Mar;123(3):1335-42. doi: 10.1172/JCI67289. Epub 2013 Feb 1. J Clin Invest. 2013. PMID: 23454770 Free PMC article.

7

Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders.

Piane M, Molinaro A, Soresina A, Costa S, Maffeis M, Germani A, Pinelli L, Meschini R, Plebani A, Chessa L, Micheli R. Piane M, et al. J Neurol Sci. 2016 Dec 15;371:48-53. doi: 10.1016/j.jns.2016.10.014. Epub 2016 Oct 13. J Neurol Sci. 2016. PMID: 27871447

8

Genotype-phenotype relationships in ataxia-telangiectasia and variants.

Gilad S, Chessa L, Khosravi R, Russell P, Galanty Y, Piane M, Gatti RA, Jorgensen TJ, Shiloh Y, Bar-Shira A. Gilad S, et al. Among authors: piane m. Am J Hum Genet. 1998 Mar;62(3):551-61. doi: 10.1086/301755. Am J Hum Genet. 1998. PMID: 9497252 Free PMC article.

9

Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays.

Chessa L, Piane M, Prudente S, Carducci C, Mazzilli MC, Pachti A, Negrini M, Narducci MG, Russo G, Frati L. Chessa L, et al. Among authors: piane m. Prenat Diagn. 1999 Jun;19(6):542-5. doi: 10.1002/(sici)1097-0223(199906)19:6<542::aid-pd586>3.0.co;2-l. Prenat Diagn. 1999. PMID: 10416970

10

Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia.

Saviozzi S, Saluto A, Piane M, Prudente S, Migone N, DeMarchi M, Brusco A, Chessa L. Saviozzi S, et al. Among authors: piane m. Hum Mutat. 2003 Apr;21(4):450. doi: 10.1002/humu.9129. Hum Mutat. 2003. PMID: 12655570

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