Piane M - Search Results

1

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

Rubattu S, Bozzao C, Pennacchini E, Pagannone E, Musumeci BM, Piane M, Germani A, Savio C, Francia P, Volpe M, Autore C, Chessa L. Rubattu S, et al. Among authors: piane m. Int J Mol Sci. 2016 Jul 30;17(8):1239. doi: 10.3390/ijms17081239. Int J Mol Sci. 2016. PMID: 27483260 Free PMC article.

2

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.

Stolarova L, Kleiblova P, Zemankova P, Stastna B, Janatova M, Soukupova J, Achatz MI, Ambrosone C, Apostolou P, Arun BK, Auer P, Barnard M, Bertelsen B; Biobank Japan; Blok MJ, Boddicker N, Brunet J, Burnside ES, Calvello M, Campbell I, Chan SH, Chen F, Chiang JB, Coppa A, Cortesi L, Crujeiras-González A; Consortium CZECANCA; De Leeneer K, De Putter R, DePersia A, Devereux L, Domchek S, Efremidis A, Engel C, Ernst C, Evans DGR, Feliubadaló L, Fostira F, Fuentes-Ríos O, Gómez-García EB, González S, Haiman C, Hansen TVO, Hauke J, Hodge J, Hu C, Huang H, Ishak NDB, Iwasaki Y, Konstantopoulou I, Kraft P, Lacey J, Lázaro C, Li N, Lim WK, Lindstrom S, Lori A, Martinez E, Martins A, Matsuda K, Matullo G, McInerny S, Michailidou K, Montagna M, Monteiro ANA, Mori L, Nathanson K, Neuhausen SL, Nevanlinna H, Olson JE, Palmer J, Pasini B, Patel A, Piane M, Poppe B, Radice P, Renieri A, Resta N, Richardson ME, Rosseel T, Ruddy KJ, Santamariña M, Dos Santos ES, Teras L, Toland AE, Trentham-Dietz A, Vachon CM, Volk AE, Weber-Lassalle N, Weitzel JN, Wiesmuller L, Winham S, Yadav S, Yannoukakos D, Yao S, Zampiga V, Zethoven M, Zhang ZW, Zima T, Spurdle AB, Vega A, Rossing M, Del Valle J, De… See abstract for full author list ➔ Stolarova L, et al. Among authors: piane m. Clin Cancer Res. 2023 Aug 15;29(16):3037-3050. doi: 10.1158/1078-0432.CCR-23-0212. Clin Cancer Res. 2023. PMID: 37449874 Free PMC article.

3

Prenatal CFAP53-related laterality defect: case report and review of the literature.

Mastromoro G, Guadagnolo D, Novelli A, Torres B, Piane M, Magliozzi M, Bernardini L, Ventriglia F, Pizzuti A, Petrucci S. Mastromoro G, et al. Among authors: piane m. J Matern Fetal Neonatal Med. 2023 Dec;36(1):2201653. doi: 10.1080/14767058.2023.2201653. J Matern Fetal Neonatal Med. 2023. PMID: 37041101 Free article. Review.

4

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

5

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

6

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

7

The novel human gene aprataxin is directly involved in DNA single-strand-break repair.

Mosesso P, Piane M, Palitti F, Pepe G, Penna S, Chessa L. Mosesso P, et al. Among authors: piane m. Cell Mol Life Sci. 2005 Feb;62(4):485-91. doi: 10.1007/s00018-004-4441-0. Cell Mol Life Sci. 2005. PMID: 15719174 Free article.

8

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.

9

Control of cell respiration by nitric oxide in Ataxia Telangiectasia lymphoblastoid cells.

Masci A, Mastronicola D, Arese M, Piane M, De Amicis A, Blanck TJ, Chessa L, Sarti P. Masci A, et al. Among authors: piane m. Biochim Biophys Acta. 2008 Jan;1777(1):66-73. doi: 10.1016/j.bbabio.2007.10.016. Epub 2007 Nov 9. Biochim Biophys Acta. 2008. PMID: 18047827 Free article.

10

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

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