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2003 1
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51 results

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Page 1
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.
Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.
Micolonghi C, Perrone F, Fabiani M, Caroselli S, Savio C, Pizzuti A, Germani A, Visco V, Petrucci S, Rubattu S, Piane M. Micolonghi C, et al. Among authors: piane m. Int J Mol Sci. 2024 Sep 10;25(18):9787. doi: 10.3390/ijms25189787. Int J Mol Sci. 2024. PMID: 39337275 Free PMC article. Review.
Genetics of migraine and pharmacogenomics: some considerations.
Piane M, Lulli P, Farinelli I, Simeoni S, De Filippis S, Patacchioli FR, Martelletti P. Piane M, et al. J Headache Pain. 2007 Dec;8(6):334-9. doi: 10.1007/s10194-007-0427-2. Epub 2007 Dec 5. J Headache Pain. 2007. PMID: 18058067 Free PMC article. Review.
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.
MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.
Fabiani M, Micolonghi C, Caroselli S, Savio C, Petrucci S, Tini G, Musumeci B, Pagannone E, De Fazio L, Germani A, Visco V, Pizzuti A, Veneziano L, Marchionni E, Mango R, Pezzoli L, Bottillo I, Lucca C, Scatigno A, Goisis L, Cappuccini F, Ciccone MP, Ballerini A, Gozzini A, Onofri V, Cristalli CP, Latini A, D'Angelantonio D, Gualandi F, Tortora G, Magliozzi M, Novelli A, Rossi C, Grammatico P, Sangiuolo F, Girolami F, Iascone M, Olivotto I, Autore C, Rubattu S, Piane M. Fabiani M, et al. Among authors: piane m. Eur J Hum Genet. 2025 May 31. doi: 10.1038/s41431-025-01873-2. Online ahead of print. Eur J Hum Genet. 2025. PMID: 40450116
Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay.
Concolino P, De Paolis E, Rinelli M, Maneri G, Brisighelli F, Trozzi R, Duranti S, Giacò L, Piane M, Preziosi A, Panfili A, Scambia G, Nero C, De Bonis M, Minucci A. Concolino P, et al. Among authors: piane m. Ann Lab Med. 2024 Nov 1;44(6):617-620. doi: 10.3343/alm.2024.0051. Epub 2024 May 31. Ann Lab Med. 2024. PMID: 38826062 Free PMC article. No abstract available.
Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort.
Caroselli S, Fabiani M, Micolonghi C, Savio C, Tini G, Musumeci B, Pagannone E, Germani A, Libi F, Visco V, Pizzuti A, Autore C, Petrucci S, Rubattu S, Piane M. Caroselli S, et al. Among authors: piane m. Ann Lab Med. 2025 Jan 1;45(1):96-100. doi: 10.3343/alm.2024.0201. Epub 2024 Oct 2. Ann Lab Med. 2025. PMID: 39355877 Free PMC article.
51 results