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Page 1
DNA Methylation in the Diagnosis of Monogenic Diseases.
Cerrato F, Sparago A, Ariani F, Brugnoletti F, Calzari L, Coppedè F, De Luca A, Gervasini C, Giardina E, Gurrieri F, Lo Nigro C, Merla G, Miozzo M, Russo S, Sangiorgi E, Sirchia SM, Squeo GM, Tabano S, Tabolacci E, Torrente I, Genuardi M, Neri G, Riccio A. Cerrato F, et al. Among authors: brugnoletti f. Genes (Basel). 2020 Mar 26;11(4):355. doi: 10.3390/genes11040355. Genes (Basel). 2020. PMID: 32224912 Free PMC article. Review.
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.
Hendricks LAJ, Hoogerbrugge N, Venselaar H, Aretz S, Spier I, Legius E, Brems H, de Putter R, Claes KBM, Evans DG, Woodward ER, Genuardi M, Brugnoletti F, van Ierland Y, Dijke K, Tham E, Tesi B, Schuurs-Hoeijmakers JHM, Branchaud M, Salvador H, Jahn A, Schnaiter S, Anastasiadou VC, Brunet J, Oliveira C, Roht L, Blatnik A, Irmejs A; PTEN Study Group; Mensenkamp AR, Vos JR. Hendricks LAJ, et al. Among authors: brugnoletti f. Eur J Med Genet. 2022 Dec;65(12):104632. doi: 10.1016/j.ejmg.2022.104632. Epub 2022 Oct 18. Eur J Med Genet. 2022. PMID: 36270489 Free article.
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2.
Hinić S, Cybulski C, Van der Post RS, Vos JR, Schuurs-Hoeijmakers J, Brugnoletti F, Koene S, Vreede L, van Zelst-Stams WAG, Kets CM, Haadsma M, Spruijt L, Wevers MR, Evans DG, Wimmer K, Schnaiter S, Volk AE, Möllring A, de Putter R, Soikkonen L, Kahre T, Tooming M, de Jong MM, Vaz F, Mensenkamp AR, Genuardi M, Lubinski J, Ligtenberg M, Hoogerbrugge N, de Voer RM. Hinić S, et al. Among authors: brugnoletti f. Genet Med. 2024 Feb 13;26(5):101101. doi: 10.1016/j.gim.2024.101101. Online ahead of print. Genet Med. 2024. PMID: 38362852 Free article.
RADX Gene Variant May Predispose to Familial Asperger Syndrome.
Azzarà A, Rumore R, Brugnoletti F, Tabolacci E, Bottillo I, Sangiorgi E, Gurrieri F. Azzarà A, et al. Among authors: brugnoletti f. Genes (Basel). 2023 Jan 23;14(2):301. doi: 10.3390/genes14020301. Genes (Basel). 2023. PMID: 36833228 Free PMC article.
CRLF2 overexpression identifies an unfavourable subgroup of adult B-cell precursor acute lymphoblastic leukemia lacking recurrent genetic abnormalities.
Chiaretti S, Brugnoletti F, Messina M, Paoloni F, Fedullo AL, Piciocchi A, Elia L, Vitale A, Mauro E, Ferrara F, De Fabritiis P, Luppi M, Ronco F, De Propris MS, Raponi S, Kronnie GT, Vignetti M, Guarini A, Foà R. Chiaretti S, et al. Among authors: brugnoletti f. Leuk Res. 2016 Feb;41:36-42. doi: 10.1016/j.leukres.2015.11.018. Epub 2015 Dec 23. Leuk Res. 2016. PMID: 26754556
Prognostic and therapeutic role of targetable lesions in B-lineage acute lymphoblastic leukemia without recurrent fusion genes.
Messina M, Chiaretti S, Wang J, Fedullo AL, Peragine N, Gianfelici V, Piciocchi A, Brugnoletti F, Di Giacomo F, Pauselli S, Holmes AB, Puzzolo MC, Ceglie G, Apicella V, Mancini M, Te Kronnie G, Testi AM, Vitale A, Vignetti M, Guarini A, Rabadan R, Foà R. Messina M, et al. Among authors: brugnoletti f. Oncotarget. 2016 Mar 22;7(12):13886-901. doi: 10.18632/oncotarget.7356. Oncotarget. 2016. PMID: 26883104 Free PMC article.
TP53 mutations are frequent in adult acute lymphoblastic leukemia cases negative for recurrent fusion genes and correlate with poor response to induction therapy.
Chiaretti S, Brugnoletti F, Tavolaro S, Bonina S, Paoloni F, Marinelli M, Patten N, Bonifacio M, Kropp MG, Sica S, Guarini A, Foà R. Chiaretti S, et al. Among authors: brugnoletti f. Haematologica. 2013 May;98(5):e59-61. doi: 10.3324/haematol.2012.076786. Epub 2013 Feb 12. Haematologica. 2013. PMID: 23403321 Free PMC article. No abstract available.
13 results