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Page 1
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.
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.
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.
Increased chronic lymphocytic leukemia proliferation upon IgM stimulation is sustained by the upregulation of miR-132 and miR-212.
Tavolaro S, Colombo T, Chiaretti S, Peragine N, Fulci V, Ricciardi MR, Messina M, Bonina S, Brugnoletti F, Marinelli M, Di Maio V, Mauro FR, Del Giudice I, Macino G, Foà R, Guarini A. Tavolaro S, et al. Among authors: brugnoletti f. Genes Chromosomes Cancer. 2015 Apr;54(4):222-34. doi: 10.1002/gcc.22236. Epub 2015 Feb 2. Genes Chromosomes Cancer. 2015. PMID: 25645730
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.
CD45 antigen negativity in T-lineage ALL correlates with PTPRC mutation and sensitivity to a selective JAK inhibitor.
Raponi S, Gianfelici V, Chiaretti S, Peragine N, Brugnoletti F, De Propris MS, Marinelli M, Hulselmans G, Aerts S, Geerdens E, Cools J, Foà R, Guarini A. Raponi S, et al. Among authors: brugnoletti f. Br J Haematol. 2015 Dec;171(5):884-7. doi: 10.1111/bjh.13448. Epub 2015 Apr 8. Br J Haematol. 2015. PMID: 25854815 Free article. No abstract available.
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.
13 results