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Correlation between oncological family history and clinical outcome in a large monocentric cohort of pediatric patients with rhabdomyosarcoma.
Sottili V, Signoroni S, Barretta F, Azzollini J, Manoukian S, Luksch R, Terenziani M, Casanova M, Spreafico F, Meazza C, Podda M, Biassoni V, Schiavello E, Chiaravalli S, Massimino M, Gasparini P, Ferrari A. Sottili V, et al. Among authors: manoukian s. Int J Clin Oncol. 2021 Aug;26(8):1561-1568. doi: 10.1007/s10147-021-01934-8. Epub 2021 Jun 1. Int J Clin Oncol. 2021. PMID: 34075482
Bilateral preaxial polydactyly in a WAGR syndrome patient.
Manoukian S, Crolla JA, Mammoliti PM, Testi MA, Zanini R, Carpanelli ML, Piozzi E, Sozzi G, De Vecchi G, Terenziani M, Spreafico F, Collini P, Radice P, Perotti D. Manoukian S, et al. Am J Med Genet A. 2005 May 1;134(4):426-9. doi: 10.1002/ajmg.a.30647. Am J Med Genet A. 2005. PMID: 15742368
Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families.
Manoukian S, Peissel B, Pensotti V, Barile M, Cortesi L, Stacchiotti S, Terenziani M, Barbera F, Pasquini G, Frigerio S, Pierotti MA, Radice P, Della-Torre G. Manoukian S, et al. Eur J Cancer. 2007 Feb;43(3):601-6. doi: 10.1016/j.ejca.2006.09.024. Epub 2007 Jan 16. Eur J Cancer. 2007. PMID: 17224268
A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma.
Frigerio S, Disciglio V, Manoukian S, Peissel B, Della Torre G, Maurichi A, Collini P, Pasini B, Gotti G, Ferrari A, Rivoltini L, Massimino M, Rodolfo M. Frigerio S, et al. Among authors: manoukian s. BMC Med Genet. 2014 May 17;15:59. doi: 10.1186/1471-2350-15-59. BMC Med Genet. 2014. PMID: 24884915 Free PMC article.
Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study.
Azzollini J, Scuvera G, Bruno E, Pasanisi P, Zaffaroni D, Calvello M, Pasini B, Ripamonti CB, Colombo M, Pensotti V, Radice P, Peissel B, Manoukian S. Azzollini J, et al. Among authors: manoukian s. Eur J Intern Med. 2016 Jul;32:65-71. doi: 10.1016/j.ejim.2016.03.010. Epub 2016 Apr 6. Eur J Intern Med. 2016. PMID: 27062684
Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopies.
Azzollini J, Pesenti C, Ferrari L, Fontana L, Calvello M, Peissel B, Portera G, Tabano S, Carcangiu ML, Riva P, Miozzo M, Manoukian S. Azzollini J, et al. Among authors: manoukian s. PLoS One. 2017 Feb 15;12(2):e0171663. doi: 10.1371/journal.pone.0171663. eCollection 2017. PLoS One. 2017. PMID: 28199346 Free PMC article.
343 results