Cordisco EL - Search Results

1

MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.

Aretz S, Tricarico R, Papi L, Spier I, Pin E, Horpaopan S, Cordisco EL, Pedroni M, Stienen D, Gentile A, Panza A, Piepoli A, de Leon MP, Friedl W, Viel A, Genuardi M. Aretz S, et al. Among authors: cordisco el. Eur J Hum Genet. 2014 Jul;22(7):923-9. doi: 10.1038/ejhg.2012.309. Epub 2013 Jan 30. Eur J Hum Genet. 2014. PMID: 23361220 Free PMC article.

2

Safety of antithrombotic therapy in subjects with hereditary hemorrhagic telangiectasia: prospective data from a multidisciplinary working group.

Gaetani E, Agostini F, Porfidia A, Giarretta I, Feliciani D, Di Martino L, Tortora A, Gasbarrini A, Pola R; Multidisciplinary Gemelli Group for HHT. Gaetani E, et al. Orphanet J Rare Dis. 2019 Dec 26;14(1):298. doi: 10.1186/s13023-019-1278-z. Orphanet J Rare Dis. 2019. PMID: 31878955 Free PMC article.

3

Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer.

Caluseriu O, Cordisco EL, Viel A, Majore S, Nascimbeni R, Pucciarelli S, Genuardi M. Caluseriu O, et al. Among authors: cordisco el. Hum Mutat. 2001 Jun;17(6):521. doi: 10.1002/humu.1137. Hum Mutat. 2001. PMID: 11385712

4

A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability.

Marroni F, Pastrello C, Benatti P, Torrini M, Barana D, Cordisco EL, Viel A, Mareni C, Oliani C, Genuardi M, Bailey-Wilson JE, Ponz de Leon M, Presciuttini S. Marroni F, et al. Among authors: cordisco el. Clin Genet. 2006 Mar;69(3):254-62. doi: 10.1111/j.1399-0004.2006.00577.x. Clin Genet. 2006. PMID: 16542391

5

Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors.

Martinelli S, Carta C, Flex E, Binni F, Cordisco EL, Moretti S, Puxeddu E, Tonacchera M, Pinchera A, McDowell HP, Dominici C, Rosolen A, Di Rocco C, Riccardi R, Celli P, Picardo M, Genuardi M, Grammatico P, Sorcini M, Tartaglia M. Martinelli S, et al. Among authors: cordisco el. Cancer Genet Cytogenet. 2006 Apr 15;166(2):124-9. doi: 10.1016/j.cancergencyto.2005.10.003. Cancer Genet Cytogenet. 2006. PMID: 16631468

6

A conserved motif in the disordered linker of human MLH1 is vital for DNA mismatch repair and its function is diminished by a cancer family mutation.

Wolf K, Kosinski J, Gibson TJ, Wesch N, Dötsch V, Genuardi M, Cordisco EL, Zeuzem S, Brieger A, Plotz G. Wolf K, et al. Among authors: cordisco el. Nucleic Acids Res. 2023 Jul 7;51(12):6307-6320. doi: 10.1093/nar/gkad418. Nucleic Acids Res. 2023. PMID: 37224528 Free PMC article.

7

The policy of public health genomics in Italy.

Simone B, Mazzucco W, Gualano MR, Agodi A, Coviello D, Dagna Bricarelli F, Dallapiccola B, Di Maria E, Federici A, Genuardi M, Varesco L, Ricciardi W, Boccia S; GENISAP Network. Simone B, et al. Health Policy. 2013 May;110(2-3):214-9. doi: 10.1016/j.healthpol.2013.01.015. Epub 2013 Mar 5. Health Policy. 2013. PMID: 23466031

8

Multigenic panels in breast cancer: Clinical utility and management of patients with pathogenic variants other than BRCA1/2.

Fabi A, Cortesi L, Duranti S, Cordisco EL, Di Leone A, Terribile D, Paris I, de Belvis AG, Orlandi A, Marazzi F, Muratore M, Garganese G, Fuso P, Paoletti F, Dell'Aquila R, Minucci A, Scambia G, Franceschini G, Masetti R, Genuardi M. Fabi A, et al. Among authors: cordisco el. Crit Rev Oncol Hematol. 2024 Sep;201:104431. doi: 10.1016/j.critrevonc.2024.104431. Epub 2024 Jul 6. Crit Rev Oncol Hematol. 2024. PMID: 38977141 Review.

9

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero GB, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco EL, Neri G, Pierluigi M, Bricarelli FD, Grasso M, Faravelli F. Cecconi M, et al. Among authors: cordisco el. Am J Med Genet A. 2005 Apr 30;134(3):247-53. doi: 10.1002/ajmg.a.30492. Am J Med Genet A. 2005. PMID: 15742365

10

Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature.

Ziats CA, Jain L, McLarney B, Vandenboom E, DuPont BR, Rogers C, Sarasua S, Nevado J, Cordisco EL, Phelan K, Boccuto L. Ziats CA, et al. Among authors: cordisco el. Eur J Med Genet. 2020 Nov;63(11):104042. doi: 10.1016/j.ejmg.2020.104042. Epub 2020 Aug 19. Eur J Med Genet. 2020. PMID: 32822873 Review.

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