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Items: 1 to 20 of 104

1.

The Current Practice of Lynch Syndrome Diagnosis and Management in Italy: A Qualitative Assessment.

Tognetto A, Pastorino R, Castorina S, Condorelli DF, DeCensi A, De Vito C, Magnano A, Scaldaferri F, Villari P, Genuardi M, Boccia S.

Public Health Genomics. 2019 Dec 5:1-19. doi: 10.1159/000504305. [Epub ahead of print]

PMID:
31805557
2.

Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation.

Tabolacci E, Pomponi MG, Remondini L, Pietrobono R, Nobile V, Pennacchio G, Gurrieri F, Neri G, Genuardi M, Chiurazzi P.

Eur J Hum Genet. 2019 Dec 5. doi: 10.1038/s41431-019-0554-7. [Epub ahead of print]

PMID:
31804632
3.

A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report.

Grippaudo C, Cafiero C, D'Apolito I, Re A, Genuardi M, Chiurazzi P, Frazier-Bowers SA.

BMC Oral Health. 2019 Nov 15;19(1):249. doi: 10.1186/s12903-019-0944-9.

4.

Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers.

Marangi G, Garcovich S, Di Sante G, Orteschi D, Frangella S, Scaldaferri F, Genuardi M, Peris K, Gurrieri F, Zollino M.

Acta Derm Venereol. 2019 Nov 8. doi: 10.2340/00015555-3370. [Epub ahead of print] No abstract available.

5.

Role of extensive diagnostic workup in young athletes and nonathletes with complex ventricular arrhythmias.

Narducci ML, Pelargonio G, La Rosa G, Inzani F, d'Amati G, Novelli V, Marano R, Perna F, Bencardino G, Pinnacchio G, Genuardi M, Cammarano M, Palmieri V, Zeppilli P, Crea F.

Heart Rhythm. 2019 Aug 28. pii: S1547-5271(19)30809-4. doi: 10.1016/j.hrthm.2019.08.022. [Epub ahead of print]

PMID:
31470130
6.

Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?

Vaisfeld A, Calicchia M, Pomponi MG, Lucci-Cordisco E, Reggiani-Bonetti L, Genuardi M.

Fam Cancer. 2019 Oct;18(4):421-427. doi: 10.1007/s10689-019-00139-3.

PMID:
31292797
7.

An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.

Suerink M, Rodríguez-Girondo M, van der Klift HM, Colas C, Brugieres L, Lavoine N, Jongmans M, Munar GC, Evans DG, Farrell MP, Genuardi M, Goldberg Y, Gomez-Garcia E, Heinimann K, Hoell JI, Aretz S, Jasperson KW, Kedar I, Modi MB, Nikolaev S, van Os TAM, Ripperger T, Rueda D, Senter L, Sjursen W, Sunde L, Therkildsen C, Tibiletti MG, Trainer AH, Vos YJ, Wagner A, Winship I, Wimmer K, Zimmermann SY, Vasen HF, van Asperen CJ, Houwing-Duistermaat JJ, Ten Broeke SW, Nielsen M.

Genet Med. 2019 Dec;21(12):2706-2712. doi: 10.1038/s41436-019-0577-z. Epub 2019 Jun 17.

PMID:
31204389
8.

Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives.

Gori S, Barberis M, Bella MA, Buttitta F, Capoluongo E, Carrera P, Colombo N, Cortesi L, Genuardi M, Gion M, Guarneri V, Incorvaia L, La Verde N, Lorusso D, Marchetti A, Marchetti P, Normanno N, Pasini B, Pensabene M, Pignata S, Radice P, Ricevuto E, Sapino A, Tagliaferri P, Tassone P, Trevisiol C, Truini M, Varesco L, Russo A; AIOM-SIGU-SIBIOC-SIAPEC-IAP Working Group.

Crit Rev Oncol Hematol. 2019 Aug;140:67-72. doi: 10.1016/j.critrevonc.2019.05.012. Epub 2019 May 25.

9.

Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.

Sangiorgi E, Azzarà A, Molinario C, Pietrobono R, Rigante D, Verrecchia E, Sicignano LL, Genuardi M, Gurrieri F, Manna R.

Eur J Hum Genet. 2019 Sep;27(9):1361-1368. doi: 10.1038/s41431-019-0421-6. Epub 2019 May 3.

PMID:
31053777
10.

Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.

Leoni C, Onesimo R, Resta N, Patti ML, De Santis R, Bagnulo R, Russo L, Manfredi R, Genuardi M, Zampino G.

Clin Genet. 2019 Jul;96(1):102-103. doi: 10.1111/cge.13550. Epub 2019 Apr 22.

PMID:
31012097
11.

Workload measurement for molecular genetics laboratory: A survey study.

Tagliafico E, Bernardis I, Grasso M, D'Apice MR, Lapucci C, Botta A, Giachino DF, Marinelli M, Primignani P, Russo S, Sani I, Seia M, Fini S, Rimessi P, Tenedini E, Ravani A, Genuardi M, Ferlini A; Molecular Genetics Working Group of the Italian Society of Human Genetics, SIGU.

PLoS One. 2018 Nov 27;13(11):e0206855. doi: 10.1371/journal.pone.0206855. eCollection 2018.

12.

Correction to: Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes.

Ravegnini G, Quero G, Sammarini G, Giustiniani MC, Castri F, Pomponi MG, Angelini S, Alfieri S, Genuardi M, Zamboni G, Ricci R.

Virchows Arch. 2019 Feb;474(2):265. doi: 10.1007/s00428-018-2472-4.

PMID:
30306267
13.

Primary constitutional MLH1 epimutations: a focal epigenetic event.

Dámaso E, Castillejo A, Arias MDM, Canet-Hermida J, Navarro M, Del Valle J, Campos O, Fernández A, Marín F, Turchetti D, García-Díaz JD, Lázaro C, Genuardi M, Rueda D, Alonso Á, Soto JL, Hitchins M, Pineda M, Capellá G.

Br J Cancer. 2018 Oct;119(8):978-987. doi: 10.1038/s41416-018-0019-8. Epub 2018 Oct 4.

14.

Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes.

Ravegnini G, Quero G, Sammarini G, Giustiniani MC, Castri F, Pomponi MG, Angelini S, Alfieri S, Genuardi M, Zamboni G, Ricci R.

Virchows Arch. 2019 Feb;474(2):259-264. doi: 10.1007/s00428-018-2462-6. Epub 2018 Oct 1. Erratum in: Virchows Arch. 2018 Oct 10;:.

PMID:
30276464
15.

Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility.

Weren RDA, van der Post RS, Vogelaar IP, van Krieken JH, Spruijt L, Lubinski J, Jakubowska A, Teodorczyk U, Aalfs CM, van Hest LP, Oliveira C, Kamping EJ, Schackert HK, Ranzani GN, Gómez García EB, Hes FJ, Holinski-Feder E, Genuardi M, Ausems MGEM, Sijmons RH, Wagner A, van der Kolk LE, Cats A, Bjørnevoll I, Hoogerbrugge N, Ligtenberg MJL.

J Med Genet. 2018 Oct;55(10):669-674. doi: 10.1136/jmedgenet-2017-104962. Epub 2018 Jan 12.

16.

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.

Borghesi A, Mencarelli MA, Memo L, Ferrero GB, Bartuli A, Genuardi M, Stronati M, Villani A, Renieri A, Corsello G; their respective Scientific Societies.

Ital J Pediatr. 2017 Nov 3;43(1):100. doi: 10.1186/s13052-017-0418-0. Review.

17.

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report.

Seppälä T, Pylvänäinen K, Evans DG, Järvinen H, Renkonen-Sinisalo L, Bernstein I, Holinski-Feder E, Sala P, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen J, Jenkins M, Genuardi M, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Frayling IM, Plazzer JP, Sampson JR, Capella G, Möslein G, Mecklin JP, Møller P; Mallorca Group.

Hered Cancer Clin Pract. 2017 Oct 10;15:18. doi: 10.1186/s13053-017-0078-5. eCollection 2017.

18.

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.

Vogelaar IP, van der Post RS, van Krieken JHJ, Spruijt L, van Zelst-Stams WA, Kets CM, Lubinski J, Jakubowska A, Teodorczyk U, Aalfs CM, van Hest LP, Pinheiro H, Oliveira C, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, de Ligt J, Vissers LELM, Hoischen A, Gilissen C, van de Vorst M, Goeman JJ, Schackert HK, Ranzani GN, Molinaro V, Gómez García EB, Hes FJ, Holinski-Feder E, Genuardi M, Ausems MGEM, Sijmons RH, Wagner A, van der Kolk LE, Bjørnevoll I, Høberg-Vetti H, van Kessel AG, Kuiper RP, Ligtenberg MJL, Hoogerbrugge N.

Eur J Hum Genet. 2017 Nov;25(11):1246-1252. doi: 10.1038/ejhg.2017.138. Epub 2017 Sep 6.

19.

Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database.

Møller P, Seppälä TT, Bernstein I, Holinski-Feder E, Sala P, Gareth Evans D, Lindblom A, Macrae F, Blanco I, Sijmons RH, Jeffries J, Vasen HFA, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen JT, Jenkins MA, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Valentin MD, Frayling IM, Plazzer JP, Pylvanainen K, Genuardi M, Mecklin JP, Moeslein G, Sampson JR, Capella G; Mallorca Group.

Gut. 2018 Jul;67(7):1306-1316. doi: 10.1136/gutjnl-2017-314057. Epub 2017 Jul 28.

20.

The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use.

D'ippolito S, Di Simone N, Orteschi D, Pomponi MG, Genuardi M, Sisti LG, Castellani R, Rossi ED, Scambia G, Zollino M.

PLoS One. 2017 Jun 12;12(6):e0178113. doi: 10.1371/journal.pone.0178113. eCollection 2017.

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