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Items: 1 to 20 of 84

1.

BRCA1/2 Molecular Assay for Ovarian Cancer Patients: A Survey through Italian Departments of Oncology and Molecular and Genomic Diagnostic Laboratories.

Capoluongo E, La Verde N, Barberis M, Bella MA, Buttitta F, Carrera P, Colombo N, Cortesi L, Gion M, Guarneri V, 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, Gori S.

Diagnostics (Basel). 2019 Oct 9;9(4). pii: E146. doi: 10.3390/diagnostics9040146.

2.

Predictors of recurrence of pheochromocytoma and paraganglioma: a multicenter study in Piedmont, Italy.

Parasiliti-Caprino M, Lucatello B, Lopez C, Burrello J, Maletta F, Mistrangelo M, Migliore E, Tassone F, La Grotta A, Pia A, Reimondo G, Giordano R, Giraudo G, Piovesan A, Ciccone G, Deandreis D, Limone P, Orlandi F, Borretta G, Volante M, Mulatero P, Papotti M, Aimaretti G, Terzolo M, Morino M, Pasini B, Veglio F, Ghigo E, Arvat E, Maccario M.

Hypertens Res. 2019 Oct 4. doi: 10.1038/s41440-019-0339-y. [Epub ahead of print]

PMID:
31586159
3.

Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification.

Giorgio E, Garelli E, Carando A, Bellora S, Rubino E, Quarello P, Sirchia F, Marrama F, Gallone S, Grosso E, Pasini B, Massa R, Brussino A, Brusco A.

J Hum Genet. 2019 Nov;64(11):1083-1090. doi: 10.1038/s10038-019-0668-3. Epub 2019 Sep 9.

PMID:
31501477
4.

Concordance of p16, FH, and alpha-SMA expression with the fumarate hydratase gene mutational status in sporadic and hereditary piloleiomyomas.

Gironi LC, Camillo L, Zottarelli F; Leiomyomatosis Interdisciplinary Group, Savoia P.

Pathology. 2019 Oct;51(6):659-663. doi: 10.1016/j.pathol.2019.05.006. Epub 2019 Aug 31. No abstract available.

PMID:
31481265
5.

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism.

Gironi LC, Colombo E, Brusco A, Grosso E, Naretto VG, Guala A, Di Gregorio E, Zonta A, Zottarelli F, Pasini B, Savoia P.

Medicina (Kaunas). 2019 Jul 7;55(7). pii: E345. doi: 10.3390/medicina55070345.

6.

Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition.

Gambale A, Russo R, Andolfo I, Quaglietta L, De Rosa G, Contestabile V, De Martino L, Genesio R, Pignataro P, Giglio S, Capasso M, Parasole R, Pasini B, Iolascon A.

Clin Genet. 2019 Oct;96(4):359-365. doi: 10.1111/cge.13600. Epub 2019 Jul 15.

PMID:
31278746
7.

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.

Laitman Y, Friebel TM, Yannoukakos D, Fostira F, Konstantopoulou I, Figlioli G, Bonanni B, Manoukian S, Zuradelli M, Tondini C, Pasini B, Peterlongo P, Plaseska-Karanfilska D, Jakimovska M, Majidzadeh K, Zarinfam S, Loizidou MA, Hadjisavvas A, Michailidou K, Kyriacou K, Behar DM, Molho RB, Ganz P, James P, Parsons MT, Sallam A, Olopade OI, Seth A, Chenevix-Trench G, Leslie G, McGuffog L, Marafie MJ, Megarbane A, Al-Mulla F, Rebbeck TR, Friedman E.

Hum Mutat. 2019 Nov;40(11):e1-e23. doi: 10.1002/humu.23842. Epub 2019 Jul 26.

PMID:
31209999
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.

TERT Promoter Mutations are Associated with Visceral Spreading in Melanoma of the Trunk.

Osella-Abate S, Bertero L, Senetta R, Mariani S, Lisa F, Coppola V, Metovic J, Pasini B, Puig S S, Fierro MT, Manrique-Silva E, Kumar R, Nagore E, Cassoni P, Ribero S.

Cancers (Basel). 2019 Mar 30;11(4). pii: E452. doi: 10.3390/cancers11040452.

10.

A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.

Mancini C, Zonta A, Botta G, Breda Klobus A, Valbonesi S, Pasini B, Giorgio E, Viora E, Brusco A, Brussino A.

Eur J Med Genet. 2019 Nov;62(11):103578. doi: 10.1016/j.ejmg.2018.11.012. Epub 2018 Nov 13.

PMID:
30445150
11.

Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes.

Betti M, Aspesi A, Ferrante D, Sculco M, Righi L, Mirabelli D, Napoli F, Rondón-Lagos M, Casalone E, Vignolo Lutati F, Ogliara P, Bironzo P, Gironi CL, Savoia P, Maffè A, Ungari S, Grosso F, Libener R, Boldorini R, Valiante M, Pasini B, Matullo G, Scagliotti G, Magnani C, Dianzani I.

Genes Chromosomes Cancer. 2018 Nov;57(11):573-583. doi: 10.1002/gcc.22670.

PMID:
30338612
12.

Melanoma-prone families: new evidence of distinctive clinical and histological features of melanomas in CDKN2A mutation carriers.

Gironi LC, Colombo E, Pasini B, Giorgione R, Farinelli P, Zottarelli F, Esposto E, Zavattaro E, Allara E, Ogliara P, Betti M, Dianzani I, Savoia P.

Arch Dermatol Res. 2018 Dec;310(10):769-784. doi: 10.1007/s00403-018-1866-0. Epub 2018 Sep 15.

PMID:
30218143
13.

The expression of LINE1-MET chimeric transcript identifies a subgroup of aggressive breast cancers.

Miglio U, Berrino E, Panero M, Ferrero G, Coscujuela Tarrero L, Miano V, Dell'Aglio C, Sarotto I, Annaratone L, Marchiò C, Comoglio PM, De Bortoli M, Pasini B, Venesio T, Sapino A.

Int J Cancer. 2018 Dec 1;143(11):2838-2848. doi: 10.1002/ijc.31831. Epub 2018 Oct 4.

14.

Liddle Syndrome: Review of the Literature and Description of a New Case.

Tetti M, Monticone S, Burrello J, Matarazzo P, Veglio F, Pasini B, Jeunemaitre X, Mulatero P.

Int J Mol Sci. 2018 Mar 11;19(3). pii: E812. doi: 10.3390/ijms19030812. Review.

15.

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, Leslie G, Aalfs CM, Abugattas J, Adlard J, Agata S, Aittomäki K, Andrews L, Andrulis IL, Arason A, Arnold N, Arun BK, Asseryanis E, Auerbach L, Azzollini J, Balmaña J, Barile M, Barkardottir RB, Barrowdale D, Benitez J, Berger A, Berger R, Blanco AM, Blazer KR, Blok MJ, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campbell I, Caputo SM, Chiquette J, Chung WK, Claes KBM, Collée JM, Cook J, Davidson R, de la Hoya M, De Leeneer K, de Pauw A, Delnatte C, Diez O, Ding YC, Ditsch N, Domchek SM, Dorfling CM, Velazquez C, Dworniczak B, Eason J, Easton DF, Eeles R, Ehrencrona H, Ejlertsen B; EMBRACE, Engel C, Engert S, Evans DG, Faivre L, Feliubadaló L, Ferrer SF, Foretova L, Fowler J, Frost D, Galvão HCR, Ganz PA, Garber J, Gauthier-Villars M, Gehrig A; GEMO Study Collaborators, Gerdes AM, Gesta P, Giannini G, Giraud S, Glendon G, Godwin AK, Greene MH, Gronwald J, Gutierrez-Barrera A, Hahnen E, Hauke J; HEBON, Henderson A, Hentschel J, Hogervorst FBL, Honisch E, Imyanitov EN, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, Jensen UB, John EM, Vijai J, Kaczmarek K, Karlan BY, Kast K, Investigators K, Kim SW, Konstantopoulou I, Korach J, Laitman Y, Lasa A, Lasset C, Lázaro C, Lee A, Lee MH, Lester J, Lesueur F, Liljegren A, Lindor NM, Longy M, Loud JT, Lu KH, Lubinski J, Machackova E, Manoukian S, Mari V, Martínez-Bouzas C, Matrai Z, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Mensenkamp AR, Mickys U, Miller A, Montagna M, Moysich KB, Mulligan AM, Musinsky J, Neuhausen SL, Nevanlinna H, Ngeow J, Nguyen HP, Niederacher D, Nielsen HR, Nielsen FC, Nussbaum RL, Offit K, Öfverholm A, Ong KR, Osorio A, Papi L, Papp J, Pasini B, Pedersen IS, Peixoto A, Peruga N, Peterlongo P, Pohl E, Pradhan N, Prajzendanc K, Prieur F, Pujol P, Radice P, Ramus SJ, Rantala J, Rashid MU, Rhiem K, Robson M, Rodriguez GC, Rogers MT, Rudaitis V, Schmidt AY, Schmutzler RK, Senter L, Shah PD, Sharma P, Side LE, Simard J, Singer CF, Skytte AB, Slavin TP, Snape K, Sobol H, Southey M, Steele L, Steinemann D, Sukiennicki G, Sutter C, Szabo CI, Tan YY, Teixeira MR, Terry MB, Teulé A, Thomas A, Thull DL, Tischkowitz M, Tognazzo S, Toland AE, Topka S, Trainer AH, Tung N, van Asperen CJ, van der Hout AH, van der Kolk LE, van der Luijt RB, Van Heetvelde M, Varesco L, Varon-Mateeva R, Vega A, Villarreal-Garza C, von Wachenfeldt A, Walker L, Wang-Gohrke S, Wappenschmidt B, Weber BHF, Yannoukakos D, Yoon SY, Zanzottera C, Zidan J, Zorn KK, Hutten Selkirk CG, Hulick PJ, Chenevix-Trench G, Spurdle AB, Antoniou AC, Nathanson KL.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

16.

GENETICS IN ENDOCRINOLOGY: The expanding genetic horizon of primary aldosteronism.

Monticone S, Buffolo F, Tetti M, Veglio F, Pasini B, Mulatero P.

Eur J Endocrinol. 2018 Mar;178(3):R101-R111. doi: 10.1530/EJE-17-0946. Epub 2018 Jan 18. Review.

PMID:
29348113
17.

The association between smoking and cancer incidence in BRCA1 and BRCA2 mutation carriers.

Ko KP, Kim SJ, Huzarski T, Gronwald J, Lubinski J, Lynch HT, Armel S, Park SK, Karlan B, Singer CF, Neuhausen SL, Narod SA, Kotsopoulos J; Hereditary Breast Cancer Clinical Study Group.

Int J Cancer. 2018 Jun 1;142(11):2263-2272. doi: 10.1002/ijc.31257. Epub 2018 Jan 25.

18.

Radiofrequency Ablation for Renal Cancer in Von Hippel-Lindau Syndrome Patients: A Prospective Cohort Analysis.

Allasia M, Soria F, Battaglia A, Gazzera C, Calandri M, Caprino MP, Lucatello B, Velrti A, Maccario M, Pasini B, Bosio A, Gontero P, Destefanis P.

Clin Genitourin Cancer. 2017 Aug 10. pii: S1558-7673(17)30237-9. doi: 10.1016/j.clgc.2017.07.027. [Epub ahead of print]

PMID:
28866246
19.

A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10.

Giorgio E, Rubino E, Bruselles A, Pizzi S, Rainero I, Duca S, Sirchia F, Pasini B, Tartaglia M, Brusco A.

Eur J Endocrinol. 2017 Nov;177(5):K21-K27. doi: 10.1530/EJE-17-0431. Epub 2017 Aug 17.

PMID:
28819016
20.

[Hyperuricemia and gene mutations: a case report].

Tattoli F, Falconi D, De Prisco O, Maurizio G, Marazzi F, Marengo M, Serra I, Tamagnone M, Cordero di Montezemolo L, Pasini B, Formica M.

G Ital Nefrol. 2017 Jun;34(3):38-43. Italian.

PMID:
28700181

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