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Items: 1 to 20 of 55

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.

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.

3.

Expanding the spectrum of genes responsible for hereditary motor neuropathies.

Previtali SC, Zhao E, Lazarevic D, Pipitone GB, Fabrizi GM, Manganelli F, Mazzeo A, Pareyson D, Schenone A, Taroni F, Vita G, Bellone E, Ferrarini M, Garibaldi M, Magri S, Padua L, Pennisi E, Pisciotta C, Riva N, Scaioli V, Scarlato M, Tozza S, Geroldi A, Jordanova A, Ferrari M, Molineris I, Reilly MM, Comi G, Carrera P, Devoto M, Bolino A.

J Neurol Neurosurg Psychiatry. 2019 Oct;90(10):1171-1179. doi: 10.1136/jnnp-2019-320717. Epub 2019 Jun 5.

PMID:
31167812
4.

ADCY10 frameshift variant leading to severe recessive asthenozoospermia and segregating with absorptive hypercalciuria.

Akbari A, Pipitone GB, Anvar Z, Jaafarinia M, Ferrari M, Carrera P, Totonchi M.

Hum Reprod. 2019 Jun 4;34(6):1155-1164. doi: 10.1093/humrep/dez048.

PMID:
31119281
5.

Concurrence of NMOSD and ALS in a patient with hexanucleotide repeat expansions of C9orf72.

Falzone YM, Radaelli M, Agosta F, Domi T, Guerrieri S, Spinelli EG, Pozzi L, Carrera P, Ferrari M, Comi G, Filippi M, Quattrini A, Riva N.

Amyotroph Lateral Scler Frontotemporal Degener. 2019 Aug;20(5-6):449-452. doi: 10.1080/21678421.2019.1604761. Epub 2019 Apr 22.

PMID:
31007077
6.

Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis.

Bandres-Ciga S, Noyce AJ, Hemani G, Nicolas A, Calvo A, Mora G; ITALSGEN Consortium; International ALS Genomics Consortium, Tienari PJ, Stone DJ, Nalls MA, Singleton AB, Chiò A, Traynor BJ.

Ann Neurol. 2019 Apr;85(4):470-481. doi: 10.1002/ana.25431. Epub 2019 Mar 13.

PMID:
30723964
7.

The role of clinical and neuroimaging features in the diagnosis of CADASIL.

Bersano A, Bedini G, Markus HS, Vitali P, Colli-Tibaldi E, Taroni F, Gellera C, Baratta S, Mosca L, Carrera P, Ferrari M, Cereda C, Grieco G, Lanfranconi S, Mazucchelli F, Zarcone D, De Lodovici ML, Bono G, Boncoraglio GB, Parati EA, Calloni MV, Perrone P, Bordo BM, Motto C, Agostoni E, Pezzini A, Padovani A, Micieli G, Cavallini A, Molini G, Sasanelli F, Sessa M, Comi G, Checcarelli N, Carmerlingo M, Corato M, Marcheselli S, Fusi L, Grampa G, Uccellini D, Beretta S, Ferrarese C, Incorvaia B, Tadeo CS, Adobbati L, Silani V, Faragò G, Trobia N, Grond-Ginsbach C, Candelise L; Lombardia GENS-group.

J Neurol. 2018 Dec;265(12):2934-2943. doi: 10.1007/s00415-018-9072-8. Epub 2018 Oct 11.

PMID:
30311053
8.

Integration of multigene panels for the diagnosis of hereditary retinal disorders using Next Generation Sequencing and bioinformatics approaches.

Di Resta C, Spiga I, Presi S, Merella S, Pipitone GB, Manitto MP, Querques G, Parodi MB, Ferrari M, Carrera P.

EJIFCC. 2018 Apr 30;29(1):15-25. eCollection 2018 Apr.

9.

Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities.

Di Resta C, Galbiati S, Carrera P, Ferrari M.

EJIFCC. 2018 Apr 30;29(1):4-14. eCollection 2018 Apr.

10.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE.

Neuron. 2018 Mar 21;97(6):1268-1283.e6. doi: 10.1016/j.neuron.2018.02.027.

11.

The prevalence of autosomal dominant polycystic kidney disease (ADPKD): A meta-analysis of European literature and prevalence evaluation in the Italian province of Modena suggest that ADPKD is a rare and underdiagnosed condition.

Solazzo A, Testa F, Giovanella S, Busutti M, Furci L, Carrera P, Ferrari M, Ligabue G, Mori G, Leonelli M, Cappelli G, Magistroni R.

PLoS One. 2018 Jan 16;13(1):e0190430. doi: 10.1371/journal.pone.0190430. eCollection 2018.

12.

ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis.

Lattante S, Pomponi MG, Conte A, Marangi G, Bisogni G, Patanella AK, Meleo E, Lunetta C, Riva N, Mosca L, Carrera P, Bee M, Zollino M, Sabatelli M.

Neurobiol Aging. 2018 Apr;64:157.e1-157.e5. doi: 10.1016/j.neurobiolaging.2017.11.011. Epub 2017 Nov 28.

PMID:
29274668
13.

Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome.

Somaschini M, Presi S, Ferrari M, Vergani B, Carrera P.

J Perinatol. 2018 Apr;38(4):337-344. doi: 10.1038/s41372-017-0018-2. Epub 2017 Dec 19.

14.

Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation.

Capo V, Castiello MC, Fontana E, Penna S, Bosticardo M, Draghici E, Poliani LP, Sergi Sergi L, Rigoni R, Cassani B, Zanussi M, Carrera P, Uva P, Dobbs K, Sacchetti N, Notarangelo LD, van Til NP, Wagemaker G, Villa A.

J Allergy Clin Immunol. 2018 Sep;142(3):928-941.e8. doi: 10.1016/j.jaci.2017.11.015. Epub 2017 Dec 11.

15.

X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene.

Ciammola A, Carrera P, Di Fonzo A, Sassone J, Villa R, Poletti B, Ferrari M, Girotti F, Monfrini E, Buongarzone G, Silani V, Cinnante CM, Mignogna ML, D'Adamo P, Bonati MT.

Parkinsonism Relat Disord. 2017 Nov;44:142-146. doi: 10.1016/j.parkreldis.2017.08.021. Epub 2017 Aug 26.

PMID:
28851564
16.

TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation.

Pozzi L, Valenza F, Mosca L, Dal Mas A, Domi T, Romano A, Tarlarini C, Falzone YM, Tremolizzo L, Sorarù G, Cerri F, Ferraro PM, Basaia S, Agosta F, Fazio R, Comola M, Comi G, Ferrari M, Quattrini A, Lunetta C, Penco S, Bonanomi D, Carrera P, Riva N.

J Neurol Neurosurg Psychiatry. 2017 Oct;88(10):869-875. doi: 10.1136/jnnp-2017-316174. Epub 2017 Aug 19.

17.

Structural and functional brain signatures of C9orf72 in motor neuron disease.

Agosta F, Ferraro PM, Riva N, Spinelli EG, Domi T, Carrera P, Copetti M, Falzone Y, Ferrari M, Lunetta C, Comi G, Falini A, Quattrini A, Filippi M.

Neurobiol Aging. 2017 Sep;57:206-219. doi: 10.1016/j.neurobiolaging.2017.05.024. Epub 2017 Jun 6.

PMID:
28666709
18.

Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?

Camia F, Pisciotta L, Morana G, Schiaffino MC, Renna S, Carrera P, Ferrari M, Baglietto MG, Veneselli E, Siri L, Mancardi MM.

Cephalalgia. 2017 Oct;37(12):1202-1206. doi: 10.1177/0333102416668655. Epub 2016 Sep 19.

PMID:
27651281
19.

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Carrera P, Calzavara S, Magistroni R, den Dunnen JT, Rigo F, Stenirri S, Testa F, Messa P, Cerutti R, Scolari F, Izzi C, Edefonti A, Negrisolo S, Benetti E, Alibrandi MT, Manunta P, Boletta A, Ferrari M.

Sci Rep. 2016 Aug 8;6:30850. doi: 10.1038/srep30850.

20.

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.

Bersano A, Markus HS, Quaglini S, Arbustini E, Lanfranconi S, Micieli G, Boncoraglio GB, Taroni F, Gellera C, Baratta S, Penco S, Mosca L, Grasso M, Carrera P, Ferrari M, Cereda C, Grieco G, Corti S, Ronchi D, Bassi MT, Obici L, Parati EA, Pezzini A, De Lodovici ML, Verrengia EP, Bono G, Mazucchelli F, Zarcone D, Calloni MV, Perrone P, Bordo BM, Colombo A, Padovani A, Cavallini A, Beretta S, Ferrarese C, Motto C, Agostoni E, Molini G, Sasanelli F, Corato M, Marcheselli S, Sessa M, Comi G, Checcarelli N, Guidotti M, Uccellini D, Capitani E, Tancredi L, Arnaboldi M, Incorvaia B, Tadeo CS, Fusi L, Grampa G, Merlini G, Trobia N, Comi GP, Braga M, Vitali P, Baron P, Grond-Ginsbach C, Candelise L; Lombardia GENS Group*.

Stroke. 2016 Jul;47(7):1702-9. doi: 10.1161/STROKEAHA.115.012281. Epub 2016 May 31.

PMID:
27245348

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