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A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns.
Borelli I, Casalis Cavalchini GC, Del Peschio S, Micheletti M, Venesio T, Sarotto I, Allavena A, Delsedime L, Barberis MA, Mandrile G, Berchialla P, Ogliara P, Bracco C, Pasini B. Borelli I, et al. Among authors: barberis ma. Fam Cancer. 2014 Sep;13(3):401-13. doi: 10.1007/s10689-014-9726-3. Fam Cancer. 2014. PMID: 24802709 Free article.
Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort.
Grassano M, Calvo A, Moglia C, Brunetti M, Barberis M, Sbaiz L, Canosa A, Manera U, Vasta R, Corrado L, D'Alfonso S, Mazzini L, Scholz SW, Dalgard C, Ding J, Gibbs RJ, Chia R, Traynor BJ, Chiò A; American Genomic Center. Grassano M, et al. Among authors: barberis m. Neurology. 2021 Jan 26;96(4):e600-e609. doi: 10.1212/WNL.0000000000011209. Epub 2020 Nov 18. Neurology. 2021. PMID: 33208543 Free PMC article.
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel M, Cich… See abstract for full author list ➔ van Rheenen W, et al. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Nat Genet. 2021. PMID: 34873335 Free PMC article.
A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin.
Borelli I, Barberis MA, Spina F, Casalis Cavalchini GC, Vivanet C, Balestrino L, Micheletti M, Allavena A, Sala P, Carcassi C, Pasini B. Borelli I, et al. Among authors: barberis ma. Eur J Hum Genet. 2013 Feb;21(2):154-61. doi: 10.1038/ejhg.2012.150. Epub 2012 Jul 11. Eur J Hum Genet. 2013. PMID: 22781090 Free PMC article.
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy.
Brussino A, Vaula G, Cagnoli C, Mauro A, Pradotto L, Daniele D, Di Gregorio E, Barberis M, Arduino C, Squadrone S, Abete MC, Migone N, Calabrese O, Brusco A. Brussino A, et al. Among authors: barberis m. J Neurol Neurosurg Psychiatry. 2009 Feb;80(2):237-40. doi: 10.1136/jnnp.2008.147330. J Neurol Neurosurg Psychiatry. 2009. PMID: 19151023 Free article.
Mutations in the lamin B1 gene are not present in multiple sclerosis.
Brussino A, D'Alfonso S, Cagnoli C, Di Gregorio E, Barberis M, Padovan S, Vaula G, Pinessi L, Squadrone S, Abete MC, Collimedaglia L, Guerini FR, Migone N, Brusco A. Brussino A, et al. Among authors: barberis m. Eur J Neurol. 2009 Apr;16(4):544-6. doi: 10.1111/j.1468-1331.2009.02536.x. Eur J Neurol. 2009. PMID: 19348623
392 results