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FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Hum Mol Genet. 2015 Sep 15;24(18):5345-55. doi: 10.1093/hmg/ddv251. Epub 2015 Jun 30.
Hum Mol Genet. 2015.
PMID: 26130695
Free PMC article.
Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
Guglielmi C, Scarpitta R, Gambino G, Conti E, Bellè F, Tancredi M, Cervelli T, Falaschi E, Cosini C, Aretini P, Congregati C, Marino M, Patruno M, Pilato B, Spina F, Balestrino L, Tenedini E, Carnevali I, Cortesi L, Tagliafico E, Tibiletti MG, Tommasi S, Ghilli M, Vivanet C, Galli A, Caligo MA.
Guglielmi C, et al. Among authors: balestrino l.
Int J Mol Sci. 2021 Jul 19;22(14):7693. doi: 10.3390/ijms22147693.
Int J Mol Sci. 2021.
PMID: 34299313
Free PMC article.
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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: balestrino l.
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.
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MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review.
Zorcolo L, Fantola G, Balestrino L, Restivo A, Vivanet C, Spina F, Cabras F, Ambu R, Casula G.
Zorcolo L, et al. Among authors: balestrino l.
Tumori. 2011 Sep-Oct;97(5):676-80. doi: 10.1177/030089161109700523.
Tumori. 2011.
PMID: 22158503
Review.
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Definition and management of colorectal polyposis not associated with APC/MUTYH germline pathogenic variants: AIFEG consensus statement.
Urso EDL, Ponz de Leon M, Vitellaro M, Piozzi GN, Bao QR, Martayan A, Remo A, Stigliano V, Oliani C, Lucci Cordisco E, Pucciarelli S, Ranzani GN, Viel A; AIFEG group.
Urso EDL, et al.
Dig Liver Dis. 2021 Apr;53(4):409-417. doi: 10.1016/j.dld.2020.11.018. Epub 2021 Jan 25.
Dig Liver Dis. 2021.
PMID: 33504457
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A genetic epidemiology study of congenital adrenal hyperplasia in Italy.
Gialluisi A, Menabò S, Baldazzi L, Casula L, Meloni A, Farci MC, Mariotti S, Balestrino L, Ortolano R, Murru S, Carcassi C, Loche S, Balsamo A, Romeo G.
Gialluisi A, et al. Among authors: balestrino l.
Clin Genet. 2018 Feb;93(2):223-227. doi: 10.1111/cge.13078. Epub 2017 Oct 17.
Clin Genet. 2018.
PMID: 28644547
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Genetic Creutzfeldt-Jakob disease in Sardinia: a case series linked to the PRNP R208H mutation due to a single founder effect.
Melis M, Molari A, Floris G, Vascellari S, Balestrino L, Ladogana A, Poleggi A, Parchi P, Cossu G, Melis M, Orrù S, Defazio G.
Melis M, et al. Among authors: balestrino l.
Neurogenetics. 2020 Oct;21(4):251-257. doi: 10.1007/s10048-020-00618-1. Epub 2020 May 26.
Neurogenetics. 2020.
PMID: 32458274
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