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Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.
Mol Genet Genomic Med. 2021 Dec;9(12):e1831. doi: 10.1002/mgg3.1831. Epub 2021 Oct 26.
Mol Genet Genomic Med. 2021.
PMID: 34704405
Free PMC article.
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum.
Di Feo MF, Lillback V, Jokela M, McEntagart M, Homfray T, Giorgio E, Casalis Cavalchini GC, Brusco A, Iascone M, Spaccini L, D'Oria P, Savarese M, Udd B.
Di Feo MF, et al. Among authors: casalis cavalchini gc.
J Med Genet. 2023 Sep;60(9):866-873. doi: 10.1136/jmg-2022-109018. Epub 2023 Mar 28.
J Med Genet. 2023.
PMID: 36977548
Free article.
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Evaluating breast cancer risk: available models to assess individual breast cancer risk and probability to be a BRCA mutation carrier.
Pasini B, Casalis Cavalchini GC, Genovese T, Manoukian S.
Pasini B, et al. Among authors: casalis cavalchini gc.
J Exp Clin Cancer Res. 2002 Sep;21(3 Suppl):23-9.
J Exp Clin Cancer Res. 2002.
PMID: 12585650
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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: casalis cavalchini gc.
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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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: casalis cavalchini gc.
Fam Cancer. 2014 Sep;13(3):401-13. doi: 10.1007/s10689-014-9726-3.
Fam Cancer. 2014.
PMID: 24802709
Free article.
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