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Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis.
Persico I, Feresin A, Faleschini M, Fontana G, Sirchia F, Faletra F, La Bianca M, Suergiu S, Morgutti M, Maschio M, D'Adamo AP, Raraigh KS, Savoia A, Bottega R. Persico I, et al. Among authors: bottega r. Mol Genet Genomic Med. 2022 Jun;10(6):e1926. doi: 10.1002/mgg3.1926. Epub 2022 Mar 29. Mol Genet Genomic Med. 2022. PMID: 35348309 Free PMC article.
Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia.
Bottega R, Ravera S, Napolitano LMR, Chiappetta V, Zini N, Crescenzi B, Arniani S, Faleschini M, Cortone G, Faletra F, Medagli B, Sirchia F, Moretti M, de Lange J, Cappelli E, Mecucci C, Onesti S, Pisani FM, Savoia A. Bottega R, et al. J Cell Physiol. 2021 Aug;236(8):5664-5675. doi: 10.1002/jcp.30265. Epub 2021 Jan 11. J Cell Physiol. 2021. PMID: 33432587 Free article.
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.
Bottega R, Marzollo A, Marinoni M, Athanasakis E, Persico I, Bianco AM, Faleschini M, Valencic E, Simoncini D, Rossini L, Corsolini F, La Bianca M, Robustelli G, Gabelli M, Agosti M, Biffi A, Grotto P, Bozzi V, Noris P, Burlina AB, D'Adamo AP, Tommasini A, Faletra F, Pastore A, Savoia A. Bottega R, et al. Haematologica. 2022 Mar 1;107(3):750-754. doi: 10.3324/haematol.2021.279689. Haematologica. 2022. PMID: 34788986 Free PMC article. No abstract available.
MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations.
De Rocco D, Zieger B, Platokouki H, Heller PG, Pastore A, Bottega R, Noris P, Barozzi S, Glembotsky AC, Pergantou H, Balduini CL, Savoia A, Pecci A. De Rocco D, et al. Among authors: bottega r. Eur J Med Genet. 2013 Jan;56(1):7-12. doi: 10.1016/j.ejmg.2012.10.009. Epub 2012 Oct 30. Eur J Med Genet. 2013. PMID: 23123319 Free PMC article.
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.
Nicchia E, Benedicenti F, De Rocco D, Greco C, Bottega R, Inzana F, Faleschini M, Bonin S, Cappelli E, Mogni M, Stanzial F, Svahn J, Dufour C, Savoia A. Nicchia E, et al. Among authors: bottega r. Birth Defects Res A Clin Mol Teratol. 2015 Dec;103(12):1003-10. doi: 10.1002/bdra.23388. Epub 2015 Jun 2. Birth Defects Res A Clin Mol Teratol. 2015. PMID: 26033879
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