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Page 1
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.
Noris P, Schlegel N, Klersy C, Heller PG, Civaschi E, Pujol-Moix N, Fabris F, Favier R, Gresele P, Latger-Cannard V, Cuker A, Nurden P, Greinacher A, Cattaneo M, De Candia E, Pecci A, Hurtaud-Roux MF, Glembotsky AC, Muñiz-Diaz E, Randi ML, Trillot N, Bury L, Lecompte T, Marconi C, Savoia A, Balduini CL, Bayart S, Bauters A, Benabdallah-Guedira S, Boehlen F, Borg JY, Bottega R, Bussel J, De Rocco D, de Maistre E, Faleschini M, Falcinelli E, Ferrari S, Ferster A, Fierro T, Fleury D, Fontana P, James C, Lanza F, Le Cam Duchez V, Loffredo G, Magini P, Martin-Coignard D, Menard F, Mercier S, Mezzasoma A, Minuz P, Nichele I, Notarangelo LD, Pippucci T, Podda GM, Pouymayou C, Rigouzzo A, Royer B, Sie P, Siguret V, Trichet C, Tucci A, Saposnik B, Veneri D; European Hematology Association – Scientific Working Group on Thrombocytopenias and Platelet Function Disorders. Noris P, et al. Among authors: bottega r. Haematologica. 2014 Aug;99(8):1387-94. doi: 10.3324/haematol.2014.105924. Epub 2014 Apr 24. Haematologica. 2014. PMID: 24763399 Free PMC article.
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi C, Pecci A, Palombo F, Melazzini F, Bottega R, Nardi E, Bozzi V, Faleschini M, Barozzi S, Giangregorio T, Magini P, Balduini CL, Savoia A, Seri M, Noris P, Pippucci T. Marconi C, et al. Among authors: bottega r. Haematologica. 2023 Jul 1;108(7):1909-1919. doi: 10.3324/haematol.2022.280993. Haematologica. 2023. PMID: 36519321 Free PMC article.
A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation.
Persico I, Fontana G, Faleschini M, Zanchetta ME, Ammeti D, Cappelli E, Corsolini F, Mosa C, Guarina A, Bogliolo M, Surrallés J, Dufour C, Farruggia P, Savoia A, Bottega R. Persico I, et al. Among authors: bottega r. Front Genet. 2023 Jul 20;14:1209138. doi: 10.3389/fgene.2023.1209138. eCollection 2023. Front Genet. 2023. PMID: 37547463 Free PMC article.
ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism.
Faleschini M, Ammeti D, Papa N, Alfano C, Bottega R, Fontana G, Capaci V, Zanchetta ME, Pozzani F, Montanari F, Petroni V, Giordano P, Noris P, Giona F, Savoia A. Faleschini M, et al. Among authors: bottega r. Haematologica. 2022 Sep 1;107(9):2249-2254. doi: 10.3324/haematol.2022.280729. Haematologica. 2022. PMID: 35586967 Free PMC article. No abstract available.
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.
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.
Correction to: Tocilizumab for patients with COVID-19 pneumonia. The single-arm TOCIVID-19 prospective trial.
Perrone F, Piccirillo MC, Ascierto PA, Salvarani C, Parrella R, Marata AM, Popoli P, Ferraris L, Marrocco-Trischitta MM, Ripamonti D, Binda F, Bonfanti P, Squillace N, Castelli F, Muiesan ML, Lichtner M, Calzetti C, Salerno ND, Atripaldi L, Cascella M, Costantini M, Dolci G, Facciolongo NC, Fraganza F, Massari M, Montesarchio V, Mussini C, Negri EA, Botti G, Cardone C, Gargiulo P, Gravina A, Schettino C, Arenare L, Chiodini P, Gallo C; TOCIVID-19 investigators, Italy. Perrone F, et al. J Transl Med. 2021 Oct 21;19(1):442. doi: 10.1186/s12967-021-03094-9. J Transl Med. 2021. PMID: 34674735 Free PMC article. No abstract available.
40 results