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Page 1
Genetics of familial forms of thrombocytopenia.
Balduini CL, Savoia A. Balduini CL, et al. Hum Genet. 2012 Dec;131(12):1821-32. doi: 10.1007/s00439-012-1215-x. Epub 2012 Aug 11. Hum Genet. 2012. PMID: 22886561 Review.
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.
Noris P, Perrotta S, Seri M, Pecci A, Gnan C, Loffredo G, Pujol-Moix N, Zecca M, Scognamiglio F, De Rocco D, Punzo F, Melazzini F, Scianguetta S, Casale M, Marconi C, Pippucci T, Amendola G, Notarangelo LD, Klersy C, Civaschi E, Balduini CL, Savoia A. Noris P, et al. Among authors: balduini cl. Blood. 2011 Jun 16;117(24):6673-80. doi: 10.1182/blood-2011-02-336537. Epub 2011 Apr 5. Blood. 2011. PMID: 21467542 Free article.
Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders.
Noris P, Biino G, Pecci A, Civaschi E, Savoia A, Seri M, Melazzini F, Loffredo G, Russo G, Bozzi V, Notarangelo LD, Gresele P, Heller PG, Pujol-Moix N, Kunishima S, Cattaneo M, Bussel J, De Candia E, Cagioni C, Ramenghi U, Barozzi S, Fabris F, Balduini CL. Noris P, et al. Among authors: balduini cl. Blood. 2014 Aug 7;124(6):e4-e10. doi: 10.1182/blood-2014-03-564328. Epub 2014 Jul 2. Blood. 2014. PMID: 24990887 Free PMC article.
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia.
Marconi C, Di Buduo CA, LeVine K, Barozzi S, Faleschini M, Bozzi V, Palombo F, McKinstry S, Lassandro G, Giordano P, Noris P, Balduini CL, Savoia A, Balduini A, Pippucci T, Seri M, Katsanis N, Pecci A. Marconi C, et al. Among authors: balduini cl, balduini a. Blood. 2019 Mar 21;133(12):1346-1357. doi: 10.1182/blood-2018-07-859496. Epub 2018 Dec 27. Blood. 2019. PMID: 30591527 Free article.
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency.
Bottega R, Pecci A, De Candia E, Pujol-Moix N, Heller PG, Noris P, De Rocco D, Podda GM, Glembotsky AC, Cattaneo M, Balduini CL, Savoia A. Bottega R, et al. Among authors: balduini cl. Haematologica. 2013 Jun;98(6):868-74. doi: 10.3324/haematol.2012.075861. Epub 2012 Oct 25. Haematologica. 2013. PMID: 23100277 Free PMC article.
ANKRD26-related thrombocytopenia and myeloid malignancies.
Noris P, Favier R, Alessi MC, Geddis AE, Kunishima S, Heller PG, Giordano P, Niederhoffer KY, Bussel JB, Podda GM, Vianelli N, Kersseboom R, Pecci A, Gnan C, Marconi C, Auvrignon A, Cohen W, Yu JC, Iguchi A, Miller Imahiyerobo A, Boehlen F, Ghalloussi D, De Rocco D, Magini P, Civaschi E, Biino G, Seri M, Savoia A, Balduini CL. Noris P, et al. Among authors: balduini cl. Blood. 2013 Sep 12;122(11):1987-9. doi: 10.1182/blood-2013-04-499319. Blood. 2013. PMID: 24030261 Free article. No abstract available.
300 results