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428 results

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Page 1
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: palombo f. 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.
H3M2: detection of runs of homozygosity from whole-exome sequencing data.
Magi A, Tattini L, Palombo F, Benelli M, Gialluisi A, Giusti B, Abbate R, Seri M, Gensini GF, Romeo G, Pippucci T. Magi A, et al. Among authors: palombo f. Bioinformatics. 2014 Oct 15;30(20):2852-9. doi: 10.1093/bioinformatics/btu401. Epub 2014 Jun 24. Bioinformatics. 2014. PMID: 24966365
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
Ricos MG, Hodgson BL, Pippucci T, Saidin A, Ong YS, Heron SE, Licchetta L, Bisulli F, Bayly MA, Hughes J, Baldassari S, Palombo F; Epilepsy Electroclinical Study Group; Santucci M, Meletti S, Berkovic SF, Rubboli G, Thomas PQ, Scheffer IE, Tinuper P, Geoghegan J, Schreiber AW, Dibbens LM. Ricos MG, et al. Among authors: palombo f. Ann Neurol. 2016 Jan;79(1):120-31. doi: 10.1002/ana.24547. Epub 2015 Dec 12. Ann Neurol. 2016. PMID: 26505888
Epilepsy with auditory features: A heterogeneous clinico-molecular disease.
Pippucci T, Licchetta L, Baldassari S, Palombo F, Menghi V, D'Aurizio R, Leta C, Stipa C, Boero G, d'Orsi G, Magi A, Scheffer I, Seri M, Tinuper P, Bisulli F. Pippucci T, et al. Among authors: palombo f. Neurol Genet. 2015 May 14;1(1):e5. doi: 10.1212/NXG.0000000000000005. eCollection 2015 Jun. Neurol Genet. 2015. PMID: 27066544 Free PMC article.
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.
Melazzini F, Palombo F, Balduini A, De Rocco D, Marconi C, Noris P, Gnan C, Pippucci T, Bozzi V, Faleschini M, Barozzi S, Doubek M, Di Buduo CA, Kozubik KS, Radova L, Loffredo G, Pospisilova S, Alfano C, Seri M, Balduini CL, Pecci A, Savoia A. Melazzini F, et al. Among authors: palombo f. Haematologica. 2016 Nov;101(11):1333-1342. doi: 10.3324/haematol.2016.147496. Epub 2016 Jun 30. Haematologica. 2016. PMID: 27365488 Free PMC article.
Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.
Magini P, Palombo F, Boito S, Lanzoni G, Mongelli P, Rizzuti T, Baccarin M, Pippucci T, Seri M, Lalatta F. Magini P, et al. Among authors: palombo f. Am J Med Genet A. 2016 Dec;170(12):3258-3264. doi: 10.1002/ajmg.a.37873. Epub 2016 Sep 9. Am J Med Genet A. 2016. PMID: 27612164
Mutations of RUNX1 in families with inherited thrombocytopenia.
De Rocco D, Melazzini F, Marconi C, Pecci A, Bottega R, Gnan C, Palombo F, Giordano P, Coccioli MS, Glembotsky AC, Heller PG, Seri M, Savoia A, Noris P. De Rocco D, et al. Among authors: palombo f. Am J Hematol. 2017 Jun;92(6):E86-E88. doi: 10.1002/ajh.24703. Epub 2017 Mar 24. Am J Hematol. 2017. PMID: 28240786 Free article. No abstract available.
428 results