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Items: 39

1.

Nanometric ion pair complexes of tobramycin forming microparticles for the treatment of Pseudomonas aeruginosa infections in cystic fibrosis.

Sardo C, Di Domenico EG, Porsio B, De Rocco D, Santucci R, Ascenzioni F, Giammona G, Cavallaro G.

Int J Pharm. 2019 May 30;563:347-357. doi: 10.1016/j.ijpharm.2019.03.060. Epub 2019 Mar 29.

PMID:
30935918
2.

MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder.

Zaninetti C, De Rocco D, Giangregorio T, Bozzi V, Demeter J, Leoni P, Noris P, Ryhänen S, Barozzi S, Pecci A, Savoia A.

Hamostaseologie. 2019 Feb;39(1):87-94. doi: 10.1055/s-0038-1645840. Epub 2018 Jul 11.

PMID:
29996171
3.

Assembly and Functional Analysis of an S/MAR Based Episome with the Cystic Fibrosis Transmembrane Conductance Regulator Gene.

De Rocco D, Pompili B, Castellani S, Morini E, Cavinato L, Cimino G, Mariggiò MA, Guarnieri S, Conese M, Del Porto P, Ascenzioni F.

Int J Mol Sci. 2018 Apr 17;19(4). pii: E1220. doi: 10.3390/ijms19041220.

4.

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.

Bottega R, Nicchia E, Cappelli E, Ravera S, De Rocco D, Faleschini M, Corsolini F, Pierri F, Calvillo M, Russo G, Casazza G, Ramenghi U, Farruggia P, Dufour C, Savoia A.

Haematologica. 2018 Mar;103(3):417-426. doi: 10.3324/haematol.2017.176131. Epub 2017 Dec 21.

5.

Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim.

Pecci A, Ragab I, Bozzi V, De Rocco D, Barozzi S, Giangregorio T, Ali H, Melazzini F, Sallam M, Alfano C, Pastore A, Balduini CL, Savoia A.

EMBO Mol Med. 2018 Jan;10(1):63-75. doi: 10.15252/emmm.201708168.

6.

A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene.

Noris P, Marconi C, De Rocco D, Melazzini F, Pippucci T, Loffredo G, Giangregorio T, Pecci A, Seri M, Savoia A.

Br J Haematol. 2018 Jun;181(5):698-701. doi: 10.1111/bjh.14694. Epub 2017 May 3. No abstract available.

PMID:
28466964
7.

MYH9 gene mutations associated with bleeding.

Savoia A, De Rocco D, Pecci A.

Platelets. 2017 May;28(3):312-315. doi: 10.1080/09537104.2017.1294250. Epub 2017 Apr 3. No abstract available.

PMID:
28368695
8.

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.

Am J Hematol. 2017 Jun;92(6):E86-E88. doi: 10.1002/ajh.24703. Epub 2017 Mar 24. No abstract available.

9.

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.

Haematologica. 2016 Nov;101(11):1333-1342. Epub 2016 Jun 30.

10.

Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing.

Nicchia E, Giordano P, Greco C, De Rocco D, Savoia A.

Int J Lab Hematol. 2016 Aug;38(4):412-8. doi: 10.1111/ijlh.12516. Epub 2016 Jun 20.

PMID:
27320760
11.

Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Association of Pediatric Hematology-Oncology).

Svahn J, Bagnasco F, Cappelli E, Onofrillo D, Caruso S, Corsolini F, De Rocco D, Savoia A, Longoni D, Pillon M, Marra N, Ramenghi U, Farruggia P, Locasciulli A, Addari C, Cerri C, Mastrodicasa E, Casazza G, Verzegnassi F, Riccardi F, Haupt R, Barone A, Cesaro S, Cugno C, Dufour C.

Am J Hematol. 2016 Jul;91(7):666-71. doi: 10.1002/ajh.24373. Epub 2016 Apr 24.

12.

Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.

Nicchia E, Greco C, De Rocco D, Pecile V, D'Eustacchio A, Cappelli E, Corti P, Marra N, Ramenghi U, Pillon M, Farruggia P, Dufour C, Pallavicini A, Torelli L, Savoia A.

Mol Genet Genomic Med. 2015 Jul 2;3(6):500-12. doi: 10.1002/mgg3.160. eCollection 2015 Nov.

13.

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.

Birth Defects Res A Clin Mol Teratol. 2015 Dec;103(12):1003-10. doi: 10.1002/bdra.23388. Epub 2015 Jun 2.

PMID:
26033879
14.

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.

Noetzli L, Lo RW, Lee-Sherick AB, Callaghan M, Noris P, Savoia A, Rajpurkar M, Jones K, Gowan K, Balduini C, Pecci A, Gnan C, De Rocco D, Doubek M, Li L, Lu L, Leung R, Landolt-Marticorena C, Hunger S, Heller P, Gutierrez-Hartmann A, Xiayuan L, Pluthero FG, Rowley JW, Weyrich AS, Kahr WHA, Porter CC, Di Paola J.

Nat Genet. 2015 May;47(5):535-538. doi: 10.1038/ng.3253. Epub 2015 Mar 25.

15.

Impaired immune response to Candida albicans in cells from Fanconi anemia patients.

Parodi A, Kalli F, Svahn J, Stroppiana G, De Rocco D, Terranova P, Dufour C, Fenoglio D, Cappelli E.

Cytokine. 2015 May;73(1):203-7. doi: 10.1016/j.cyto.2015.02.016. Epub 2015 Mar 10.

PMID:
25769809
16.

Spectrum of the mutations in Bernard-Soulier syndrome.

Savoia A, Kunishima S, De Rocco D, Zieger B, Rand ML, Pujol-Moix N, Caliskan U, Tokgoz H, Pecci A, Noris P, Srivastava A, Ward C, Morel-Kopp MC, Alessi MC, Bellucci S, Beurrier P, de Maistre E, Favier R, Hézard N, Hurtaud-Roux MF, Latger-Cannard V, Lavenu-Bombled C, Proulle V, Meunier S, Négrier C, Nurden A, Randrianaivo H, Fabris F, Platokouki H, Rosenberg N, HadjKacem B, Heller PG, Karimi M, Balduini CL, Pastore A, Lanza F.

Hum Mutat. 2014 Sep;35(9):1033-45. doi: 10.1002/humu.22607. Epub 2014 Jul 15. Review.

PMID:
24934643
17.

R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.

Verver E, Pecci A, De Rocco D, Ryhänen S, Barozzi S, Kunst H, Topsakal V, Savoia A.

Clin Genet. 2015 Jul;88(1):85-9. doi: 10.1111/cge.12438. Epub 2014 Jul 26.

PMID:
24890873
18.

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.

Haematologica. 2014 Aug;99(8):1387-94. doi: 10.3324/haematol.2014.105924. Epub 2014 Apr 24.

19.

Unusual splice site mutations disrupt FANCA exon 8 definition.

Mattioli C, Pianigiani G, De Rocco D, Bianco AM, Cappelli E, Savoia A, Pagani F.

Biochim Biophys Acta. 2014 Jul;1842(7):1052-8. doi: 10.1016/j.bbadis.2014.03.014. Epub 2014 Apr 1.

20.

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

De Rocco D, Bottega R, Cappelli E, Cavani S, Criscuolo M, Nicchia E, Corsolini F, Greco C, Borriello A, Svahn J, Pillon M, Mecucci C, Casazza G, Verzegnassi F, Cugno C, Locasciulli A, Farruggia P, Longoni D, Ramenghi U, Barberi W, Tucci F, Perrotta S, Grammatico P, Hanenberg H, Della Ragione F, Dufour C, Savoia A; Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

Haematologica. 2014 Jun;99(6):1022-31. doi: 10.3324/haematol.2014.104224. Epub 2014 Feb 28. Erratum in: Haematologica. 2014 Sep;99(9):1532.

21.

Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics.

De Rocco D, Cerqua C, Goffrini P, Russo G, Pastore A, Meloni F, Nicchia E, Moraes CT, Pecci A, Salviati L, Savoia A.

Biochim Biophys Acta. 2014 Feb;1842(2):269-74. doi: 10.1016/j.bbadis.2013.12.002. Epub 2013 Dec 8.

22.

Fanconi anemia patients are more susceptible to infection with tumor virus SV40.

Comar M, De Rocco D, Cappelli E, Zanotta N, Bottega R, Svahn J, Farruggia P, Misuraca A, Corsolini F, Dufour C, Savoia A.

PLoS One. 2013 Nov 18;8(11):e79683. doi: 10.1371/journal.pone.0079683. eCollection 2013.

23.

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.

Pecci A, Klersy C, Gresele P, Lee KJ, De Rocco D, Bozzi V, Russo G, Heller PG, Loffredo G, Ballmaier M, Fabris F, Beggiato E, Kahr WH, Pujol-Moix N, Platokouki H, Van Geet C, Noris P, Yerram P, Hermans C, Gerber B, Economou M, De Groot M, Zieger B, De Candia E, Fraticelli V, Kersseboom R, Piccoli GB, Zimmermann S, Fierro T, Glembotsky AC, Vianello F, Zaninetti C, Nicchia E, Güthner C, Baronci C, Seri M, Knight PJ, Balduini CL, Savoia A.

Hum Mutat. 2014 Feb;35(2):236-47. doi: 10.1002/humu.22476. Epub 2013 Dec 12.

24.

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.

Blood. 2013 Sep 12;122(11):1987-9. doi: 10.1182/blood-2013-04-499319. No abstract available.

PMID:
24030261
25.

Apparent genotype-phenotype mismatch in a patient with MYH9-related disease: when the exception proves the rule.

Gresele P, De Rocco D, Bury L, Fierro T, Mezzasoma AM, Pecci A, Savoia A.

Thromb Haemost. 2013 Sep;110(3):618-20. doi: 10.1160/TH13-02-0175. Epub 2013 Aug 8. No abstract available.

PMID:
23925420
26.

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.

Eur J Med Genet. 2013 Jan;56(1):7-12. doi: 10.1016/j.ejmg.2012.10.009. Epub 2012 Oct 30.

27.

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.

Haematologica. 2013 Jun;98(6):868-74. doi: 10.3324/haematol.2012.075861. Epub 2012 Oct 25.

28.

International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country.

Glembotsky AC, Marta RF, Pecci A, De Rocco D, Gnan C, Espasandin YR, Goette NP, Negro F, Noris P, Savoia A, Balduini CL, Molinas FC, Heller PG.

J Thromb Haemost. 2012 Aug;10(8):1653-61. doi: 10.1111/j.1538-7836.2012.04805.x.

29.

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation).

Noris P, Perrotta S, Bottega R, Pecci A, Melazzini F, Civaschi E, Russo S, Magrin S, Loffredo G, Di Salvo V, Russo G, Casale M, De Rocco D, Grignani C, Cattaneo M, Baronci C, Dragani A, Albano V, Jankovic M, Scianguetta S, Savoia A, Balduini CL.

Haematologica. 2012 Jan;97(1):82-8. doi: 10.3324/haematol.2011.050682. Epub 2011 Sep 20.

30.

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.

Blood. 2011 Jun 16;117(24):6673-80. doi: 10.1182/blood-2011-02-336537. Epub 2011 Apr 5.

PMID:
21467542
31.

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

Pippucci T, Savoia A, Perrotta S, Pujol-Moix N, Noris P, Castegnaro G, Pecci A, Gnan C, Punzo F, Marconi C, Gherardi S, Loffredo G, De Rocco D, Scianguetta S, Barozzi S, Magini P, Bozzi V, Dezzani L, Di Stazio M, Ferraro M, Perini G, Seri M, Balduini CL.

Am J Hum Genet. 2011 Jan 7;88(1):115-20. doi: 10.1016/j.ajhg.2010.12.006.

32.

Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations.

Savoia A, Pastore A, De Rocco D, Civaschi E, Di Stazio M, Bottega R, Melazzini F, Bozzi V, Pecci A, Magrin S, Balduini CL, Noris P.

Haematologica. 2011 Mar;96(3):417-23. doi: 10.3324/haematol.2010.032631. Epub 2010 Dec 20.

33.

A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect.

Vettore S, De Rocco D, Gerber B, Scandellari R, Bianco AM, Balduini CL, Pecci A, Fabris F, Savoia A.

Eur J Med Genet. 2010 Sep-Oct;53(5):256-60. doi: 10.1016/j.ejmg.2010.06.010. Epub 2010 Jul 21.

PMID:
20603234
34.

MYH9-related disease: Report on five German families and description of a novel mutation.

Savoia A, Germeshausen M, De Rocco D, Henschel B, Kratz CP, Kuhlen M, Rath B, Steuhl KP, Wermes C, Ballmaier M.

Ann Hematol. 2010 Oct;89(10):1057-9. doi: 10.1007/s00277-010-0928-y. Epub 2010 Mar 10. No abstract available.

PMID:
20221761
35.

Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.

Savoia A, De Rocco D, Panza E, Bozzi V, Scandellari R, Loffredo G, Mumford A, Heller PG, Noris P, De Groot MR, Giani M, Freddi P, Scognamiglio F, Riondino S, Pujol-Moix N, Fabris F, Seri M, Balduini CL, Pecci A.

Thromb Haemost. 2010 Apr;103(4):826-32. doi: 10.1160/TH09-08-0593. Epub 2010 Feb 19.

PMID:
20174760
36.

MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype.

Pecci A, Panza E, De Rocco D, Pujol-Moix N, Girotto G, Podda L, Paparo C, Bozzi V, Pastore A, Balduini CL, Seri M, Savoia A.

Eur J Haematol. 2010 Apr;84(4):291-7. doi: 10.1111/j.1600-0609.2009.01398.x. Epub 2009 Dec 11.

PMID:
20002731
37.

Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA.

Kahr WH, Savoia A, Pluthero FG, Li L, Christensen H, De Rocco D, Traivaree C, Butchart SE, Curtin J, Stollar EJ, Forman-Kay JD, Blanchette VS.

Thromb Haemost. 2009 Dec;102(6):1241-50. doi: 10.1160/TH09-02-0119.

PMID:
19967157
38.

MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene.

de Rocco D, Heller PG, Girotto G, Pastore A, Glembotsky AC, Marta RF, Bozzi V, Pecci A, Molinas FC, Savoia A.

Platelets. 2009 Dec;20(8):598-602. doi: 10.3109/09537100903349620.

PMID:
19860543
39.

Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene.

De Rocco D, Pujol-Moix N, Pecci A, Faletra F, Bozzi V, Balduini CL, Savoia A.

Eur J Med Genet. 2009 Jul-Aug;52(4):191-4. doi: 10.1016/j.ejmg.2009.01.006. Epub 2009 Feb 9.

PMID:
19450438

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