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Items: 1 to 50 of 188

1.

Sulfasalazine decreases mouse cortical hyperexcitability.

Alcoreza O, Tewari BP, Bouslog A, Savoia A, Sontheimer H, Campbell SL.

Epilepsia. 2019 Jul;60(7):1365-1377. doi: 10.1111/epi.16073. Epub 2019 Jun 18.

PMID:
31211419
2.

Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

Bottega R, Napolitano LMR, Carbone A, Cappelli E, Corsolini F, Onesti S, Savoia A, Gasparini P, Faletra F.

Mol Genet Genomic Med. 2019 May;7(5):e639. doi: 10.1002/mgg3.639. Epub 2019 Mar 28.

3.

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.

Blood. 2019 Mar 21;133(12):1346-1357. doi: 10.1182/blood-2018-07-859496. Epub 2018 Dec 27.

PMID:
30591527
4.

The overlap syndrome of urticaria and gastroesophageal reflux disease.

Aitella E, De Bartolomeis F, Savoia A, Fabiani M, Romano M, Astarita C.

PLoS One. 2018 Nov 20;13(11):e0207602. doi: 10.1371/journal.pone.0207602. eCollection 2018.

5.

ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia.

Faleschini M, Melazzini F, Marconi C, Giangregorio T, Pippucci T, Cigalini E, Pecci A, Bottega R, Ramenghi U, Siitonen T, Seri M, Pastore A, Savoia A, Noris P.

Br J Haematol. 2018 Oct;183(2):276-288. doi: 10.1111/bjh.15531. Epub 2018 Oct 23.

PMID:
30351444
6.

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
7.

MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.

Pecci A, Ma X, Savoia A, Adelstein RS.

Gene. 2018 Jul 20;664:152-167. doi: 10.1016/j.gene.2018.04.048. Epub 2018 Apr 19. Review.

8.

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.

9.

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.

10.

Quantitative comparison of PZT and CMUT probes for photoacoustic imaging: Experimental validation.

Vallet M, Varray F, Boutet J, Dinten JM, Caliano G, Savoia AS, Vray D.

Photoacoustics. 2017 Sep 22;8:48-58. doi: 10.1016/j.pacs.2017.09.001. eCollection 2017 Dec.

11.

An Experimental Protocol for Assessing the Performance of New Ultrasound Probes Based on CMUT Technology in Application to Brain Imaging.

Matrone G, Ramalli A, Savoia AS, Quaglia F, Castellazzi G, Morbini P, Piastra M.

J Vis Exp. 2017 Sep 24;(127). doi: 10.3791/55798.

PMID:
28994803
12.

Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases.

Zaninetti C, Santini V, Tiniakou M, Barozzi S, Savoia A, Pecci A.

J Thromb Haemost. 2017 Dec;15(12):2388-2392. doi: 10.1111/jth.13855. Epub 2017 Oct 28.

PMID:
28976612
13.

Effects of omalizumab treatment on serum cytokine concentrations of atopic patients with chronic spontaneous urticaria: a preliminary report.

Sellitto A, De Fanis U, Balestrieri A, Savoia A, Astarita C, Romano C.

Eur Ann Allergy Clin Immunol. 2017 Jul;49(4):171-175.

14.

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
15.

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
16.

Ultrasound plane-wave imaging with delay multiply and sum beamforming and coherent compounding.

Matrone G, Savoia AS, Caliano G, Magenes G.

Conf Proc IEEE Eng Med Biol Soc. 2016 Aug;2016:3223-3226. doi: 10.1109/EMBC.2016.7591415.

PMID:
28268994
17.

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.

18.

A Comparative Analysis of CMUT Receiving Architectures for the Design Optimization of Integrated Transceiver Front Ends.

Sautto M, Savoia AS, Quaglia F, Caliano G, Mazzanti A.

IEEE Trans Ultrason Ferroelectr Freq Control. 2017 May;64(5):826-838. doi: 10.1109/TUFFC.2017.2668769. Epub 2017 Feb 13.

PMID:
28212081
19.

High Frame-Rate, High Resolution Ultrasound Imaging With Multi-Line Transmission and Filtered-Delay Multiply And Sum Beamforming.

Matrone G, Ramalli A, Savoia AS, Tortoli P, Magenes G.

IEEE Trans Med Imaging. 2017 Feb;36(2):478-486. doi: 10.1109/TMI.2016.2615069. Epub 2016 Oct 4.

PMID:
28113492
20.

Depth-of-field enhancement in Filtered-Delay Multiply and Sum beamformed images using Synthetic Aperture Focusing.

Matrone G, Savoia AS, Caliano G, Magenes G.

Ultrasonics. 2017 Mar;75:216-225. doi: 10.1016/j.ultras.2016.11.022. Epub 2016 Nov 28.

PMID:
28011340
21.

Gray platelet syndrome: Novel mutations of the NBEAL2 gene.

Bottega R, Nicchia E, Alfano C, Glembotsky AC, Pastore A, Bertaggia-Calderara D, Bisig B, Duchosal MA, Arbesú G, Alberio L, Heller PG, Savoia A.

Am J Hematol. 2017 Feb;92(2):E20-E22. doi: 10.1002/ajh.24610. No abstract available.

22.

Biasing of Capacitive Micromachined Ultrasonic Transducers.

Caliano G, Matrone G, Savoia AS.

IEEE Trans Ultrason Ferroelectr Freq Control. 2017 Feb;64(2):402-413. doi: 10.1109/TUFFC.2016.2623221. Epub 2016 Oct 28.

PMID:
27810808
23.

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.

24.

Acoustic reflectivity minimization in Capacitive Micromachined Ultrasonic Transducers (CMUTs).

La Mura M, Lamberti NA, Mauti BL, Caliano G, Savoia AS.

Ultrasonics. 2017 Jan;73:130-139. doi: 10.1016/j.ultras.2016.09.001. Epub 2016 Sep 9.

PMID:
27643654
25.

Molecular basis of inherited thrombocytopenias: an update.

Savoia A.

Curr Opin Hematol. 2016 Sep;23(5):486-92. doi: 10.1097/MOH.0000000000000269. Review.

PMID:
27438527
26.

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
27.

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome.

Ravera S, Dufour C, Cesaro S, Bottega R, Faleschini M, Cuccarolo P, Corsolini F, Usai C, Columbaro M, Cipolli M, Savoia A, Degan P, Cappelli E.

Sci Rep. 2016 May 5;6:25441. doi: 10.1038/srep25441.

28.

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.

29.

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.

30.

Ultrasound Synthetic Aperture Focusing with the Delay Multiply and sum beamforming algorithm.

Matrone G, Savoia AS, Caliano G, Magenes G.

Conf Proc IEEE Eng Med Biol Soc. 2015;2015:137-40. doi: 10.1109/EMBC.2015.7318319.

PMID:
26736219
31.

A Low Frequency Broadband Flextensional Ultrasonic Transducer Array.

Savoia AS, Mauti B, Caliano G.

IEEE Trans Ultrason Ferroelectr Freq Control. 2016 Jan;63(1):128-38. doi: 10.1109/TUFFC.2015.2496300. Epub 2015 Oct 30.

PMID:
26540680
32.

Density-tapered spiral arrays for ultrasound 3-D imaging.

Ramalli A, Boni E, Savoia AS, Tortoli P.

IEEE Trans Ultrason Ferroelectr Freq Control. 2015 Aug;62(8):1580-8. doi: 10.1109/TUFFC.2015.007035.

PMID:
26285181
33.

Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.

Verver EJ, Topsakal V, Kunst HP, Huygen PL, Heller PG, Pujol-Moix N, Savoia A, Benazzo M, Fierro T, Grolman W, Gresele P, Pecci A.

Ear Hear. 2016 Jan-Feb;37(1):112-20. doi: 10.1097/AUD.0000000000000198.

PMID:
26226608
34.

MYH9-Related Disorders.

Savoia A, Pecci A.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 Nov 20 [updated 2015 Jul 16].

35.

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
36.

Molecular basis of inherited thrombocytopenias.

Savoia A.

Clin Genet. 2016 Feb;89(2):154-62. doi: 10.1111/cge.12607. Epub 2015 May 28. Review.

PMID:
25951879
37.

Comparative membrane proteomics: a technical advancement in the search of renal cell carcinoma biomarkers.

Raimondo F, Corbetta S, Savoia A, Chinello C, Cazzaniga M, Rocco F, Bosari S, Grasso M, Bovo G, Magni F, Pitto M.

Mol Biosyst. 2015 Jun;11(6):1708-16. doi: 10.1039/c5mb00020c.

38.

Telaprevir may induce adverse cutaneous reactions by a T cell immune-mediated mechanism.

Federico A, Aitella E, Sgambato D, Savoia A, De Bartolomeis F, Dallio M, Ruocco E, Pezone L, Abbondanza C, Loguercio C, Astarita C.

Ann Hepatol. 2015 May-Jun;14(3):420-4.

39.

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.

40.

Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome.

Hauschner H, Mor-Cohen R, Messineo S, Mansour W, Seligsohn U, Savoia A, Rosenberg N.

Blood Coagul Fibrinolysis. 2015 Apr;26(3):302-8. doi: 10.1097/MBC.0000000000000241.

PMID:
25806962
41.

Omalizumab for difficult-to-treat dermatological conditions: clinical and immunological features from a retrospective real-life experience.

Romano C, Sellitto A, De Fanis U, Balestrieri A, Savoia A, Abbadessa S, Astarita C, Lucivero G.

Clin Drug Investig. 2015 Mar;35(3):159-68. doi: 10.1007/s40261-015-0267-9.

PMID:
25578818
42.

Urinary exosomes in the diagnosis of Gitelman and Bartter syndromes.

Corbetta S, Raimondo F, Tedeschi S, Syrèn ML, Rebora P, Savoia A, Baldi L, Bettinelli A, Pitto M.

Nephrol Dial Transplant. 2015 Apr;30(4):621-30. doi: 10.1093/ndt/gfu362. Epub 2014 Nov 23.

PMID:
25422309
43.

The delay multiply and sum beamforming algorithm in ultrasound B-mode medical imaging.

Matrone G, Savoia AS, Caliano G, Magenes G.

IEEE Trans Med Imaging. 2015 Apr;34(4):940-9. doi: 10.1109/TMI.2014.2371235. Epub 2014 Nov 20.

PMID:
25420256
44.

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization.

Bottega R, Marconi C, Faleschini M, Baj G, Cagioni C, Pecci A, Pippucci T, Ramenghi U, Pardini S, Ngu L, Baronci C, Kunishima S, Balduini CL, Seri M, Savoia A, Noris P.

Blood. 2015 Jan 29;125(5):869-72. doi: 10.1182/blood-2014-08-594531. Epub 2014 Oct 31.

45.

Venom-dependent vibration-induced anaphylaxis: A new hazard following large local reactions from hymenoptera stings.

Astarita C, Savoia A, De Bartolomeis F.

J Investig Allergol Clin Immunol. 2014;24(4):282-3. No abstract available.

46.

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.

Blood. 2014 Aug 7;124(6):e4-e10. doi: 10.1182/blood-2014-03-564328. Epub 2014 Jul 2.

47.

Rituximab-induced remission of autoimmune hypophysitis and primary immune thrombocytopenia in a patient with autoimmune polyendocrine syndrome type 4.

De Bellis A, Colella C, Bellastella G, Savoia A, Guastafierro S, Cozzolino D, Bizzarro A, Bellastella A, Giugliano D.

Expert Rev Endocrinol Metab. 2014 Jul;9(4):313-317. doi: 10.1586/17446651.2014.913979. Epub 2014 Apr 30.

PMID:
30763991
48.

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
49.

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
50.

A volumetric CMUT-based ultrasound imaging system simulator with integrated reception and μ-beamforming electronics models.

Matrone G, Savoia AS, Terenzi M, Caliano G, Quaglia F, Magenes G.

IEEE Trans Ultrason Ferroelectr Freq Control. 2014 May;61(5):792-804. doi: 10.1109/TUFFC.2014.6805693.

PMID:
24803235

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