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Tiziana Fanelli

Explore the profile of Tiziana Fanelli including associated specialties, affiliations and a list of published articles. Areas
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Articles 30
Citations 986
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Recent Articles
1.
Salsi G, Volpe G, Montaguti E, Fanelli T, Toni F, Maffei M, et al.
Fetal Diagn Ther . 2021 Jun; 48(6):485-492. PMID: 34182549
Introduction: The objective of the study was to provide more detailed data about fetal isolated upward rotation of the cerebellar vermis rotation (Blake's pouch cyst) in particular regarding pregnancy outcome....
2.
Gentile M, Fanelli T, Lepri F, Gentile A, Orsini P, Volpe P, et al.
Am J Med Genet A . 2021 Mar; 185(6):1897-1902. PMID: 33750022
RASopathies are a group of syndromes with partially overlapping clinical features caused by germline mutations of the RAS/MAPK signaling pathway genes. The most common disorder is Noonan syndrome (NS; MIM...
3.
Volpe P, Persico N, Fanelli T, de Robertis V, DAlessandro J, Boito S, et al.
Am J Obstet Gynecol MFM . 2020 Dec; 1(2):173-181. PMID: 33345823
Background: The role of the first-trimester scan has expanded from aneuploidy screening to the diagnosis of fetal malformations. Abnormal appearance of the posterior brain at 11-14 weeks gestation is a...
4.
de Robertis V, Rembouskos G, Fanelli T, Votino C, Volpe P
Fetal Diagn Ther . 2019 Mar; 46(6):353-359. PMID: 30852571
Objective: To evaluate the presence of maxillary gap (MG) and abnormal retronasal triangle (RT) as markers of cleft palate (CP) with and without cleft lip in the first trimester and...
5.
Cross N, Hoade Y, Tapper W, Carreno-Tarragona G, Fanelli T, Jawhar M, et al.
Leukemia . 2018 Dec; 33(2):415-425. PMID: 30573779
Determining the underlying cause of persistent eosinophilia is important for effective clinical management but remains a diagnostic challenge in many cases. We identified STAT5B N642H, an established oncogenic mutation, in...
6.
Pacilli A, Rotunno G, Mannarelli C, Fanelli T, Pancrazzi A, Contini E, et al.
Blood Cancer J . 2018 Nov; 8(12):122. PMID: 30467377
Refractoriness to ruxolitinib in patients with myelofibrosis (MF) was associated with clonal evolution; however, whether genetic instability is promoted by ruxolitinib remains unsettled. We evaluated the mutation landscape in 71...
7.
Tefferi A, Lasho T, Guglielmelli P, Finke C, Rotunno G, Elala Y, et al.
Blood Adv . 2018 Jan; 1(1):21-30. PMID: 29296692
Polycythemia vera (PV) is characterized by and essential thrombocythemia (ET) by , calreticulin (), and myeloproliferative leukemia virus oncogene () mutations; we describe the occurrence and prognostic relevance of DNA...
8.
Zini R, Guglielmelli P, Pietra D, Rumi E, Rossi C, Rontauroli S, et al.
Blood Cancer J . 2017 Dec; 7(12):638. PMID: 29217833
Polycythemia vera (PV) and essential thrombocythemia (ET) are Philadelphia-negative myeloproliferative neoplasms (MPNs) characterized by erythrocytosis and thrombocytosis, respectively. Approximately 95% of PV and 50-70% of ET patients harbor the V617F...
9.
Tefferi A, Nicolosi M, Mudireddy M, Szuber N, Finke C, Lasho T, et al.
Am J Hematol . 2017 Nov; 93(3):348-355. PMID: 29164670
The 2013 discovery of calreticulin (CALR) mutations in myeloproliferative neoplasms was attended by their association with longer survival in primary myelofibrosis (PMF). Subsequent studies have suggested prognostic distinction between type...
10.
de Robertis V, Rembouskos G, Fanelli T, Volpe G, Muto B, Volpe P
Prenat Diagn . 2017 May; 37(7):693-698. PMID: 28505706
Objective: The aim of the study was to evaluate the feasibility of obtaining the three-vessel and trachea view (3VTV) in an unselected population undergoing first trimester screening for aneuploidy, and...