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Page 1
Recurrent activating STAT5B N642H mutation in myeloid neoplasms with eosinophilia.
Cross NCP, Hoade Y, Tapper WJ, Carreno-Tarragona G, Fanelli T, Jawhar M, Naumann N, Pieniak I, Lübke J, Ali S, Bhuller K, Burgstaller S, Cargo C, Cavenagh J, Duncombe AS, Das-Gupta E, Evans P, Forsyth P, George P, Grimley C, Jack F, Munro L, Mehra V, Patel K, Rismani A, Sciuccati G, Thomas-Dewing R, Thornton P, Virchis A, Watt S, Wallis L, Whiteway A, Zegocki K, Bain BJ, Reiter A, Chase A. Cross NCP, et al. Among authors: sciuccati g. Leukemia. 2019 Feb;33(2):415-425. doi: 10.1038/s41375-018-0342-3. Epub 2018 Dec 20. Leukemia. 2019. PMID: 30573779 Free PMC article.
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Rio-Machin A, Vulliamy T, Hug N, Walne A, Tawana K, Cardoso S, Ellison A, Pontikos N, Wang J, Tummala H, Al Seraihi AFH, Alnajar J, Bewicke-Copley F, Armes H, Barnett M, Bloor A, Bödör C, Bowen D, Fenaux P, Green A, Hallahan A, Hjorth-Hansen H, Hossain U, Killick S, Lawson S, Layton M, Male AM, Marsh J, Mehta P, Mous R, Nomdedéu JF, Owen C, Pavlu J, Payne EM, Protheroe RE, Preudhomme C, Pujol-Moix N, Renneville A, Russell N, Saggar A, Sciuccati G, Taussig D, Toze CL, Uyttebroeck A, Vandenberghe P, Schlegelberger B, Ripperger T, Steinemann D, Wu J, Mason J, Page P, Akiki S, Reay K, Cavenagh JD, Plagnol V, Caceres JF, Fitzgibbon J, Dokal I. Rio-Machin A, et al. Among authors: sciuccati g. Nat Commun. 2020 Feb 25;11(1):1044. doi: 10.1038/s41467-020-14829-5. Nat Commun. 2020. PMID: 32098966 Free PMC article.
Phenotypic and genotypic characterization of glucose-6-phosphate dehydrogenase deficiency in Argentina. Retrospective and descriptive study.
Eandi Eberle S, Pepe C, Chaves A, Aguirre F, Milanesio B, Fernández D, Ávalos Gómez V, Sciuccati G, Díaz LA, Candas A, Cervio C, Bonduel M, Feliu Torres A. Eandi Eberle S, et al. Among authors: sciuccati g. Arch Argent Pediatr. 2019 Aug 1;117(4):263-270. doi: 10.5546/aap.2019.eng.267. Arch Argent Pediatr. 2019. PMID: 31339274 Free article. English, Spanish.
[Beta thalassemia intermedia: clinical characteristics and molecular analysis. Case series].
Eandi Eberle S, Pepe C, Aguirre F, Milanesio B, Fernández D, Mansini A, Chávez A, Sciuccati G, Díaz L, Candás A, Avalos Gómez V, Bonduel M, Feliú Torres A. Eandi Eberle S, et al. Among authors: sciuccati g. Arch Argent Pediatr. 2015 Oct;113(5):e294-8. doi: 10.5546/aap.2015.e294. Arch Argent Pediatr. 2015. PMID: 26294166 Free article. Spanish.
[Glucose 6 phosphate dehydrogenase deficiency: a case series].
Eandi Eberle S, García Rosolen N, Urtasun C, Sciuccati G, Díaz L, Savietto V, Candás A, Avalos Gómez V, Cervio C, Bonduel M, Feliú Torres A. Eandi Eberle S, et al. Among authors: sciuccati g. Arch Argent Pediatr. 2011 Aug;109(4):354-6. doi: 10.5546/aap.2011.354. Arch Argent Pediatr. 2011. PMID: 21829878 Spanish.
[Severe hemolytic anemia due to hemoglobin Southampton: case report].
Avalos Gómez V, Eandi Eberle S, Pepe C, Sciuccati G, García Rosolen N, Cervio C, Díaz L, Candás A, Bonduel M, Piazza G, Chaves D, Feliú Torres A. Avalos Gómez V, et al. Among authors: sciuccati g. Arch Argent Pediatr. 2012 Oct;110(5):e91-4. doi: 10.5546/aap.2012.e91. Arch Argent Pediatr. 2012. PMID: 23070193 Free article. Spanish.
A new β(0) frameshift mutation, HBB: c.44delT (p.Leu14ArgfsX5), identified in an Argentinean family associated with secondary genetic modifiers of β-thalassemia.
Pepe C, Eberle SE, Chaves A, Milanesio B, Aguirre FM, Gómez VA, Diaz L, Mansini AP, Fernandez DA, Sciuccati G, Candas A, Cervio C, Bonduel M, Feliú-Torres A. Pepe C, et al. Among authors: sciuccati g. Hemoglobin. 2014;38(6):444-6. doi: 10.3109/03630269.2014.964361. Epub 2014 Sep 30. Hemoglobin. 2014. PMID: 25268796
[Beta thalassemia major in Argentina].
Torres FA, Bonduel M, Sciuccati G, del Pozo A, Roldán A, Ciaccio M, Orazi V, Fano V, Ozuna B, Lejarraga H, Muriel SF. Torres FA, et al. Among authors: sciuccati g. Medicina (B Aires). 2002;62(2):124-34. Medicina (B Aires). 2002. PMID: 12038033 Spanish.
36 results