Liliana Maccioni
Ricercatore Confermato SSD: MED/38 Pediatria Generale e SpecialisticaDipartimento di Scienze Biomediche e Biotecnologie
Ospedale Microcitemico
Via Jenner 09134 Cagliari
telefono : 0706095508
fax : 0706095509
e-mail: lmaccioni(at)mcweb.unica.it
ATTIVITA' DI RICERCA
TALASSEMIE – ANALISI BIOCHIMICA E BIOSINTESI DELL’EMOGLOBINA, ANALISI BIOCHIMICA E MOLECOLARE DELLE PROTEINE DELLA MEMBRANA DEL GLOBULO ROSSO, ANALISI MOLECOLARE DELL’X FRAGILE, COLTURE ERITROIDI E SPERIMENTAZIONI CON ANALOGHI DELL’ACIDO BUTIRRICO.
ELENCO DELLE 10 PUBBLICAZIONI CARATTERIZZANTI
1. MACCIONI L, GALANELLO R, MELIS MA, CAO A. Hemoglobin constitution of double heterozygotes for a or b-Thalassemia and Hb J Sardegna. Hemoglobin, 8: 497-507, 1984.
2. MACCIONI L , CAO A: Osmotic fragility test in heterozygotes for a and b - thalassemia. J. MED. GENET., 22:374-376, 1985.
3. BREGA A, SCOZZARI R, Maccioni L, JODICE C, WALLACE DC, BIANCO I, CAO A, SANTACHIARA BENERECETTI AS:Mitochondrial DNA polymorphism in Italy. Population data from Sardinia and Rome.ANN. HUM. GENET.,50:327-388,1986.
4. MACCIONI L, GALANELLO R, RUGGERI R, PUDDU R, ROSATELLI D, MARRAS A, CHIAPPE S, MACCIOTTA A, CAO A. a-Thalassemia in premature newborns.Pediatric Research, 20: 1077-81, 1986.
5. BREGA A, TORRONI A, SEMINO O, Maccioni L, CASANOVA M, SCOZZARI R, FELLOUS M, SANTACHIARA BENERECETTI AS: The p12f2/TaqIY-specific polymorphism in three groups of Italians and in a sample of Senegale.GENE. GEOGRAPHY , 1:201-206, 1987.
6. ROUSSEAU F, HEITZ D, TARLETON J, MACPHERSON J, MALMGREN H, DAHL N, BARNICOAT A, MATHEW C,MORNET E, TEJADA I, MADDALENA A, SPIEGEL R, SCHINZEL A, MARCOS J.A.G, SCHORDERET D.F, SCHAAP T, Maccioni L, RUSSO S, JACOBS P.A, SCHWARTZ C, MANDEL J.L : A multicenter study on genotype-phenotype correlations in the Fragile X Syndrome, using direct diagnosis with Probe StB 12.3 : the first 2253 case. Am. J. Hum. Genet., 55: 225-237, 1994.
7. GALANELLO R., SATTA S., PIRRONI MG., TRAVI M., MACCIONI L. Globin chain synthesis analysis by high performance liquid chromatography in the screening of Thalassemia syndromes. Hemoglobin, 22 (5&6):501-508, 1998
8. MIGLIACCIO G., DI PIETRO R., DI GIACOMO V., DI BALDASSARE A., MIGLIACCIO AR., MACCIONI L., GALANELLO R., PAPAYANNOPOULOU T. In vitro mass production of humanerythroid cells from the blood of normal donors and of thalassemic patients. Blood Cells, Molecules and Diseases, 28:169-180, 2002.
9. SEMINO O, MAGRI C, BENUZZI G, LIN A, AL-ZAHERY N, BATTAGLIA V, MACCION L, TRIANTAPHYLLIDIS C, SHEN P, OEFNER P.J, ZHIVOTOVSKY L, KING R, TORRONI A, CAVALLI-SFORZA L, UNDERHILL P, SANTACHIARA-BENERECETTI S: Origin, diffusion, and differentiation of Y-Chromosome Haplogroups E AND J: Inferences on the Neolithization of Europe and Later Migratory Events in the Mediterranean Area. AM. J.Hum. Genet. 74: 1023-1034, 2004.
10. ORIGA R, GALANELLO R,GANZ T, GIAGU N, MACCIONI L, FAA G, NEMETH E.: Liver iron concentrations and urinary hepcidin in beta-thalassemia. Haematologica 92 (05) :583-588 2007.
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