CAMASCHELLA, CLARA

CAMASCHELLA, CLARA  

Facoltà di Medicina e Chirurgia  

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A -25G>A hepcidin promoter mutation in a Portuguese patient with juvenile hemochromatosis, Turner syndrome and severe lymphopenia 1-gen-2005 Porto, G; Roetto, A; Daraio, F; Pinto, Jp; Almeida, S; Bacelar, C; Nemeth, E; Camaschella, Clara
A benign form of thalassaemia intermedia may be determined by the interaction of triplicated alpha locus and heterozygous beta-thalassaemia 1-gen-1987 Camaschella, Clara; Bertero, Mt; Serra, A; Dall'Acqua, M; Gasparini, P; Trento, M; Vettore, L; Perona, G; Saglio, G; Mazza, U.
A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemia 1-gen-1988 Ottolenghi, S; Camaschella, Clara; Comi, P; Giglioni, B; Longinotti, M; Oggiano, L; Dore, F; Sciarratta, G; Ivaldi, G; Saglio, G.
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. 1-gen-2013 Porcu, E; Medici, M; Pistis, G; Volpato, Cb; Wilson, Sg; Cappola, Ar; Bos, Sd; Deelen, J; DEN HEIJER, M; Freathy, Rm; Lahti, J; Liu, C; Lopez, Lm; Nolte, Im; O'Connell, Jr; Tanaka, T; Trompet, S; Arnold, A; Bandinelli, S; Beekman, M; Böhringer, S; Brown, Sj; Buckley, Bm; Camaschella, Clara; DE CRAEN, Aj; Davies, G; DE VISSER, Mc; Ford, I; Forsen, T; Frayling, Tm; Fugazzola, L; Gögele, M; Hattersley, At; Hermus, Ar; Hofman, A; HOUWING DUISTERMAAT, Jj; Jensen, Ra; Kajantie, E; Kloppenburg, M; Lim, Em; Masciullo, C; Mariotti, S; Minelli, C; Mitchell, Bd; Nagaraja, R; NETEA MAIER, Rt; Palotie, A; Persani, L; Piras, Mg; Psaty, Bm; Räikkönen, K; Richards, Jb; Rivadeneira, F; Sala, C; Sabra, Mm; Sattar, N; Shields, Bm; Soranzo, N; Starr, Jm; Stott, Dj; Sweep, Fc; Usala, G; VAN DER KLAUW, Mm; VAN HEEMST, D; VAN MULLEM, A; Vermeulen, Sh; Visser, We; Walsh, Jp; Westendorp, Rg; Widen, E; Zhai, G; Cucca, F; Deary, Ij; Eriksson, Jg; Ferrucci, L; Fox, Cs; Jukema, Jw; Kiemeney, La; Pramstaller, Pp; Schlessinger, D; Shuldiner, Ar; Slagboom, Ep; Uitterlinden, Ag; Vaidya, B; Visser, Tj; Wolffenbuttel, Bh; Meulenbelt, I; Rotter, Ji; Spector, Td; Hicks, Aa; Toniolo, D; Sanna, S; Peeters, Rp; Naitza, S.
A molecular study of a family with Greek hereditary persistence of fetal hemoglobin and beta-thalassemia. 1-gen-1984 Giglioni, B; Casini, C; Mantovani, R; Merli, S; Comi, P; Ottolenghi, S; Saglio, G; Camaschella, Clara; Mazza, U.
A new complex polymorphic repeat close to HLA-A and HLA-E loci 1-gen-1994 Totaro, A; Grifa, A; Roetto, A; Zelante, L; Camaschella, Clara; Gasparini, P.
A new G51C mutation in the IRE of L-ferritin in hyperferritinemia cataract syndrome decreases the binding affinity of the mutant IRE to IRP. 1-gen-1999 Camaschella, Clara; Zecchina, G; Lockitch, G; Roetto, A; Campanella, A; Arosio, P; Levi, SONIA MARIA ROSA
A new hereditary persistence of fetal hemoglobin deletion has the breakpoint within the 3' beta-globin gene enhancer 1-gen-1990 Camaschella, Clara; Serra, A; Gottardi, E; Alfarano, A; Revello, D; Mazza, U; Saglio, G.
A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins 1-gen-2000 Camaschella, Clara; Zecchina, G; Lockitch, G; Roetto, A; Campanella, A; Arosio, P; Levi, SONIA MARIA ROSA
A new mutation in the IRE of L-ferritin (G51C) associated with hyperferritinemia-cataract syndrome decreases the binding affinity of IRE to IRPS 1-gen-2000 Camaschella, Clara; ., ZECCHINA G; Lockitch, G; Campanella, A.; Arosio, P.; Levi, SONIA MARIA ROSA
A new mutation trans to I278T cystathionine beta-synthase associated with factor V Leiden causes mild homocystrinuria but severe vascular disease 1-gen-2001 Bosio, S; Cavallero, G; Brusa, F; Alberti, F; Camaschella, Clara
A newly characterized alpha-thalassemia-1 deletion removes the entire alpha-like globin gene cluster in an Italian family 1-gen-1991 Fortina, P; Dianzani, I; Serra, A; Gottardi, E; Saglio, G; Farinasso, L; Piga, A; Gabutti, V; Camaschella, Clara
A novel missense mutation in the phenylalanine hydroxilase gene leading to complete loss of enzymatic activity 1-gen-1995 Dianzani, I; Knappskog, Pm; de Sanctis, L; Giannattasio, S; Riva, E; Ponzone, A; Apold, J; Camaschella, Clara
A novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload 1-gen-2006 LAM YUK TSEUNG, S; Camaschella, Clara; Iolascon, A; Gros, P.
A potential pathogenetic role of iron in Alzheimer's disease 1-gen-2008 Silvestri, L; Camaschella, Clara
A spontaneous mutation causing unstable Hb Hammersmith: detection of the alpha 42 TTT->TCT change by CCM and direct sequencing 1-gen-1991 Dianzani, I; Ramus, S; Cotton, Rgh; Camaschella, Clara
A strong anti-inflammatory signature revealed by liver transcription profiling of Tmprss6-/- mice. 1-gen-2013 Riba, M; Rausa, M; Sorosina, M; Cittaro, D; Garcia Manteiga, Jm; Nai, A; Pagani, A; Martinelli Boneschi, F; Stupka, E; Camaschella, Clara; Silvestri, L.
A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis. 1-gen-2011 Girelli, D; Trombini, P; Busti, F; Campostrini, N; Sandri, M; Pelucchi, S; Westermann, M; Ganz, T; Nemeth, E; Piperno, A; Camaschella, Clara
A unique origin for the Sicilian (deltabeta)-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis 1-gen-1994 Esposito, G; Grosso, M; Gottardi, E; Izzo, P; Camaschella, Clara; Salvatore, F.
A valine deletion of ferroportin 1 is a common mutation in hemochromatosis type 4 1-gen-2002 Roetto, A; Livesey, K; MERRYWEATHER CLARKE, At; Daraio, F; Barbabietola, G; Longo, F; Robson, Khj; Camaschella, Clara