Sfoglia per Autore
Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis
1996 MIRAGLIA DEL GIUDICE, Emanuele; Hayette, S; Bozon, M; Perrotta, Silverio; Alloisio, N; Vallier, A; Iolascon, A; Delaunay, J; Morlé, L.
The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum
1996 Alloisio, N; Texier, P; Denoroy, L; Berger, C; MIRAGLIA DEL GIUDICE, Emanuele; Perrotta, Silverio; Iolascon, A; Gilsanz, F; Berger, G; Guichard, J.
Cytoskeletal behaviour in spectrin and in band 3 deficient spherocytic red cells: Evidence for a differentiated splenic conditioning role
1996 Ingrosso, Diego; D'Angelo, S.; Perrotta, Silverio; D'Urzo, G.; Iolascon, A.; Perna, Alessandra; Galletti, P.; Zappia, V.; MIRAGLIA DEL GIUDICE, Emanuele
Increased membrane protein phosphorylation and anion transport activity in chorea-acanthocytosis
1997 Olivieri, O; DE FRANCESCHI, L; Bordin, L; Manfredi, M; MIRAGLIA DEL GIUDICE, Emanuele; Perrotta, Silverio; DE VIVO, M; Guarini, P; Corrocher, R.
Apparently normal ankyrin content in unsplenectomized hereditary spherocytosis patients with the inactivation of one ankyrin (ANK1) allele
1997 MIRAGLIA DEL GIUDICE, Emanuele; Francese, M; Polito, R; Nobili, Bruno; Iolascon, A; Perrotta, Silverio
Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus
1997 MIRAGLIA DEL GIUDICE, Emanuele; Vallier, A; Maillet, P; Perrotta, Silverio; Cutillo, S; Iolascon, A; Tanner, Mj; Delaunay, J; Alloisio, N.
Membrane cation and anion transport activities in erythrocytes of hereditary spherocytosis: effects of different membrane protein defects
1997 DE FRANCESCHI, L; Olivieri, O; MIRAGLIA DEL GIUDICE, Emanuele; Perrotta, Silverio; Sabato, V; Corrocher, R; Iolascon, A.
Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDA-II)
1997 Iolascon, A; MIRAGLIA DEL GIUDICE, Emanuele; Perrotta, Silverio; Granatiero, M; Zelante, L; Gasparini, P.
Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: three new ANK1 variants: ankyrins Bari, Napoli II and Anzio
1997 Randon, J; MIRAGLIA DEL GIUDICE, Emanuele; Bozon, M; Perrotta, Silverio; DE VIVO, M; Iolascon, A; Delaunay, J; Morle, L.
High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis
1998 MIRAGLIA DEL GIUDICE, Emanuele; Francese, M; Nobili, Bruno; Morle, L; Cutillo, S; Delaunay, J; Perrotta, Silverio
Genetic heterogeneity of congenital dyserythropoietic anemia type II
1998 Iolascon, A; DE MATTIA, D; Perrotta, Silverio; Carella, M; Gasparini, P; LAMBERTENGHI DELILIERS, G.
DECISION MAKING AT THE BEDSIDE: DIAGNOSIS OF HEREDITARY SPHEROCYTOSIS IN A TRANSFUSED INFANT
1998 MIRAGLIA DEL GIUDICE, Emanuele; Perrotta, Silverio; Lombardi, C; Iolascon, A.
UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis
1998 Iolascon, A; Faienza, Mf; Moretti, A; Perrotta, Silverio; MIRAGLIA DEL GIUDICE, Emanuele
Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter)
1998 Carella, M; Stewart, G; Ajetunmobi, Jf; Perrotta, Silverio; Grootenboer, S; Tchernia, G; Delaunay, J; Totaro, A; Zelante, L; Gasparini, P; Iolascon, A.
Hereditary spherocytosis: from clinical to molecular defects
1998 Iolascon, A; MIRAGLIA DEL GIUDICE, Emanuele; Perrotta, Silverio; Alloisio, N; Morlé, L; Delaunay, J.
Decreased band 3 anion transport activity and band 3 clusterization in congenital dyserythropoietic anemia type II
1998 DE FRANCESCHI, L; Turrini, F; MIRAGLIA DEL GIUDICE, Emanuele; Perrotta, Silverio; Olivieri, O; Corrocher, R; Mannu, F; Iolascon, A.
Frequent de novo monoallelic expression of beta-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency
1998 MIRAGLIA DEL GIUDICE, Emanuele; Lombardi, C; Francese, M; Nobili, Bruno; Conte, Ml; Amendola, G; Cutillo, S; Iolascon, A; Perrotta, Silverio
Osteoporosis in thalassema major: Evaluation of genetic factors.
1999 Iolascon, A; Iolascon, Giovanni; Servidio, V; Perrotta, Silverio; D'Agruma, L; Gasparini, P; De Rosa, C; Siciliano, Mc; Danesi, L; Cappellini, Md
Le anemie diseritropoietiche
1999 Iolascon, A; Servedio, V; Moretti, A; Carbone, R; MIRAGLIA DEL GIUDICE, Emanuele; Perrotta, Silverio; Nobili, Bruno; Gasparini, P.
Evaluation of leptin protein levels in patients with Cooley's anaemia
1999 MIRAGLIA DEL GIUDICE, Emanuele; Perrotta, Silverio; Carbone, Mt; Calabro, C; Esposito, L; DE ROSA, C; Saviano, A; DI TORO, R; Perrone, Laura
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis | 1-gen-1996 | MIRAGLIA DEL GIUDICE, Emanuele; Hayette, S; Bozon, M; Perrotta, Silverio; Alloisio, N; Vallier, A; Iolascon, A; Delaunay, J; Morlé, L. | |
The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum | 1-gen-1996 | Alloisio, N; Texier, P; Denoroy, L; Berger, C; MIRAGLIA DEL GIUDICE, Emanuele; Perrotta, Silverio; Iolascon, A; Gilsanz, F; Berger, G; Guichard, J. | |
Cytoskeletal behaviour in spectrin and in band 3 deficient spherocytic red cells: Evidence for a differentiated splenic conditioning role | 1-gen-1996 | Ingrosso, Diego; D'Angelo, S.; Perrotta, Silverio; D'Urzo, G.; Iolascon, A.; Perna, Alessandra; Galletti, P.; Zappia, V.; MIRAGLIA DEL GIUDICE, Emanuele | |
Increased membrane protein phosphorylation and anion transport activity in chorea-acanthocytosis | 1-gen-1997 | Olivieri, O; DE FRANCESCHI, L; Bordin, L; Manfredi, M; MIRAGLIA DEL GIUDICE, Emanuele; Perrotta, Silverio; DE VIVO, M; Guarini, P; Corrocher, R. | |
Apparently normal ankyrin content in unsplenectomized hereditary spherocytosis patients with the inactivation of one ankyrin (ANK1) allele | 1-gen-1997 | MIRAGLIA DEL GIUDICE, Emanuele; Francese, M; Polito, R; Nobili, Bruno; Iolascon, A; Perrotta, Silverio | |
Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus | 1-gen-1997 | MIRAGLIA DEL GIUDICE, Emanuele; Vallier, A; Maillet, P; Perrotta, Silverio; Cutillo, S; Iolascon, A; Tanner, Mj; Delaunay, J; Alloisio, N. | |
Membrane cation and anion transport activities in erythrocytes of hereditary spherocytosis: effects of different membrane protein defects | 1-gen-1997 | DE FRANCESCHI, L; Olivieri, O; MIRAGLIA DEL GIUDICE, Emanuele; Perrotta, Silverio; Sabato, V; Corrocher, R; Iolascon, A. | |
Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDA-II) | 1-gen-1997 | Iolascon, A; MIRAGLIA DEL GIUDICE, Emanuele; Perrotta, Silverio; Granatiero, M; Zelante, L; Gasparini, P. | |
Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: three new ANK1 variants: ankyrins Bari, Napoli II and Anzio | 1-gen-1997 | Randon, J; MIRAGLIA DEL GIUDICE, Emanuele; Bozon, M; Perrotta, Silverio; DE VIVO, M; Iolascon, A; Delaunay, J; Morle, L. | |
High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis | 1-gen-1998 | MIRAGLIA DEL GIUDICE, Emanuele; Francese, M; Nobili, Bruno; Morle, L; Cutillo, S; Delaunay, J; Perrotta, Silverio | |
Genetic heterogeneity of congenital dyserythropoietic anemia type II | 1-gen-1998 | Iolascon, A; DE MATTIA, D; Perrotta, Silverio; Carella, M; Gasparini, P; LAMBERTENGHI DELILIERS, G. | |
DECISION MAKING AT THE BEDSIDE: DIAGNOSIS OF HEREDITARY SPHEROCYTOSIS IN A TRANSFUSED INFANT | 1-gen-1998 | MIRAGLIA DEL GIUDICE, Emanuele; Perrotta, Silverio; Lombardi, C; Iolascon, A. | |
UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis | 1-gen-1998 | Iolascon, A; Faienza, Mf; Moretti, A; Perrotta, Silverio; MIRAGLIA DEL GIUDICE, Emanuele | |
Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter) | 1-gen-1998 | Carella, M; Stewart, G; Ajetunmobi, Jf; Perrotta, Silverio; Grootenboer, S; Tchernia, G; Delaunay, J; Totaro, A; Zelante, L; Gasparini, P; Iolascon, A. | |
Hereditary spherocytosis: from clinical to molecular defects | 1-gen-1998 | Iolascon, A; MIRAGLIA DEL GIUDICE, Emanuele; Perrotta, Silverio; Alloisio, N; Morlé, L; Delaunay, J. | |
Decreased band 3 anion transport activity and band 3 clusterization in congenital dyserythropoietic anemia type II | 1-gen-1998 | DE FRANCESCHI, L; Turrini, F; MIRAGLIA DEL GIUDICE, Emanuele; Perrotta, Silverio; Olivieri, O; Corrocher, R; Mannu, F; Iolascon, A. | |
Frequent de novo monoallelic expression of beta-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency | 1-gen-1998 | MIRAGLIA DEL GIUDICE, Emanuele; Lombardi, C; Francese, M; Nobili, Bruno; Conte, Ml; Amendola, G; Cutillo, S; Iolascon, A; Perrotta, Silverio | |
Osteoporosis in thalassema major: Evaluation of genetic factors. | 1-gen-1999 | Iolascon, A; Iolascon, Giovanni; Servidio, V; Perrotta, Silverio; D'Agruma, L; Gasparini, P; De Rosa, C; Siciliano, Mc; Danesi, L; Cappellini, Md | |
Le anemie diseritropoietiche | 1-gen-1999 | Iolascon, A; Servedio, V; Moretti, A; Carbone, R; MIRAGLIA DEL GIUDICE, Emanuele; Perrotta, Silverio; Nobili, Bruno; Gasparini, P. | |
Evaluation of leptin protein levels in patients with Cooley's anaemia | 1-gen-1999 | MIRAGLIA DEL GIUDICE, Emanuele; Perrotta, Silverio; Carbone, Mt; Calabro, C; Esposito, L; DE ROSA, C; Saviano, A; DI TORO, R; Perrone, Laura |
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