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Results: 1-16 |
Results: 16
Reversible erythrocyte skeleton destabilization is modulated by beta-spectrin phosphorylation in childhood leukemia
Authors: Perrotta, S del Giudice, EM Iolascon, A De Vivo, M Di Pinto, D Cutillo, S Nobili, B
Citation: S. Perrotta et al., Reversible erythrocyte skeleton destabilization is modulated by beta-spectrin phosphorylation in childhood leukemia, LEUKEMIA, 15(3), 2001, pp. 440-444
Molecular screening of the proopiomelanocortin (POMC) gene in Italian obese children: report of three new mutations
Authors: del Giudice, EM Cirillo, G Santoro, N D'Urso, L Carbone, MT Di Toro, R Perrone, L
Citation: Em. Del Giudice et al., Molecular screening of the proopiomelanocortin (POMC) gene in Italian obese children: report of three new mutations, INT J OBES, 25(1), 2001, pp. 61-67
Evaluation of body iron status in Italian carriers of beta-thalassemia trait
Authors: Nobili, B Perrotta, S Matarese, SMR Conte, ML del Giudice, EM
Citation: B. Nobili et al., Evaluation of body iron status in Italian carriers of beta-thalassemia trait, NUTR RES, 21(1-2), 2001, pp. 55-60
Mutational screening of the CART gene in obese children - Identifying a mutation (Leu34Phe) associated with reduced resting energy expenditure and cosegregating with obesity phenotype in a large family
Authors: del Giudice, EM Santoro, N Cirillo, G D'Urso, L Di Toro, R Perrone, L
Citation: Em. Del Giudice et al., Mutational screening of the CART gene in obese children - Identifying a mutation (Leu34Phe) associated with reduced resting energy expenditure and cosegregating with obesity phenotype in a large family, DIABETES, 50(9), 2001, pp. 2157-2160
Clinical and molecular evaluation of non-dominant hereditary spherocytosis
Authors: del Giudice, EM Nobili, B Francese, M D'Urso, L Iolascon, A Eber, S Perrotta, S
Citation: Em. Del Giudice et al., Clinical and molecular evaluation of non-dominant hereditary spherocytosis, BR J HAEM, 112(1), 2001, pp. 42-47
Benign familial neonatal convulsions (BFNC) resulting from mutation of theKCNQ2 voltage sensor
Authors: del Giudice, EM Coppola, G Scuccimarra, G Cirillo, G Bellini, G Pascotto, A
Citation: Em. Del Giudice et al., Benign familial neonatal convulsions (BFNC) resulting from mutation of theKCNQ2 voltage sensor, EUR J HUM G, 8(12), 2000, pp. 994-997
Frequency of Gilbert's syndrome associated with UGTA1 (TA)(7) polymorphismin Southern Italy
Authors: Iolascon, A Perrotta, S Coppola, B Carbone, R del Giudice, EM
Citation: A. Iolascon et al., Frequency of Gilbert's syndrome associated with UGTA1 (TA)(7) polymorphismin Southern Italy, HAEMATOLOG, 85(3), 2000, pp. 335-336
Linkage study of early-onset obesity to leptin receptor gene in Italian children
Authors: del Giudice, EM Perrone, L Forabosco, P Devoto, M Carbone, MT Calabro, C Di Toro, R
Citation: Em. Del Giudice et al., Linkage study of early-onset obesity to leptin receptor gene in Italian children, NUTR RES, 20(8), 2000, pp. 1059-1063
Gilbert's syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II)
Authors: Perrotta, S del Giudice, EM Carbone, R Servedio, V Schettini, F Nobili, B Iolascon, A
Citation: S. Perrotta et al., Gilbert's syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II), J PEDIAT, 136(4), 2000, pp. 556-559
Bilirubin levels in the acute hemolytic crisis of G6PD deficiency are related to Gilbert's syndrome
Authors: Iolascon, A Faienza, MF Giordani, L Perrotta, S Ruggiu, G Meloni, GF del Giudice, EM
Citation: A. Iolascon et al., Bilirubin levels in the acute hemolytic crisis of G6PD deficiency are related to Gilbert's syndrome, EUR J HAEMA, 62(5), 1999, pp. 307-310
4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis
Authors: Perrotta, S Iolascon, A Polito, R d'Urzo, G Conte, ML del Giudice, EM
Citation: S. Perrotta et al., 4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis, HAEMATOLOG, 84(7), 1999, pp. 660-662
Gilbert's syndrome and jaundice in glucose-6-phosphate dehydrogenase deficient neonates
Authors: Iolascon, A Faienza, MF Perrotta, S Meloni, GF Ruggiu, G del Giudice, EM
Citation: A. Iolascon et al., Gilbert's syndrome and jaundice in glucose-6-phosphate dehydrogenase deficient neonates, HAEMATOLOG, 84(2), 1999, pp. 99-102
Suppression of CDA II expression in a homozygote
Authors: Beauchamp-Nicoud, A Schischmanoff, PO Alloisio, N Boivin, P Parsons, SF Mielot, F Tchernia, G Legrand, A del Giudice, EM Gasparini, P Iolascon, A Wickramasinghe, SN Delaunay, J
Citation: A. Beauchamp-nicoud et al., Suppression of CDA II expression in a homozygote, BR J HAEM, 106(4), 1999, pp. 948-953
Evaluation of leptin protein levels in patients with Cooley's anaemia
Authors: del Giudice, EM Perrotta, S Carbone, MT Calabro, C Esposito, L De Rosa, C Saviano, A Di Toro, R Perrone, L
Citation: Em. Del Giudice et al., Evaluation of leptin protein levels in patients with Cooley's anaemia, BR J HAEM, 105(3), 1999, pp. 839-840
Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis
Authors: del Giudice, EM Perrotta, S Nobili, B Specchia, C d'Urzo, G Iolascon, A
Citation: Em. Del Giudice et al., Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis, BLOOD, 94(7), 1999, pp. 2259-2262
Hereditary spherocytosis due to a novel frameshift mutation in AE1 cytoplasmic COOH terminal tail: Band 3 Vesuvio
Authors: Perrotta, S Polito, R Conte, ML Nobili, B Cutillo, S del Giudice, EM Nigro, V Iolascon, A Amendola, G
Citation: S. Perrotta et al., Hereditary spherocytosis due to a novel frameshift mutation in AE1 cytoplasmic COOH terminal tail: Band 3 Vesuvio, BLOOD, 93(6), 1999, pp. 2131-2132
Risultati: 1-16 |