Sfoglia per Autore
Screening of the C282Y mutation in the HFE gene in Italy by Taqman technology.
1999-01-01 G. Restagno;A. M. Gomez;L. Sbaiz;S. Bosso;C. Negro;P. Fortina;P. Gasparini;M. Cicilano;M. De Gobbi;C. Camaschella
Diagnosis and management of haemochromatosis since the discovery of the HFE gene: a european experience
2000-01-01 The European and UK Haemochromatosis Consortia; represented by: Robson K.J.H.; Merryweather-Clarke A.T.; Pointon J.J.; Shearman J.D.; Halsall D.J.; Kelly A.; Cox T.M.; Rosenberg W.M.; Howell M.; Eccles D.; Patch C.; Fowler A.V.; Wallace D.F.; Camaschella C.; Roetto A.; Zecchina G.; De Gobbi M.; Gasparini P.; Cadet E.; Vandwalle J.L.; Capron D.; Rochette J.; Borot N.; Demangel C.; Dery R.; Vinel J.P.; Pascal J.P.;Coppin H.; Roth M.P
A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan technology.
2000-01-01 Restagno G; Gomez AM; Sbaiz L; De Gobbi M; Roetto A; Bertino E; Fabris C; Fiorucci GC; Fortina P; Camaschella C.
Hereditary hemochromatosis: progress and perspectives
2000-01-01 Clara Camaschella; Marco De Gobbi; Antonella Roetto
Non-HFE hemochromatosis: insights into regulation on iron metabolisms from novel iron loading disorders.
2000-01-01 Camaschella C.; Roetto A.; De Gobbi M.; Calì A.; Totaro A.; Gasparini P
Molecular and clinical studies in hemochromatosis type 2 and 3
2000-01-01 De Gobbi M; Roetto A; Calì A; Daraio F; Barilaro MR; Totaro A; Gasparini P; Cazzola M; Camaschella C
Mutations in transferrin receptor-2 in hemochromatosis type 3.
2000-01-01 A. Roetto;C. Camaschella;A. Cali;M. De Gobbi;M. Carella;N. Majorano;A. Totaro;P. Gasparini
Juvenile hemochromatosis associated with B-thalassemia treated by phlebotomy and recombinant human erythropoietin.
2000-01-01 DE GOBBI M; PASQUERO P; BRUNELLO F; PACCOTTI P; MAZZA U; CAMASCHELLA C.
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.
2000-01-01 C. Camaschella;A. Roetto;A. Calì;M. De Gobbi;G. Garozzo;M. Carella;N. Majorano;A. Totaro;P. Gasparini
TFR2 Y250X mutation in Italy.
2001-01-01 M. De Gobbi;M. R. Barilaro;G. Garozzo;L. Sbaiz;F. Alberti;C. Camaschella
Hereditary Hemochromatosis
2001-01-01 Camaschella C; De Gobbi M; Roetto A
New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.
2001-01-01 ROETTO A.; TOTARO A.; PIPERNO A.; PIGA A.; LONGO F.; GAROZZO G.; CALI A.; DE GOBBI M.; GASPARINI P.; CAMASCHELLA C.
HETEROZYGOUS β-THALASSEMIA AND HOMOZYGOUS H63D HEMOCHROMATOSIS IN A CHILD: A 16-YEAR FOLLOW-UP
2001-01-01 I. Tardivo; M. De Gobbi; A. Roetto; J. Jachnik; R. Miniero
The natural history of hemochromatosis type 2.
2001-01-01 De Gobbi M; Roetto A; Piperno A; Papanikolau G; Loukopoulos D; Lockitch G; Girelli P; Gasparini P; Cox T; Cazzola M; Camaschella C
Comparison of clinical expression of type 2 (juvenile) and type 3 hemochromatosis. RID B-1183-2008
2002-01-01 M. De Gobbi;A. Roetto;F. Daraio;F. Alberti;A. Piga;D. Girelli;C. Camaschella
Molecular defects in two genetic disorders of iron recycling: aceruloplasminemia and hemochromatosis type 4
2002-01-01 M De Gobbi; A Roetto; S Bsio; F Daraio; F Alberti; M Rizzetto; U Bonuccelli; F Longo; C Camaschella
Natural history of juvenile haemochromatosis.
2002-01-01 M. De Gobbi;A. Roetto;A. Piperno;R. Mariani;F. Alberti;G. Papanikolaou;M. Politou;G. Lockitch;D. Girelli;S. Fargion;T. M. Cox;P. Gasparini;M. Cazzola;C. Camaschella
Clinical haemochromatosis in HFE mutation carriers
2002-01-01 Cox, T and Rochette; and Camaschella, J; and Walker, C; and Robson, A and The other members of the European Haemochromatosis Consortium are D Halsall, D Capron, E Cadet, M-P Roth, H Coppin, N Borot, M De Gobbi, M Wormwood, W M Rosenberg, C Patch, V David, J-Y Le Gall, P Gasparini, J Crowe, G Sebastiani, A-M Little, J Dooley, A T Merryweather-Clarke, J Pointon, and K Livesey
Juvenile hemochromatosis.
2002-01-01 C. Camaschella;A. Roetto;M. De Gobbi
Onset of cataract in early infancy associated with a 32G-->C transition in the iron responsive element of L-ferritin.
2002-01-01 M. F. Campagnoli;R. Pimazzoni;S. Bosio;G. Zecchina;M. De Gobbi;P. Bosso;B. Oldani;U. Ramenghi
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Screening of the C282Y mutation in the HFE gene in Italy by Taqman technology. | 1999 | G. Restagno;A. M. Gomez;L. Sbaiz;S. Bosso;C. Negro;P. Fortina;P. Gasparini;M. Cicilano;M. De Gobbi;C. Camaschella | |
Diagnosis and management of haemochromatosis since the discovery of the HFE gene: a european experience | 2000 | The European and UK Haemochromatosis Consortia; represented by: Robson K.J.H.; Merryweather-Clarke A.T.; Pointon J.J.; Shearman J.D.; Halsall D.J.; Kelly A.; Cox T.M.; Rosenberg W.M.; Howell M.; Eccles D.; Patch C.; Fowler A.V.; Wallace D.F.; Camaschella C.; Roetto A.; Zecchina G.; De Gobbi M.; Gasparini P.; Cadet E.; Vandwalle J.L.; Capron D.; Rochette J.; Borot N.; Demangel C.; Dery R.; Vinel J.P.; Pascal J.P.;Coppin H.; Roth M.P | |
A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan technology. | 2000 | Restagno G; Gomez AM; Sbaiz L; De Gobbi M; Roetto A; Bertino E; Fabris C; Fiorucci GC; Fortina P; Camaschella C. | |
Hereditary hemochromatosis: progress and perspectives | 2000 | Clara Camaschella; Marco De Gobbi; Antonella Roetto | |
Non-HFE hemochromatosis: insights into regulation on iron metabolisms from novel iron loading disorders. | 2000 | Camaschella C.; Roetto A.; De Gobbi M.; Calì A.; Totaro A.; Gasparini P | |
Molecular and clinical studies in hemochromatosis type 2 and 3 | 2000 | De Gobbi M; Roetto A; Calì A; Daraio F; Barilaro MR; Totaro A; Gasparini P; Cazzola M; Camaschella C | |
Mutations in transferrin receptor-2 in hemochromatosis type 3. | 2000 | A. Roetto;C. Camaschella;A. Cali;M. De Gobbi;M. Carella;N. Majorano;A. Totaro;P. Gasparini | |
Juvenile hemochromatosis associated with B-thalassemia treated by phlebotomy and recombinant human erythropoietin. | 2000 | DE GOBBI M; PASQUERO P; BRUNELLO F; PACCOTTI P; MAZZA U; CAMASCHELLA C. | |
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. | 2000 | C. Camaschella;A. Roetto;A. Calì;M. De Gobbi;G. Garozzo;M. Carella;N. Majorano;A. Totaro;P. Gasparini | |
TFR2 Y250X mutation in Italy. | 2001 | M. De Gobbi;M. R. Barilaro;G. Garozzo;L. Sbaiz;F. Alberti;C. Camaschella | |
Hereditary Hemochromatosis | 2001 | Camaschella C; De Gobbi M; Roetto A | |
New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. | 2001 | ROETTO A.; TOTARO A.; PIPERNO A.; PIGA A.; LONGO F.; GAROZZO G.; CALI A.; DE GOBBI M.; GASPARINI P.; CAMASCHELLA C. | |
HETEROZYGOUS β-THALASSEMIA AND HOMOZYGOUS H63D HEMOCHROMATOSIS IN A CHILD: A 16-YEAR FOLLOW-UP | 2001 | I. Tardivo; M. De Gobbi; A. Roetto; J. Jachnik; R. Miniero | |
The natural history of hemochromatosis type 2. | 2001 | De Gobbi M; Roetto A; Piperno A; Papanikolau G; Loukopoulos D; Lockitch G; Girelli P; Gasparini P; Cox T; Cazzola M; Camaschella C | |
Comparison of clinical expression of type 2 (juvenile) and type 3 hemochromatosis. RID B-1183-2008 | 2002 | M. De Gobbi;A. Roetto;F. Daraio;F. Alberti;A. Piga;D. Girelli;C. Camaschella | |
Molecular defects in two genetic disorders of iron recycling: aceruloplasminemia and hemochromatosis type 4 | 2002 | M De Gobbi; A Roetto; S Bsio; F Daraio; F Alberti; M Rizzetto; U Bonuccelli; F Longo; C Camaschella | |
Natural history of juvenile haemochromatosis. | 2002 | M. De Gobbi;A. Roetto;A. Piperno;R. Mariani;F. Alberti;G. Papanikolaou;M. Politou;G. Lockitch;D. Girelli;S. Fargion;T. M. Cox;P. Gasparini;M. Cazzola;C. Camaschella | |
Clinical haemochromatosis in HFE mutation carriers | 2002 | Cox, T and Rochette; and Camaschella, J; and Walker, C; and Robson, A and The other members of the European Haemochromatosis Consortium are D Halsall, D Capron, E Cadet, M-P Roth, H Coppin, N Borot, M De Gobbi, M Wormwood, W M Rosenberg, C Patch, V David, J-Y Le Gall, P Gasparini, J Crowe, G Sebastiani, A-M Little, J Dooley, A T Merryweather-Clarke, J Pointon, and K Livesey | |
Juvenile hemochromatosis. | 2002 | C. Camaschella;A. Roetto;M. De Gobbi | |
Onset of cataract in early infancy associated with a 32G-->C transition in the iron responsive element of L-ferritin. | 2002 | M. F. Campagnoli;R. Pimazzoni;S. Bosio;G. Zecchina;M. De Gobbi;P. Bosso;B. Oldani;U. Ramenghi |
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