Sfoglia per Autore
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
Juvenile hemochromatosis.
2002-01-01 C. Camaschella;A. Roetto;M. De Gobbi
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
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
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
Hemochromatosis due to mutations in transferrin receptor 2.
2002-01-01 A. Roetto;F. Daraio;F. Alberti;P. Porporato;A. Calì;M. De Gobbi;C. Camaschella
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
Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations.
2002-01-01 S. Bosio;M. De Gobbi;A. Roetto;G. Zecchina;E. Leonardo;M. Rizzetto;C. Lucetti;L. Petrozzi;U. Bonuccelli;C. Camaschella
Difetti Ereditari del Metabolismo del Ferro
2003-01-01 Camaschella C; de Gobbi M; Roetto A
Diagnosis of juvenile hemochromatosis in an 11-year-old child combining genetic analysis and non-invasive liver iron quantitation
2003-01-01 DE GOBBI M;CARUSO R;DARAIO F;CHIANALE F;PINTO RM;LONGO F;PIGA A;CAMASCHELLA C
Rare Genetic Anemias Due to Defective Iron Recycling: Aceruloplasminemia and Type 4 Hemochromatosis
2003-01-01 C. Camaschella; S. Bosio; M. De Gobbi; G. Zecchina; F. Daraio; P. Porporato; F. Longo; A. Piga; A. Roetto
Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload.
2003-01-01 M. De Gobbi;F. Daraio;C. Oberkanins;A. Moritz;F. Kury;G. Fiorelli;C. Camaschella
Screening selected blood donors with biochemical iron overload for hemochromatosis: a regional experience.
2004-01-01 M. De Gobbi;S. D'Antico;F. Castagno;D. Testa;R. Merlini;A. Bondi;C. Camaschella
Difetti ereditari del metablismo del ferro
2004-01-01 Camaschella C; De Gobbi M; Roetto A
Annotation of cis-regulatory elements by identification, subclassification, and functional assessment of multispecies conserved sequences.
2005-01-01 J. R. Hughes;J. Cheng;N. Ventress;S. Prabhakar;K. Clark;E. Anguita;M. De Gobbi;P. d. Jong;E. Rubin;D. R. Higgs
Comparison of the structure and function of the alpha globin cluster throughout evolution.
2005-01-01 J Hughes; JF Cheng; S Prabhakar; N Ventress; J Sharpe; J Sloane-Stanley; H Walace; M De Gobbi; E Anguita; AJH Smith; WG Wood; DR Higgs
Differences in the patterns of transcription factor binding in the human and mouse alpha globin clusters point to potential differences in their regulation
2005-01-01 M De Gobbi; E; Anguita; J Hughes; D Garrick; J Sharpe; J Sloane-Stanley; WG Wood and DR Higgs
Is the role for CTCF binding sites in regulating the structure or function of the alpha globin gene cluster?
2005-01-01 E Anguita; M De Gobbi; J Hughes; J Sharpe; J Sloane-Stanley; DR Higgs and WG Wood
Identification of a gain-of-function SNP causing a new model of alpha-thalassaemia.
2005-01-01 M. De Gobbi;V. Viprakasit;P. J. de;Y. Yoshinaga;J. F. Cheng;J. R. Hughes;C. A. Fisher;W. G. Wood;D. K. Bowden;D. R. Higgs
An entirely novel form of a thalassemia in patients from the south pacific linked to chromosome 16
2005-01-01 V. Viprakasit;M. De Gobbi;H. Ayyub;L. Ragoussis;W. G. Wood;D. K. Bowden;D. R. Higgs
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | |
| Juvenile hemochromatosis. | 2002 | C. Camaschella;A. Roetto;M. De Gobbi | |
| 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 | |
| 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 | |
| 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 | |
| Hemochromatosis due to mutations in transferrin receptor 2. | 2002 | A. Roetto;F. Daraio;F. Alberti;P. Porporato;A. Calì;M. De Gobbi;C. Camaschella | |
| 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 | |
| Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations. | 2002 | S. Bosio;M. De Gobbi;A. Roetto;G. Zecchina;E. Leonardo;M. Rizzetto;C. Lucetti;L. Petrozzi;U. Bonuccelli;C. Camaschella | |
| Difetti Ereditari del Metabolismo del Ferro | 2003 | Camaschella C; de Gobbi M; Roetto A | |
| Diagnosis of juvenile hemochromatosis in an 11-year-old child combining genetic analysis and non-invasive liver iron quantitation | 2003 | DE GOBBI M;CARUSO R;DARAIO F;CHIANALE F;PINTO RM;LONGO F;PIGA A;CAMASCHELLA C | |
| Rare Genetic Anemias Due to Defective Iron Recycling: Aceruloplasminemia and Type 4 Hemochromatosis | 2003 | C. Camaschella; S. Bosio; M. De Gobbi; G. Zecchina; F. Daraio; P. Porporato; F. Longo; A. Piga; A. Roetto | |
| Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload. | 2003 | M. De Gobbi;F. Daraio;C. Oberkanins;A. Moritz;F. Kury;G. Fiorelli;C. Camaschella | |
| Screening selected blood donors with biochemical iron overload for hemochromatosis: a regional experience. | 2004 | M. De Gobbi;S. D'Antico;F. Castagno;D. Testa;R. Merlini;A. Bondi;C. Camaschella | |
| Difetti ereditari del metablismo del ferro | 2004 | Camaschella C; De Gobbi M; Roetto A | |
| Annotation of cis-regulatory elements by identification, subclassification, and functional assessment of multispecies conserved sequences. | 2005 | J. R. Hughes;J. Cheng;N. Ventress;S. Prabhakar;K. Clark;E. Anguita;M. De Gobbi;P. d. Jong;E. Rubin;D. R. Higgs | |
| Comparison of the structure and function of the alpha globin cluster throughout evolution. | 2005 | J Hughes; JF Cheng; S Prabhakar; N Ventress; J Sharpe; J Sloane-Stanley; H Walace; M De Gobbi; E Anguita; AJH Smith; WG Wood; DR Higgs | |
| Differences in the patterns of transcription factor binding in the human and mouse alpha globin clusters point to potential differences in their regulation | 2005 | M De Gobbi; E; Anguita; J Hughes; D Garrick; J Sharpe; J Sloane-Stanley; WG Wood and DR Higgs | |
| Is the role for CTCF binding sites in regulating the structure or function of the alpha globin gene cluster? | 2005 | E Anguita; M De Gobbi; J Hughes; J Sharpe; J Sloane-Stanley; DR Higgs and WG Wood | |
| Identification of a gain-of-function SNP causing a new model of alpha-thalassaemia. | 2005 | M. De Gobbi;V. Viprakasit;P. J. de;Y. Yoshinaga;J. F. Cheng;J. R. Hughes;C. A. Fisher;W. G. Wood;D. K. Bowden;D. R. Higgs | |
| An entirely novel form of a thalassemia in patients from the south pacific linked to chromosome 16 | 2005 | V. Viprakasit;M. De Gobbi;H. Ayyub;L. Ragoussis;W. G. Wood;D. K. Bowden;D. R. Higgs |
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