Literature DB >> 21750083

Two atypical forms of HbH disease in Sardinia.

Maria Elisabetta Paglietti, Maria Carla Sollaino, Daniela Loi, Francesca Sarra, Eleonora Zaccheddu, Renzo Galanello.   

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Year:  2011        PMID： 21750083      PMCID： PMC3208696          DOI： 10.3324/haematol.2011.048900

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  10 in total

Review 1.  The molecular basis of α-thalassemia: a model for understanding human molecular genetics.

Authors:  Douglas R Higgs; Richard J Gibbons
Journal:  Hematol Oncol Clin North Am       Date:  2010-09-29       Impact factor: 3.722

2.  Homozygous deletion of the major alpha-globin regulatory element (MCS-R2) responsible for a severe case of hemoglobin H disease.

Authors:  Maria Carla Sollaino; Maria Elisabetta Paglietti; Daniela Loi; Rita Congiu; Rosanna Podda; Renzo Galanello
Journal:  Blood       Date:  2010-09-23       Impact factor: 22.113

3.  Refinement of the genetic cause of ATR-16.

Authors:  Cornelis L Harteveld; Marjolein Kriek; Emilia K Bijlsma; Zoran Erjavec; Deepak Balak; Marion Phylipsen; Astrid Voskamp; Emmanora di Capua; Stefan J White; Piero C Giordano
Journal:  Hum Genet       Date:  2007-06-28       Impact factor: 4.132

4.  The deletion of SOX8 is not associated with ATR-16 in an HbH family from Brazil.

Authors:  M A C B Bezerra; A S Araujo; M Phylipsen; D Balak; E M Kimura; D M Oliveira; F F Costa; M F Sonati; C L Harteveld
Journal:  Br J Haematol       Date:  2008-05-19       Impact factor: 6.998

5.  A novel telomeric (approximately 285 kb) α-thalassemia deletion leading to a phenotypically unusual HbH disease.

Authors:  Philippe Joly; Philippe Lacan; Audrey Labalme; Elodie Bonhomme; Damien Sanlaville; Alain Francina
Journal:  Haematologica       Date:  2009-11-30       Impact factor: 9.941

6.  A new alpha(0)-thalassemia deletion found in a Dutch family (--(AW)).

Authors:  Marion Phylipsen; Ingrid P Vogelaar; Rianne A C Schaap; Sandra G J Arkesteijn; George L Boxma; Willem C H van Helden; Irene C M Wildschut; Andrea C de Bruin-Roest; Piero C Giordano; Cornelis L Harteveld
Journal:  Blood Cells Mol Dis       Date:  2010-06-01       Impact factor: 3.039

7.  Novel large deletions in the human alpha-globin gene cluster: Clarifying the HS-40 long-range regulatory role in the native chromosome environment.

Authors:  Andreia Coelho; Isabel Picanço; Filomena Seuanes; Maria Teresa Seixas; Paula Faustino
Journal:  Blood Cells Mol Dis       Date:  2010-06-30       Impact factor: 3.039

8.  Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes.

Authors:  R Origa; M C Sollaino; N Giagu; S Barella; S Campus; C Mandas; P Bina; L Perseu; R Galanello
Journal:  Br J Haematol       Date:  2006-11-27       Impact factor: 6.998

9.  Human alpha-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3' of the zeta-globin gene.

Authors:  L Romao; F Cash; I Weiss; S Liebhaber; M Pirastu; R Galanello; A Loi; E Paglietti; P Ioannou; A Cao
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

10.  HbH disease in Sardinia: molecular, hematological and clinical aspects.

Authors:  R Galanello; B Aru; C Dessì; M Addis; E Paglietti; M A Melis; S Cocco; P Massa; N Giagu; S Barella
Journal:  Acta Haematol       Date:  1992       Impact factor: 2.195
  10 in total

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