Literature DB >> 22058279

Beta-thalassemia: from genotype to phenotype.

Fabrice Danjou, Franco Anni, Renzo Galanello.   

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Year:  2011        PMID: 22058279      PMCID: PMC3208672          DOI: 10.3324/haematol.2011.055962

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


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  19 in total

1.  Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2.

Authors:  G J Dover; K D Smith; Y C Chang; S Purvis; A Mays; D A Meyers; C Sheils; G Serjeant
Journal:  Blood       Date:  1992-08-01       Impact factor: 22.113

2.  Quantitative trait locus on chromosome 8q influences the switch from fetal to adult hemoglobin.

Authors:  Chad Garner; Nicholas Silver; Steve Best; Stephan Menzel; Charlotte Martin; Tim D Spector; Swee Lay Thein
Journal:  Blood       Date:  2004-06-17       Impact factor: 22.113

3.  Molecular basis of delta beta-thalassemia with normal fetal hemoglobin level.

Authors:  G Loudianos; A Cao; M S Ristaldi; M Pirastu; M Tzeti; E Kannavakis; C Kattamis
Journal:  Blood       Date:  1990-01-15       Impact factor: 22.113

Review 4.  Genetic modifiers of beta-thalassemia.

Authors:  Swee Lay Thein
Journal:  Haematologica       Date:  2005-05       Impact factor: 9.941

5.  The -158 site 5' to the G gamma gene and G gamma expression.

Authors:  D Labie; O Dunda-Belkhodja; F Rouabhi; J Pagnier; A Ragusa; R L Nagel
Journal:  Blood       Date:  1985-12       Impact factor: 22.113

6.  Variants in genetic modifiers of β-thalassemia can help to predict the major or intermedia type of the disease.

Authors:  Catherine Badens; Philippe Joly; Imane Agouti; Isabelle Thuret; Katia Gonnet; Synda Fattoum; Alain Francina; Marie-Claude Simeoni; Anderson Loundou; Serge Pissard
Journal:  Haematologica       Date:  2011-07-26       Impact factor: 9.941

Review 7.  Genotype-phenotype correlations in beta-thalassemias.

Authors:  A Cao; R Galanello; M C Rosatelli
Journal:  Blood Rev       Date:  1994-03       Impact factor: 8.250

8.  Survival and complications in patients with thalassemia major treated with transfusion and deferoxamine.

Authors:  Caterina Borgna-Pignatti; Simone Rugolotto; Piero De Stefano; Huaqing Zhao; Maria Domenica Cappellini; Giovanni Carlo Del Vecchio; Maria Antonietta Romeo; Gian Luca Forni; Maria Rita Gamberini; Roberta Ghilardi; Antonio Piga; Avital Cnaan
Journal:  Haematologica       Date:  2004-10       Impact factor: 9.941

9.  A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.

Authors:  Stephan Menzel; Chad Garner; Ivo Gut; Fumihiko Matsuda; Masao Yamaguchi; Simon Heath; Mario Foglio; Diana Zelenika; Anne Boland; Helen Rooks; Steve Best; Tim D Spector; Martin Farrall; Mark Lathrop; Swee Lay Thein
Journal:  Nat Genet       Date:  2007-09-02       Impact factor: 38.330

Review 10.  Relationship between genotype and phenotype. Thalassemia intermedia.

Authors:  R Galanello; A Cao
Journal:  Ann N Y Acad Sci       Date:  1998-06-30       Impact factor: 5.691

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  22 in total

1.  Preimplantation diagnosis for β-thalassemia combined with HLA matching: first "savior sibling" is born after embryo selection in Brazil.

Authors:  Rita C S Figueira; Amanda S Setti; Sylvia S Cortezzi; Ciro D Martinhago; Daniela P A F Braga; Assumpto Iaconelli; Edson Borges
Journal:  J Assist Reprod Genet       Date:  2012-09-27       Impact factor: 3.412

2.  Restless legs syndrome/Willis-Ekbom disease prevalence in beta thalassemia patients.

Authors:  Euthimia Dimitriadou; Christoforos D Giannaki; Maria Tsekoura; Ioannis Stefanidis; Georgios M Hadjigeorgiou; Eleftherios Lavdas; Christina Karatzaferi; Giorgos K Sakkas
Journal:  Sleep Breath       Date:  2017-04-19       Impact factor: 2.816

3.  Novel Βeta (β)-Thalassemia Mutation in Turkish Children.

Authors:  Mustafa Ulasli; Serdar Oztuzcu; Sevil Kirkbes; Ali Bay; Yusuf Ziya Igci; Recep Bayraktar; Mehri Igci; Sercan Ergun; Ecir Ali Cakmak; Elif Aytekin; Ahmet Arslan
Journal:  Indian J Hematol Blood Transfus       Date:  2014-04-11       Impact factor: 0.900

Review 4.  Molecular basis of β thalassemia and potential therapeutic targets.

Authors:  Swee Lay Thein
Journal:  Blood Cells Mol Dis       Date:  2017-06-20       Impact factor: 3.039

5.  Exploring the Gap Between Knowledge and Behavior Regarding Thalassemia Among University Students: A Cross-Sectional Study in the United Arab Emirates.

Authors:  Ayat Maher Elsadek; Nageeb Hassan; Moyad Shahwan; Ammar Abdulrahman Jairoun
Journal:  J Community Health       Date:  2022-01-25

6.  Evaluation of β-Thalassaemia Cases for Common Mutations in Western Rajasthan.

Authors:  Abhishek Purohit; Kuldeep Singh; Anand Raj Kalla; Manju Bohra; Mayank Kumar; Shashikant Saini
Journal:  Indian J Hematol Blood Transfus       Date:  2021-02-22       Impact factor: 0.915

7.  A genetic score for the prediction of beta-thalassemia severity.

Authors:  Fabrice Danjou; Marcella Francavilla; Franco Anni; Stefania Satta; Franca-Rosa Demartis; Lucia Perseu; Matteo Manca; Maria Carla Sollaino; Laura Manunza; Elisabetta Mereu; Giuseppe Marceddu; Serge Pissard; Philippe Joly; Isabelle Thuret; Raffaella Origa; Joseph Borg; Gian Luca Forni; Antonio Piga; Maria Eliana Lai; Catherine Badens; Paolo Moi; Renzo Galanello
Journal:  Haematologica       Date:  2014-12-05       Impact factor: 9.941

Review 8.  Non-transfusion-dependent thalassemias.

Authors:  Khaled M Musallam; Stefano Rivella; Elliott Vichinsky; Eliezer A Rachmilewitz
Journal:  Haematologica       Date:  2013-06       Impact factor: 9.941

Review 9.  β-Thalassemia.

Authors:  Raffaella Origa
Journal:  Genet Med       Date:  2016-11-03       Impact factor: 8.822

Review 10.  α-Globin as a molecular target in the treatment of β-thalassemia.

Authors:  Sachith Mettananda; Richard J Gibbons; Douglas R Higgs
Journal:  Blood       Date:  2015-04-13       Impact factor: 22.113

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