Literature DB >> 23065522

HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype.

Philippe Joly1, Caroline Schluth-Bolard, Philippe Lacan, Claire Barro, Serge Pissard, Audrey Labalme, Damien Sanlaville, Catherine Badens.   

Abstract

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Year:  2012        PMID： 23065522      PMCID： PMC3533668          DOI： 10.3324/haematol.2012.071167

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


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  7 in total

1.  Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia.

Authors:  S S Chong; C D Boehm; D R Higgs; G R Cutting
Journal:  Blood       Date:  2000-01-01       Impact factor: 22.113

2.  Somatic deletion of the normal beta-globin gene leading to thalassaemia intermedia in heterozygous beta-thalassaemic patients.

Authors:  Renzo Galanello; Lucia Perseu; Chiara Perra; Liliana Maccioni; Susanna Barella; Maurizio Longinotti; Antonio Cao; Mario Cazzola
Journal:  Br J Haematol       Date:  2004-12       Impact factor: 6.998

3.  A novel mechanism for thalassaemia intermedia.

Authors:  C Badens; M G Mattei; A M Imbert; C Lapouméroulie; N Martini; G Michel; D Lena-Russo
Journal:  Lancet       Date:  2002-01-12       Impact factor: 79.321

4.  Rapid and reliable β-globin gene cluster haplotyping of sickle cell disease patients by FRET Light Cycler and HRM assays.

Authors:  Philippe Joly; Philippe Lacan; Caroline Garcia; Angelique Delasaux; Alain Francina
Journal:  Clin Chim Acta       Date:  2011-04-01       Impact factor: 3.786

5.  Sickle cell disease resulting from uniparental disomy in a child who inherited sickle cell trait.

Authors:  Jeffrey J Swensen; Archana M Agarwal; Jose M Esquilin; Sabina Swierczek; Ajay Perumbeti; Dottie Hussey; Margaret Lee; Clinton H Joiner; Genevieve Pont-Kingdon; Elaine Lyon; Josef T Prchal
Journal:  Blood       Date:  2010-07-01       Impact factor: 22.113

6.  Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification.

Authors:  C L Harteveld; A Voskamp; M Phylipsen; N Akkermans; J T den Dunnen; S J White; P C Giordano
Journal:  J Med Genet       Date:  2005-05-13       Impact factor: 6.318

7.  Heterogeneity of the epsilon gamma delta beta-thalassaemias: characterization of three novel English deletions.

Authors:  Helen Rooks; Jean Bergounioux; Laurence Game; James Paul Close; Cameron Osborne; Steve Best; Tania Senior; Susan Height; Richard Thompson; Nedim Hadzic; Peter Fraser; Paula Bolton-Maggs; Swee Lay Thein
Journal:  Br J Haematol       Date:  2005-03       Impact factor: 6.998
  7 in total
  1 in total

1.  Unusual low sickle cell hemoglobin level.

Authors:  Faouzi Baklouti; Jean Delaunay
Journal:  Haematologica       Date:  2013-06       Impact factor: 9.941
  1 in total

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