Literature DB >> 22875618

β Thalassemia major due to acquired uniparental disomy in a previously healthy adolescent.

Celeste Bento1, Tabita M Maia, Jelena D Milosevic, Isabel M Carreira, Robert Kralovics, M Leticia Ribeiro.   

Abstract

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Year:  2012        PMID： 22875618      PMCID： PMC3533667          DOI： 10.3324/haematol.2012.064097

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


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  11 in total

Review 1.  Pathogenesis and consequences of uniparental disomy in cancer.

Authors:  Hideki Makishima; Jaroslaw P Maciejewski
Journal:  Clin Cancer Res       Date:  2011-04-25       Impact factor: 12.531

2.  Uniparental disomy: a novel mechanism for thalassemia major.

Authors:  C Beldjord; I Henry; C Bennani; D Vanhaeke; D Labie
Journal:  Blood       Date:  1992-07-01       Impact factor: 22.113

3.  DNA profiling in blood, buccal swabs and hair follicles of patients after allogeneic peripheral blood stem cells transplantation.

Authors:  Yi Zhou; Siyue Li; Juan Zhou; Lanlan Wang; Xingbo Song; Xiaojun Lu; Jun Wang; Yuanxin Ye; BinWu Ying; Yongqian Jia
Journal:  Leg Med (Tokyo)       Date:  2010-10-28       Impact factor: 1.376

4.  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

5.  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

6.  Rare germline variants in regions of loss of heterozygosity may influence clinical course of hematological malignancies.

Authors:  A Harutyunyan; B Gisslinger; T Klampfl; T Berg; K Bagienski; H Gisslinger; R Kralovics
Journal:  Leukemia       Date:  2011-06-17       Impact factor: 11.528

7.  Uniparental paternal disomy in a genetic cancer-predisposing syndrome.

Authors:  I Henry; C Bonaiti-Pellié; V Chehensse; C Beldjord; C Schwartz; G Utermann; C Junien
Journal:  Nature       Date:  1991-06-20       Impact factor: 49.962

8.  Two distinct tumor suppressor loci within chromosome 11p15 implicated in breast cancer progression and metastasis.

Authors:  P Karnik; M Paris; B R Williams; G Casey; J Crowe; P Chen
Journal:  Hum Mol Genet       Date:  1998-05       Impact factor: 6.150

9.  A new genetic concept: uniparental disomy and its potential effect, isodisomy.

Authors:  E Engel
Journal:  Am J Med Genet       Date:  1980

10.  {beta}-thalassemia major evolution from {beta}-thalassemia minor is associated with paternal uniparental isodisomy of chromosome 11p15.

Authors:  Jan-Gowth Chang; Wen-Chan Tsai; Inn-Wen Chong; Chao-Sung Chang; Chyi-Chang Lin; Ta-Chih Liu
Journal:  Haematologica       Date:  2008-04-15       Impact factor: 9.941
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  3 in total

1.  Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus.

Authors:  Hannah Bogardus; Vincent P Schulz; Yelena Maksimova; Barbara A Miller; Peining Li; Bernard G Forget; Patrick G Gallagher
Journal:  Haematologica       Date:  2014-06-03       Impact factor: 9.941

Review 2.  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

Review 3.  The hemoglobinopathies, molecular disease mechanisms and diagnostics.

Authors:  Cornelis L Harteveld; Ahlem Achour; Sandra J G Arkesteijn; Jeanet Ter Huurne; Maaike Verschuren; Sharda Bhagwandien-Bisoen; Rianne Schaap; Linda Vijfhuizen; Hakima El Idrissi; Tamara T Koopmann
Journal:  Int J Lab Hematol       Date:  2022-09       Impact factor: 3.450
  3 in total

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