β Thalassemia major due to acquired uniparental disomy in a previously healthy adolescent.
作者信息
Bento Celeste, Maia Tabita M, Milosevic Jelena D, Carreira Isabel M, Kralovics Robert, Ribeiro M Leticia
机构信息
Serviço de Hematologia, CHC. Centro Hospitalar e Universitário de Coimbra, Portugal. .
出版信息
Haematologica. 2013 Jan;98(1):e4-6. doi: 10.3324/haematol.2012.064097. Epub 2012 Aug 8.
Abstract
摘要
相似文献
1
β Thalassemia major due to acquired uniparental disomy in a previously healthy adolescent.
Haematologica. 2013 Jan;98(1):e4-6. doi: 10.3324/haematol.2012.064097. Epub 2012 Aug 8.
2
{beta}-thalassemia major evolution from {beta}-thalassemia minor is associated with paternal uniparental isodisomy of chromosome 11p15.
Haematologica. 2008 Jun;93(6):913-6. doi: 10.3324/haematol.12195. Epub 2008 Apr 15.
3
Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia major.
Haematologica. 2013 May;98(5):691-5. doi: 10.3324/haematol.2012.065219. Epub 2012 Sep 14.
4
Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency.
Clin Genet. 2011 Aug;80(2):199-201. doi: 10.1111/j.1399-0004.2011.01626.x.
5
Acquired uniparental disomy in myeloproliferative neoplasms.
Hematol Oncol Clin North Am. 2012 Oct;26(5):981-91. doi: 10.1016/j.hoc.2012.07.002. Epub 2012 Aug 18.
6
Prenatal diagnosis of paternal uniparental disomy for chromosome 14 using a single-nucleotide-polymorphism-based microarray analysis: A case report.
J Formos Med Assoc. 2019 Mar;118(3):739-742. doi: 10.1016/j.jfma.2018.12.010. Epub 2019 Jan 5.
7
A Fetus with Hb Bart's Disease Due to Maternal Uniparental Disomy for Chromosome 16.
Hemoglobin. 2016;40(1):66-9. doi: 10.3109/03630269.2015.1096283. Epub 2015 Nov 16.
8
Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy.
Clin Genet. 2015 Apr;87(4):395-7. doi: 10.1111/cge.12455. Epub 2014 Sep 8.
9
Paternal uniparental disomy of chromosome 14.
J Perinatol. 2014 Sep;34(9):723-5. doi: 10.1038/jp.2014.24.
10
Hypophosphatasia due to uniparental disomy.
Bone. 2015 Dec;81:765-766. doi: 10.1016/j.bone.2015.04.041. Epub 2015 May 1.
引用本文的文献
1
The hemoglobinopathies, molecular disease mechanisms and diagnostics.
Int J Lab Hematol. 2022 Sep;44 Suppl 1(Suppl 1):28-36. doi: 10.1111/ijlh.13885.
2
Molecular basis of β thalassemia and potential therapeutic targets.
Blood Cells Mol Dis. 2018 May;70:54-65. doi: 10.1016/j.bcmd.2017.06.001. Epub 2017 Jun 20.
3
Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus.
Haematologica. 2014 Sep;99(9):e168-70. doi: 10.3324/haematol.2014.110312. Epub 2014 Jun 3.
本文引用的文献
1
Rare germline variants in regions of loss of heterozygosity may influence clinical course of hematological malignancies.
Leukemia. 2011 Nov;25(11):1782-4. doi: 10.1038/leu.2011.150. Epub 2011 Jun 17.
2
Pathogenesis and consequences of uniparental disomy in cancer.
Clin Cancer Res. 2011 Jun 15;17(12):3913-23. doi: 10.1158/1078-0432.CCR-10-2900. Epub 2011 Apr 25.
3
DNA profiling in blood, buccal swabs and hair follicles of patients after allogeneic peripheral blood stem cells transplantation.
Leg Med (Tokyo). 2011 Jan;13(1):47-51. doi: 10.1016/j.legalmed.2010.09.005. Epub 2010 Oct 28.
4
{beta}-thalassemia major evolution from {beta}-thalassemia minor is associated with paternal uniparental isodisomy of chromosome 11p15.
Haematologica. 2008 Jun;93(6):913-6. doi: 10.3324/haematol.12195. Epub 2008 Apr 15.
5
A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements.
Eur J Hum Genet. 2006 Nov;14(11):1158-69. doi: 10.1038/sj.ejhg.5201619. Epub 2006 May 17.
6
Somatic deletion of the normal beta-globin gene leading to thalassaemia intermedia in heterozygous beta-thalassaemic patients.
Br J Haematol. 2004 Dec;127(5):604-6. doi: 10.1111/j.1365-2141.2004.05237.x.
7
A novel mechanism for thalassaemia intermedia.
Lancet. 2002 Jan 12;359(9301):132-3. doi: 10.1016/s0140-6736(02)07338-5.
8
Two distinct tumor suppressor loci within chromosome 11p15 implicated in breast cancer progression and metastasis.
Hum Mol Genet. 1998 May;7(5):895-903. doi: 10.1093/hmg/7.5.895.
9
A new genetic concept: uniparental disomy and its potential effect, isodisomy.
Am J Med Genet. 1980;6(2):137-43. doi: 10.1002/ajmg.1320060207.
10
Uniparental paternal disomy in a genetic cancer-predisposing syndrome.
Nature. 1991 Jun 20;351(6328):665-7. doi: 10.1038/351665a0.
Zotero 插件