Clinical utility gene card for: familial erythrocytosis.
作者信息
Hussein Kais, Percy Melanie, McMullin Mary Frances
机构信息
Institute of Pathology, Hannover Medical School, Hannover, Germany.
出版信息
Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.252. Epub 2012 Jan 25.
Abstract
摘要
相似文献
1
Clinical utility gene card for: familial erythrocytosis.家族性红细胞增多症临床应用基因卡
Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.252. Epub 2012 Jan 25.
2
The complete evaluation of erythrocytosis: congenital and acquired.红细胞增多症的全面评估：先天性和后天性
Leukemia. 2009 May;23(5):834-44. doi: 10.1038/leu.2009.54. Epub 2009 Mar 19.
3
Primary familial congenital erythrocytosis: two novel EPOR mutations found in Spain.
Int J Lab Hematol. 2013 Oct;35(5):e27-8. doi: 10.1111/ijlh.12061. Epub 2013 Mar 22.
4
Genetic basis of unexplained erythrocytosis in Indian patients.印度患者不明原因红细胞增多症的遗传学基础。
Eur J Haematol. 2019 Aug;103(2):124-130. doi: 10.1111/ejh.13267. Epub 2019 Jun 13.
5
NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients.NGS 评估伯尔尼队列不明原因红细胞增多症患者。
Genes (Basel). 2021 Dec 4;12(12):1951. doi: 10.3390/genes12121951.
6
Advances in understanding the pathogenesis of primary familial and congenital polycythaemia.原发性家族性和先天性红细胞增多症发病机制研究进展。
Br J Haematol. 2010 Mar;148(6):844-52. doi: 10.1111/j.1365-2141.2009.08069.x. Epub 2010 Jan 20.
7
The role of serum erythropoietin levels in diagnosis and classification of erythrocytosis/polycythemia.血清促红细胞生成素水平在红细胞增多症/真性红细胞增多症诊断和分类中的作用。
Haematologica. 2005 Nov;90 Suppl:ELT04; author reply ELT05.
8
Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).对 70 名无血缘关系的先天性红细胞增多症患者进行的分子研究显示，不到一半的病例存在潜在的致病突变（缺失的基因在哪里？）。
Eur J Haematol. 2013 Oct;91(4):361-8. doi: 10.1111/ejh.12170. Epub 2013 Aug 20.
9
Genetic variability of hypoxia-inducible factor alpha (HIFA) genes in familial erythrocytosis: Analysis of the literature and genome databases.家族性红细胞增多症中低氧诱导因子α（HIFA）基因的遗传变异性：文献和基因组数据库分析。
Eur J Haematol. 2019 Oct;103(4):287-299. doi: 10.1111/ejh.13304. Epub 2019 Aug 23.
10
Algorithmic evaluation of hereditary erythrocytosis: Pathways and caveats.遗传性红细胞增多症的算法评估：途径和注意事项。
Int J Lab Hematol. 2019 May;41 Suppl 1:89-94. doi: 10.1111/ijlh.13019.
引用本文的文献
1
The Participation of the Intrinsically Disordered Regions of the bHLH-PAS Transcription Factors in Disease Development.bHLH-PAS 转录因子无规则区在疾病发展中的作用。
Int J Mol Sci. 2021 Mar 11;22(6):2868. doi: 10.3390/ijms22062868.
2
Erythrocytosis: genes and pathways involved in disease development.红细胞增多症：疾病发展相关的基因和途径。
Blood Transfus. 2021 Nov;19(6):518-532. doi: 10.2450/2020.0197-20. Epub 2020 Dec 16.
3
Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis.家族性红细胞增多症中促红细胞生成素（EPO）和 EPO 受体基因的遗传变异。
Int J Lab Hematol. 2019 Apr;41(2):162-167. doi: 10.1111/ijlh.12949. Epub 2018 Dec 3.
4
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.基因 panel 测序改善了特发性红细胞增多症患者的诊断检查，并鉴定出了新的突变。
Haematologica. 2016 Nov;101(11):1306-1318. doi: 10.3324/haematol.2016.144063. Epub 2016 Sep 20.
5
Investigation of genetic disturbances in oxygen sensing and erythropoietin signaling pathways in cases of idiopathic erythrocytosis.特发性红细胞增多症患者氧感应和促红细胞生成素信号通路基因紊乱的研究
Genet Res Int. 2013;2013:495724. doi: 10.1155/2013/495724. Epub 2013 Dec 2.
6
Clinical utility gene card for: von Hippel-Lindau (VHL).希佩尔-林道（VHL）综合征临床实用基因卡片
Eur J Hum Genet. 2014 Apr;22(4). doi: 10.1038/ejhg.2013.180. Epub 2013 Aug 28.
7
Clinical utility gene card for: familial polycythaemia vera.家族性真性红细胞增多症临床实用基因卡片
Eur J Hum Genet. 2013 Jun;21(6). doi: 10.1038/ejhg.2012.216. Epub 2012 Oct 3.
本文引用的文献
1
Idiopathic erythrocytosis: a disappearing entity.特发性红细胞增多症：一种正在消失的实体。
Hematology Am Soc Hematol Educ Program. 2009:629-35. doi: 10.1182/asheducation-2009.1.629.
2
Erythrocytosis associated with a novel missense mutation in the HIF2A gene.与 HIF2A 基因中新型错义突变相关的红细胞增多症。
Haematologica. 2010 May;95(5):829-32. doi: 10.3324/haematol.2009.017582. Epub 2009 Dec 8.
3
Identification of high oxygen affinity hemoglobin variants in the investigation of patients with erythrocytosis.红细胞增多症患者调查中高氧亲和力血红蛋白变异体的鉴定
Haematologica. 2009 Sep;94(9):1321-2. doi: 10.3324/haematol.2009.008037.
4
Clinical and hematological presentation of children and adolescents with polycythemia vera.真性红细胞增多症患儿及青少年的临床和血液学表现
Ann Hematol. 2009 Aug;88(8):713-9. doi: 10.1007/s00277-009-0758-y. Epub 2009 May 26.
5
A new alpha-globin variant with increased oxygen affinity in a Swiss family: Hb Frauenfeld [alpha 138(H21)Ser-->Phe, TCC>TTC (alpha 2)].瑞士一个家族中发现一种具有增高氧亲和力的新型α-珠蛋白变异体：弗劳恩费尔德血红蛋白[α138(H21)丝氨酸→苯丙氨酸，TCC>TTC(α2)]
Hemoglobin. 2009;33(1):54-8. doi: 10.1080/03630260802625733.
6
Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis.
Am J Hematol. 2009 Jan;84(1):46-54. doi: 10.1002/ajh.21313.
7
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.家族性红细胞增多症中HIF2A基因的功能获得性突变。
N Engl J Med. 2008 Jan 10;358(2):162-8. doi: 10.1056/NEJMoa073123.
8
The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels.血清促红细胞生成素水平低的特发性红细胞增多症患者中JAK2外显子12突变的频率。
Haematologica. 2007 Dec;92(12):1607-14. doi: 10.3324/haematol.11643.
9
Familial polycythemia vera with non-germline JAK2(V617F) mutation sparing the abnormal and clonal granulopoiesis.伴有非种系JAK2（V617F）突变的家族性真性红细胞增多症，该突变不累及异常克隆性粒细胞生成。
Leukemia. 2007 Dec;21(12):2566-8. doi: 10.1038/sj.leu.2404846. Epub 2007 Jul 12.
10
Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis.家族性和散发性先天性原发性红细胞增多症的分子遗传学分析
Haematologica. 2007 May;92(5):674-7. doi: 10.3324/haematol.10787.
Zotero 插件