Disease gene mapping in isolated human populations: the example of Finland.
作者信息
de la Chapelle A
机构信息
Department of Medical Genetics, University of Helsinki, Finland.
出版信息
J Med Genet. 1993 Oct;30(10):857-65. doi: 10.1136/jmg.30.10.857.
Abstract
摘要
相似文献
1
Disease gene mapping in isolated human populations: the example of Finland.孤立人群中的疾病基因定位：以芬兰为例。
J Med Genet. 1993 Oct;30(10):857-65. doi: 10.1136/jmg.30.10.857.
2
Human population genetics: lessons from Finland.人类群体遗传学：来自芬兰的经验教训。
Annu Rev Genomics Hum Genet. 2001;2:103-28. doi: 10.1146/annurev.genom.2.1.103.
3
4
[Prevalence of hereditary pathologies in residents of the Kirov Province].[基洛夫州居民遗传性疾病的患病率]
Genetika. 1992 Apr;28(4):186-91.
5
[Linkage and linkage disequilibrium in the Finnish disease heritage].
Duodecim. 1994;110(7):654-64.
6
7
8
9
Monogenic disorders.单基因疾病
J Med Genet. 1977 Oct;14(5):316-20. doi: 10.1136/jmg.14.5.316.
引用本文的文献
1
From target discovery to clinical drug development with human genetics.从靶点发现到基于人类遗传学的临床药物研发。
Nature. 2023 Aug;620(7975):737-745. doi: 10.1038/s41586-023-06388-8. Epub 2023 Aug 23.
2
A pedigree-based cohort to study the genetic risk factors for cardiometabolic diseases: study design, baseline characteristics and preliminary results.基于家系的队列研究心血管代谢疾病的遗传风险因素：研究设计、基线特征和初步结果。
Front Public Health. 2023 Jul 13;11:1189993. doi: 10.3389/fpubh.2023.1189993. eCollection 2023.
3
Alu element in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder.发现 X 连锁 RNA 结合基序蛋白 2 （RBMX2）基因中的 Alu 元件与双相情感障碍有关。
PLoS One. 2021 Dec 16;16(12):e0261170. doi: 10.1371/journal.pone.0261170. eCollection 2021.
4
Genetics in an isolated population like Finland: a different basis for genomic medicine?芬兰等孤立人群中的遗传学：基因组医学的不同基础？
J Community Genet. 2017 Oct;8(4):319-326. doi: 10.1007/s12687-017-0318-4. Epub 2017 Jul 20.
5
Accurate Non-parametric Estimation of Recent Effective Population Size from Segments of Identity by Descent.基于同源片段对近期有效种群大小进行准确的非参数估计。
Am J Hum Genet. 2015 Sep 3;97(3):404-18. doi: 10.1016/j.ajhg.2015.07.012. Epub 2015 Aug 20.
6
Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland.根据经验遗传数据模拟芬兰人口历史，以评估芬兰稀有变异检验的功效。
Am J Hum Genet. 2014 May 1;94(5):710-20. doi: 10.1016/j.ajhg.2014.03.019. Epub 2014 Apr 24.
7
From rumors to genetic isolates.从谣言到遗传隔离
Genet Mol Biol. 2014 Mar;37(1 Suppl):186-93. doi: 10.1590/s1415-47572014000200005.
8
Genetics and genomic medicine around the world.世界各地的遗传学与基因组医学。
Mol Genet Genomic Med. 2014 Jan;2(1):1-2. doi: 10.1002/mgg3.59. Epub 2014 Jan 10.
9
The application of next-generation sequencing in the autozygosity mapping of human recessive diseases.下一代测序技术在人类隐性疾病的同源性定位中的应用。
Hum Genet. 2013 Nov;132(11):1197-211. doi: 10.1007/s00439-013-1344-x. Epub 2013 Aug 2.
10
Exome sequencing and complex disease: practical aspects of rare variant association studies.外显子组测序与复杂疾病：罕见变异关联研究的实用方面。
Hum Mol Genet. 2012 Oct 15;21(R1):R1-9. doi: 10.1093/hmg/dds387. Epub 2012 Sep 13.
本文引用的文献
1
Mutations of Bacteria from Virus Sensitivity to Virus Resistance.细菌从对病毒敏感到对病毒抗性的突变。
Genetics. 1943 Nov;28(6):491-511. doi: 10.1093/genetics/28.6.491.
2
Nephrotic syndrome in newborn and young infants.新生儿及小婴儿肾病综合征
Ann Paediatr Fenn. 1956;2(3):227-41.
3
Genetic relationships of European populations reflect their ethnohistorical affinities.欧洲人群的遗传关系反映了他们的民族历史亲缘关系。
Am J Phys Anthropol. 1993 May;91(1):55-70. doi: 10.1002/ajpa.1330910104.
4
Identification of mutations in Danish choroideremia families.
Hum Mutat. 1993;2(1):43-7. doi: 10.1002/humu.1380020108.
5
Genetic markers in Finland.
Haematologia (Budap). 1980;13(1-4):65-74.
6
The incidence of Pku in Finland.
Acta Paediatr Scand. 1971 Nov;60(6):666-8. doi: 10.1111/j.1651-2227.1971.tb07007.x.
7
The Finnish population structure. A genetic and genealogical study.芬兰人口结构：一项遗传学与谱系学研究
Hereditas. 1972;71(2):195-236. doi: 10.1111/j.1601-5223.1972.tb01021.x.
8
Hereditary diseases in Finland; rare flora in rare soul.
Ann Clin Res. 1973 Jun;5(3):109-41.
9
Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy.伴有角膜格子状营养不良和颅神经病变的家族性淀粉样变性的遗传学方面
Clin Genet. 1973;4(3):173-185. doi: 10.1111/j.1399-0004.1973.tb01140.x.
Zotero 插件