The DOI matches its Crossref record; 35 of the 35 references it cites were found in a registry or an index.
Disease gene mapping in isolated human populations: the example of Finland.
Open accessAbstract
The recent surge of interest in isolated human populations can be attributed largely to the advances in molecular genetics that now ap- pear to produce an endless array of new data.However, the organised study of inherited traits and disorders in isolated populations started several decades ago.For example, at the beginning of the second half of this century several enthusiastic investigators at the De- partment of Paediatrics, University of Helsinki began to document rare diseases in Finns that either had not been previously described or were very rare elsewhere.The 'flagship' dis- ease was congenital nephrosis described by Hallman et all and established as an autosomal recessive disorder by Norio.2These were the heydays of biochemical genetics.Rapidly, as many as a dozen rare disorders, many of which were 'metabolic', were found with a high fre- quency in Finns.A landmark paper by Norio et aP carrying the title Hereditary diseases in Finland; rare flora in rare soil was published in 1973; it described 10 'Finnish' disorders.Another landmark paper had appeared a year earlier describing extensive blood group and serum marker studies in conjunction with genealogical features of the Finnish popula- tion.4Further studies by Nevanlinna and his group have characterised the Finnish gene pool and offered interpretations regarding the Finnish population history and structure.5 8The following is a brief review of 'Finnish' disease genes and the lessons that have been gained so far from their molecular study.
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Cites
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Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland
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Cited by
Kestilä, M., Lenkkeri, U., Männikkö, M., Lamerdin, J., McCready, P., Putaala, H., Ruotsalainen, V., Morita, T., Nissinen, M., Herva, R., et al. (1998) · Molecular Cell · doi:10.1016/s1097-2765(00)80057-x · Cited by 1,866
Aittomäki, K., Dieguez Lucena, J., Pakarinen, P., Sistonen, P., Tapanainen, J., Gromoll, J., Kaskikari, R., Sankila, E.-M., Lehväslaiho, H., Reyes Engel, A., et al. (1995) · Cell · doi:10.1016/0092-8674(95)90275-9 · Cited by 982
Self-citationLi, Y., Willer, C., Sanna, S., & Abecasis, G. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164242 · Cited by 990
Genetic susceptibility to non-polyposis colorectal cancer
Lynch, H. T., & de la Chapelle, A. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.11.801 · Cited by 814
Self-citationHästbacka, J., de la Chapelle, A., Mahtani, M. M., Clines, G., Reeve-Daly, M. P., Daly, M., Hamilton, B. A., Kusumi, K., Trivedi, B., Weaver, A., et al. (1994) · Cell · doi:10.1016/0092-8674(94)90281-x · Cited by 744
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Metadata
- Authors
- de la Chapelle, A.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 1993-10
- Volume
- 30
- Issue
- 10
- Pages
- 857-865
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2098311021
- Cited by
- 356
- References
- 35
- FWCI
- 11.93
- Type
- journal article
- Language
- en
- Open access
- bronze
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