Cited by 275Genetic Associations and EpidemiologyForensic and Genetic ResearchGenetic diversity and population structure

The DOI matches its Crossref record; 199 of the 199 references it cites were found in a registry or an index.

Genetics of population isolates

Arcos‐Burgos, M, Muenke, M·2002·Clinical Genetics

DOI 10.1034/j.1399-0004.2002.610401.x

Open this paper in CoChat — free account

Abstract

Genetic isolates, as shown empirically by the Finnish, Old Order Amish, Hutterites, Sardinian and Jewish communities among others, represent a most important and powerful tool in genetically mapping inherited disorders. The main features associated with that genetic power are the existence of multigenerational pedigrees which are mostly descended from a small number of founders a short number of generations ago, environmental and phenotypic homogeneity, restricted geographical distribution, the presence of exhaustive and detailed records correlating individuals in very well ascertained pedigrees, and inbreeding as a norm. On the other hand, the presence of a multifounder effect or admixture among divergent populations in the founder time (e.g. the Finnish and the Paisa community from Colombia) will theoretically result in increased linkage disequilibrium among adjacent loci. The present review evaluates the historical context and features of some genetic isolates with emphasis on the basic population genetic concepts of inbreeding and genetic drift, and also the state‐of‐the‐art in mapping traits, both Mendelian and complex, on genetic isolates.

Integrity signals

Registry

Crossref · 10.1034/j.1399-0004.2002.610401.x

Cites

199 of 199 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

THE GENETICAL STRUCTURE OF POPULATIONS
Wright, S. (1949) · Annals of Eugenics · doi:10.1111/j.1469-1809.1949.tb02451.x · Cited by 6,729
Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome
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
Positional cloning of the APECED gene
Nagamine, K., Peterson, P., Scott, H. S., Kudoh, J., Minoshima, S., Heino, M., Krohn, K. J. E., Lalioti, M. D., Mullis, P. E., Antonarakis, S. E., et al. (1997) · Nature Genetics · doi:10.1038/ng1297-393 · Cited by 1,439
Prospects for whole-genome linkage disequilibrium mapping of common disease genes
Kruglyak, L. (1999) · Nature Genetics · doi:10.1038/9642 · Cited by 1,416
Molecular systematics
Pääbo, S. (1991) · Trends in Genetics · doi:10.1016/0168-9525(91)90328-n · Cited by 1,387
The Genetics of Human Populations
J., A., Cavali-Sforza, L. L., & Bodmer, W. F. (1972) · Population · doi:10.2307/1529365 · Cited by 1,212
Identification of a variant associated with adult-type hypolactasia
Enattah, N. S., Sahi, T., Savilahti, E., Terwilliger, J. D., Peltonen, L., & Järvelä, I. E. (2002) · Nature Genetics · doi:10.1038/ng826 · Cited by 1,029
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure
Aittomäki, K., Dieguez-Lucena, J. L., Pakarinen, P., Sistonen, P., Tapanainen, J. S., Gromoll, J., Kaskikari, R., Sankila, E.-M. K., Lehväslaiho, H., Reyes‐Engel, A., et al. (1995) · Cell · doi:10.1016/0092-8674(95)90275-9 · Cited by 982
The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
Hästbacka, 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
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
Vesa, J., Hellsten, E., Verkruyse, L. A., Camp, L. A., Rapola, J., Santavuori, P., Hofmann, S. L., & Peltonen, L. (1995) · Nature · doi:10.1038/376584a0 · Cited by 736
A Guide to the World’s Languages
Ruhlen, M. (1987) · Stanford University Press eBooks · doi:10.1515/9781503621336 · Cited by 628
VARIANCE OF GENE FREQUENCIES
Cockerham, C. C. (1969) · Evolution · doi:10.1111/j.1558-5646.1969.tb03496.x · Cited by 596
Tissue-Specific Expression of a Splicing Mutation in the Gene Causes Familial Dysautonomia
Slaugenhaupt, S. A., Blumenfeld, A., Gill, S., Leyne, M., Mull, J., Cuajungco, M. P., Liebert, C. B., Chadwick, B. P., Idelson, M., Reznik, L., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/318810 · Cited by 591
Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)
Pennacchio, L. A., Lehesjoki, A., Stone, N., Willour, V. L., Virtaneva, K. I., Miao, J., D’Amato, E., Ramirez, L., Faham, M., Koskiniemi, M., et al. (1996) · Science · doi:10.1126/science.271.5256.1731 · Cited by 535
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
Eisenberg, I., Avidan, N., Potikha, T., Hochner, H., Chen, M., Olender, T., Barash, M., Shemesh, M., Sadeh, M., Grabov-Nardini, G., et al. (2001) · Nature Genetics · doi:10.1038/ng718 · Cited by 523
Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia
Ridanpää, M., van Eenennaam, H., Pelin, K., Chadwick, R. B., Johnson, C. K. H., Yuan, B., vanVenrooij, W. J., Pruijn, G. J. M., Salmela, R., Rockas, S., et al. (2001) · Cell · doi:10.1016/s0092-8674(01)00205-7 · Cited by 511
Localization of a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, PARK6, on Human Chromosome 1p35-p36
Valente, E. M., Bentivoglio, A. R., Dixon, P. H., Ferraris, A., Ialongo, T., Frontali, M., Albanese, A., & Wood, N. W. (2001) · The American Journal of Human Genetics · doi:10.1086/319522 · Cited by 506
An apportionment of human DNA diversity
Barbujani, G., Magagni, A., Minch, E., & Cavalli-Sforza, L. L. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.9.4516 · Cited by 498
Positional cloning of the gene associated with X-linked juvenile retinoschisis
Sauer, C. G., Gehrig, A., Warneke-Wittstock, R., Marquardt, A., Ewing, C. C., Gibson, A., Lorenz, B., Jurklies, B., & Weber, B. H. F. (1997) · Nature Genetics · doi:10.1038/ng1097-164 · Cited by 497
Molecular genetics of the Finnishdisease heritage
Peltonen, L. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.10.1913 · Cited by 488
Use of population isolates for mapping complex traits
Peltonen, L., Palotie, A. V., & Lange, K. L. (2000) · Nature Reviews Genetics · doi:10.1038/35042049 · Cited by 459
β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12
Lim, L. E., Duclos, F. J., Broux, O., Bourg, N., Sunada, Y., Allamand, V., Meyer, J., Richard, I., Moomaw, C. R., Slaughter, C. A., et al. (1995) · Nature Genetics · doi:10.1038/ng1195-257 · Cited by 445
Re-evaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the Old Order Amish
Kelsoe, J. R., Ginns, E. I., Egeland, J. A., Gerhard, D. S., Goldstein, A. M., Bale, S. J., Pauls, D. L., Long, R. T. L., Kídd, K. K., Conte, G. L., et al. (1989) · Nature · doi:10.1038/342238a0 · Cited by 440
Linkage Disequilibrium, Gene Trees and Selfing: An Ancestral Recombination Graph With Partial Self-Fertilization
Nordborg, M. (2000) · Genetics · doi:10.1093/genetics/154.2.923 · Cited by 438
Familial Dysautonomia Is Caused by Mutations of the IKAP Gene
Anderson, S. L., Coli, R., Daly, I., Kichula, E. A., Rork, M. J., Volpi, S. A., Ekstein, J., & Rubin, B. Y. (2001) · The American Journal of Human Genetics · doi:10.1086/318808 · Cited by 429
Mutations of the Down–regulated in adenoma (DRA) gene cause congenital chloride diarrhoea
Höglund, P., Haila, S., Socha, J., Tomaszewski, L., Saarialho‐Kere, U., Karjalainen‐Lindsberg, M., Airola, K., Holmberg, C., de la Chapelle, A., & Kere, J. (1996) · Nature Genetics · doi:10.1038/ng1196-316 · Cited by 426
Drift, admixture, and selection in human evolution: a study with DNA polymorphisms.
Bowcock, A. M., Kidd, J. R., Mountain, J. L., Hebert, J. M., Carotenuto, L., Kídd, K. K., & Cavalli-Sforza, L. L. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.3.839 · Cited by 415
Dissecting Human Disease in the Postgenomic Era
Peltonen, L., & McKusick, V. A. (2001) · Science · doi:10.1126/science.291.5507.1224 · Cited by 414
Admixture as a tool for finding linked genes and detecting that difference from allelic association between loci.
Chakraborty, R., & Weiss, K. (1988) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.85.23.9119 · Cited by 404
Genetic variability maintained in a finite population due to mutational production of neutral and nearly neutral isoalleles
Kimura, M. (1968) · Genetics Research · doi:10.1017/s0016672300011459 · Cited by 393
Breeding systems and genome evolution
Charlesworth, D., & Wright, S. (2001) · Current Opinion in Genetics & Development · doi:10.1016/s0959-437x(00)00254-9 · Cited by 385
Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma
Ober, C. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.9.1393 · Cited by 382
Disease gene mapping in isolated human populations: the example of Finland.
de la Chapelle, A. (1993) · Journal of Medical Genetics · doi:10.1136/jmg.30.10.857 · Cited by 356
A Second-Generation Genomewide Screen for Asthma-Susceptibility Alleles in a Founder Population
Ober, C., Tsalenko, A., Parry, R. R., & Cox, N. J. (2000) · The American Journal of Human Genetics · doi:10.1016/s0002-9297(07)62946-2 · Cited by 354
Clinical Features of Early-Onset Alzheimer Disease in a Large Kindred With an E280A Presenilin-1 Mutation
Lopera, F. (1997) · JAMA: The Journal of the American Medical Association · doi:10.1001/jama.1997.03540340027028 · Cited by 351
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis
Ruiz‐Pérez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D. I., Woods‐Townsend, K., King, L. M., Francomano, C. A., Freisinger, P., Spranger, S., et al. (2000) · Nature Genetics · doi:10.1038/73508 · Cited by 339
A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1
Johnston, J. J., Kelley, R. I., Crawford, T. O., Morton, D. H., Agarwala, R., Koch, T., Schäffer, A. A., Francomano, C. A., & Biesecker, L. G. (2000) · The American Journal of Human Genetics · doi:10.1086/303089 · Cited by 328
Chromosome 1 loci in Finnish schizophrenia families
Ekelund, J. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.15.1611 · Cited by 311
Evolutionary relationships of human populations on a global scale.
Nei, M., & Roychoudhury, A. K. (1993) · Molecular Biology and Evolution · doi:10.1093/oxfordjournals.molbev.a040059 · Cited by 310
Strong Amerind/White Sex Bias and a Possible Sephardic Contribution among the Founders of a Population in Northwest Colombia
Carvajal‐Carmona, L. G., Soto‐Calderón, I. D., Pineda-Trujillo, N., Ortíz-Barrientos, D., Duque, C., Ospina-Duque, J., McCarthy, M. I., Montoya, P., Alvarez, V. M., Bedoya, G., et al. (2000) · The American Journal of Human Genetics · doi:10.1016/s0002-9297(07)62956-5 · Cited by 310
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis
Savukoski, M., Klockars, T., Holmberg, V., Santavuori, P., Lander, E. S., & Peltonen, L. (1998) · Nature Genetics · doi:10.1038/975 · Cited by 301
The neutral theory of molecular evolution: A review of recent evidence
KIMURA, M. (1991) · The Japanese Journal of Genetics · doi:10.1266/jjg.66.367 · Cited by 295
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases
Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E. M. T., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., GALJAARD, H., van der Spek, P. J., et al. (1999) · Nature Genetics · doi:10.1038/70585 · Cited by 294
Identification of a Novel Common Genetic Risk Factor for Lumbar Disk Disease
Paassilta, P. (2001) · JAMA · doi:10.1001/jama.285.14.1843 · Cited by 286
A Genomewide Screen for Schizophrenia Genes in an Isolated Finnish Subpopulation, Suggesting Multiple Susceptibility Loci
Hovatta, I., Varilo, T., Suvisaari, J., Terwilliger, J. D., Ollikainen, V., Arajärvi, R., Juvonen, H., Kokko-Sahin, M.-L., Väisänen, L., Mannila, H., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302567 · Cited by 281
Linkage of familial combined hyperlipidaemia to chromosome 1q21–q23
Pajukanta, P., Nuotio, I. O., Terwilliger, J. D., Porkka, K., Ylitalo, K., Pihlajamäki, J., Suomalainen, A. J., Syvänen, A., Lehtimäki, T. J., Viikari, J. S. A., et al. (1998) · Nature Genetics · doi:10.1038/ng0498-369 · Cited by 266
The Finnish population structure A genetic and genealogical study
Nevanlinna, H. R. (2009) · Hereditas · doi:10.1111/j.1601-5223.1972.tb01021.x · Cited by 261
Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation
Lopera, F. J. (1997) · JAMA · doi:10.1001/jama.277.10.793 · Cited by 255
Hereditary diseases in Finland; rare flora in rare soul.
Norio, R., Nevanlinna, H. R., & Perheentupa, J. (1973) · PubMed · Cited by 251
High incidence of malaria in α-thalassaemic children
Williams, T. N., Maitland, K., Bennett, S., Ganczakowski, M., Peto, T., Newbold, C., Bowden, D. K., Weatherall, D. J., & Clegg, J. B. (1996) · Nature · doi:10.1038/383522a0 · Cited by 238
Emergence of FY*A null in a Plasmodium vivax -endemic region of Papua New Guinea
Zimmerman, P. A., Woolley, I., Masinde, G. L., Miller, S. M., McNamara, D. T., Hazlett, F., Mgone, C. S., Alpers, M. P., Genton, B., Boatin, B. A., et al. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.24.13973 · Cited by 231
Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population.
Sajantila, A., Salem, A. H., Savolainen, P., Bauer, K., Gierig, C., & Pääbo, S. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.21.12035 · Cited by 230
Genomewide Screen and Identification of Gene-Gene Interactions for Asthma-Susceptibility Loci in Three U.S. Populations: Collaborative Study on the Genetics of Asthma
Xu, J., Meyers, D. A., Ober, C., Blumenthal, M. N., Mellen, B. G., Barnes, K. C., King, R. A., Lester, L. A., Howard, T. D., Solway, J., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/320589 · Cited by 230
Mapping by admixture linkage disequilibrium in human populations: limits and guidelines.
Stephens, J. C., Briscoe, D. A., & O’Brien, S. J. (1994) · PubMed Central · Cited by 223
Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3
Joensuu, T. H., Hämäläinen, R. H., Yuan, B., Johnson, C. K. H., Tegelberg, S., Gasparini, P., Zelante, L., Pirvola, U., Pakarinen, L., Lehesjoki, A., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/323610 · Cited by 217
Genes, Peoples and Languages
Cavalli-Sforza, L. L. (1991) · Scientific American · doi:10.1038/scientificamerican1191-104 · Cited by 212
A putative vulnerability locus to multiple sclerosis maps to 5p14–p12 in a region syntenic to the murine locus Eae2
Kuokkanen, S., Sundvall, M., Terwilliger, J. D., Tienari, P. J., Wikstrom, J., Holmdahl, R., Pettersson, U., & Peltonen, L. (1996) · Nature Genetics · doi:10.1038/ng0896-477 · Cited by 208
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
Stone, D. L., Slavotinek, A. M., Bouffard, G. G., Banerjee‐Basu, S., Baxevanis, A. D., Barr, M., & Biesecker, L. G. (2000) · Nature Genetics · doi:10.1038/75637 · Cited by 201
Dual Origins of Finns Revealed by Y Chromosome Haplotype Variation
Kittles, R. A., Perola, M., Peltonen, L., Bergen, A. W., Aragon, R., Virkkunen, M. E., Linnoila, M., Goldman, D. A., & Long, J. C. (1998) · The American Journal of Human Genetics · doi:10.1086/301831 · Cited by 200
On the rate of molecular evolution
Kimura, M., & Ohta, T. (1971) · Journal of Molecular Evolution · doi:10.1007/bf01659390 · Cited by 195
Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism
Avela, K., Lipsanen‐Nyman, M., Idänheimo, N., Seemanová, E., Rosengren, S. S., Mäkelä, T. P., Perheentupa, J., de la Chapelle, A., & Lehesjoki, A. (2000) · Nature Genetics · doi:10.1038/77053 · Cited by 189
The Genetic Dissection of Complex Traits in a Founder Population
Ober, C., Abney, M., & McPeek, M. S. (2001) · The American Journal of Human Genetics · doi:10.1086/324025 · Cited by 189
Human Genomic Diversity in Europe: A Summary of Human Genomic Diversity in Europe: A Summary of Recent Research and Prospects for the Future
Cavalli-Sforza, L. L., & Piazza, A. (1993) · European Journal of Human Genetics · doi:10.1159/000472383 · Cited by 188
A Second‐Generation Genomewide Screen for Asthma‐Susceptibility Alleles in a Founder Population
Ober, C., Tsalenko, A., Parry, R. R., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/321191 · Cited by 176
Mutations in the Na-Cl Cotransporter Reduce Blood Pressure in Humans
Cruz, D. N., Simon, D. B., Nelson-Williams, C. J., Farhi, A., Finberg, K. E., Burleson, L., Gill, J. R., & Lifton, R. P. (2001) · Hypertension · doi:10.1161/01.hyp.37.6.1458 · Cited by 175
Secondary calpain3 deficiency in 2q-linked muscular dystrophy
Haravuori, H., Vihola, A., Straub, V. W., Auranen, M., Richard, I., Marchand, S., Voït, T., Labeit, S., Somer, H., Peltonen, L., et al. (2001) · Neurology · doi:10.1212/wnl.56.7.869 · Cited by 174
Autosomal, mtDNA, and Y-Chromosome Diversity in Amerinds: Pre- and Post-Columbian Patterns of Gene Flow in South America
Mesa, N., Mondragón, M. C., Soto‐Calderón, I. D., Parra, M. V., Duque, C., Ortíz-Barrientos, D., García, L. F., Vélez, I. D., Bravo, M. L. J., Múnera, J. G., et al. (2000) · The American Journal of Human Genetics · doi:10.1016/s0002-9297(07)62955-3 · Cited by 173
Diabetes in the Old Order Amish: characterization and heritability analysis of the Amish Family Diabetes Study.
Hsueh, W.-C., Mitchell, B. D., Aburomia, R., Pollin, T. I., Sakul, H., Ehm, M. G., Michelsen, B. K., Wagner, M. J., Jean, P. L. S., Knowler, W. C., et al. (2000) · Diabetes Care · doi:10.2337/diacare.23.5.595 · Cited by 173
A genome-wide search for chromosomal loci linked to bipolar affective disorder in the Old Order Amish
Ginns, E. I., Ott, J., Egeland, J. A., Allen, C. R., Fann, C. S. J., Pauls, D. L., Weissenbach, J., Carulli, J. P., Falls, K. M., Keith, T. P., et al. (1996) · Nature Genetics · doi:10.1038/ng0496-431 · Cited by 172
Genome-wide scan in a nationwide study sample of schizophrenia families in Finland reveals susceptibility loci on chromosomes 2q and 5q
Paunio, T. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.26.3037 · Cited by 171
Mutation in gelsolin gene in Finnish hereditary amyloidosis.
Levy, E., Haltia, M., Fernandez-Madrid, I. J., Koivunen, O., Ghiso, J. A., Prelli, F., & Frangione, B. (1990) · The Journal of Experimental Medicine · doi:10.1084/jem.172.6.1865 · Cited by 158
Linkage and Association Studies of Prostate Cancer Susceptibility: Evidence for Linkage at 8p22-23
Xu, J., Zheng, S. L., Hawkins, G. A., Faith, D., Kelly, B., Isaacs, S. D., Wiley, K. E., Chang, B., Ewing, C. M., Bujnovszky, P., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/321967 · Cited by 154
Genetics and the population history of Europe
Barbujani, G., & Bertorelle, G. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.98.1.22 · Cited by 143
Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.
Ikonen, E., Baumann, M., Grön, K., Syvänen, A.-C., Enomaa, N., Halila, R., Aula, P., & Peltonen, L. (1991) · The EMBO Journal · doi:10.1002/j.1460-2075.1991.tb07920.x · Cited by 138
A Genome Scan for Type 2 Diabetes Susceptibility Loci in a Genetically Isolated Population
Permutt, M. A., Wasson, J. C., Suarez, B. K., Lin, J. Y., Thomas, J., Meyer, J. M., Lewitzky, S., Rennich, J. S., Parker, A. N., Duprat, L. J., et al. (2001) · Diabetes · doi:10.2337/diabetes.50.3.681 · Cited by 135
Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping
Cormand, B., Avela, K., Pihko, H. S., Santavuori, P., Talim, B., Topaloğlu, H., de la Chapelle, A., & Lehesjoki, A. (1999) · The American Journal of Human Genetics · doi:10.1086/302206 · Cited by 131
Genome Scan for Predisposing Loci for Distal Interphalangeal Joint Osteoarthritis: Evidence for a Locus on 2q
Leppävuori, J., Kujala, U. M., Kinnunen, J., Kaprio, J. A., Nissilä, M., Heliövaara, M., Klinger, N., Partanen, J., Terwilliger, J. D., & Peltonen, L. (1999) · The American Journal of Human Genetics · doi:10.1086/302569 · Cited by 120
Positional Cloning of Disease Genes: Advantages of Genetic Isolates
Peltonen, L. (1999) · Human Heredity · doi:10.1159/000022892 · Cited by 115
A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus
Weiler, T., Greenberg, C. R., Zelinski, T., Nylen, E., Coghlan, G., Crumley, M. J., Fujiwara, T. M., Morgan, K., & Wrogemann, K. (1998) · The American Journal of Human Genetics · doi:10.1086/301925 · Cited by 115
The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA.
Lahermo, P., Sajantila, A., Sistonen, P., Lukka, M., Aula, P., Peltonen, L., & Savontaus, M.-L. (1996) · PubMed Central · Cited by 115
Quantitative-Trait-Locus Analysis of Body-Mass Index and of Stature, by Combined Analysis of Genome Scans of Five Finnish Study Groups
Perola, M., Öhman, M. K., Hiekkalinna, T., Leppävuori, J., Pajukanta, P., Wessman, M., Koskenvuo, M. J., Palotie, A. V., Lange, K. L., Kaprio, J. A., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/321286 · Cited by 115
The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21–q24
Paavola, P., Salonen, R., Weissenbach, J., & Peltonen, L. (1995) · Nature Genetics · doi:10.1038/ng1095-213 · Cited by 112
Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states
Schaner, P. E., Richards, N. W., Wadhwa, A., Aksentijevich, I. A., Kastner, D. L., Tucker, P. K., & Gumucio, D. L. (2001) · Nature Genetics · doi:10.1038/85893 · Cited by 111
Review
Peltonen, L., Pekkarinen, P., & Aaltonen, J. (1995) · Biological Chemistry Hoppe-Seyler · doi:10.1515/bchm3.1995.376.12.697 · Cited by 110
Genetic heterogeneity in catatonic schizophrenia: A family study
Beckmann, H., Franzek, E., & Stöber, G. (1996) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19960531)67:3 · Cited by 110
Proceedings of the Third International Congress of Human Genetics
Roberts, J. A. (1969) · Europe PMC (PubMed Central) · Cited by 108
DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13–36.32 in an Italian family with cranial‐cervical or upper limb onset
Valente, E. M., Bentivoglio, A. R., Cassetta, E., Dixon, P. H., Davis, M. B., Ferraris, A., Ialongo, T., Frontali, M., Wood, N. W., & Albanese, A. (2001) · Annals of Neurology · doi:10.1002/ana.73 · Cited by 107
Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus.
Nikali, K., Suomalainen, A., Terwilliger, J. D., Koskinen, T., Weissenbach, J., & Peltonen, L. (1995) · PubMed Central · Cited by 106
Shared HLA antigens and reproductive performance among Hutterites.
Ober, C. L., Martin, A. O., Simpson, J. L., Hauck, W. W., Amos, D. B., Kostyu, D. D., Fotino, M., & Allen, F. H. (1983) · PubMed · Cited by 105
Low Prevalence of Psychoses Among the Hutterites, an Isolated Religious Community
Nimgaonkar, V. L., Fujiwara, T. M., Dutta, M., Wood, J., Gentry, K., Maendel, S., Morgan, K., & Eaton, J. (2000) · American Journal of Psychiatry · doi:10.1176/appi.ajp.157.7.1065 · Cited by 104
Ellis-van Creveld syndrome and the Amish
McKusick, V. A. (2000) · Nature Genetics · doi:10.1038/73389 · Cited by 102
Aberrant splicing of the CHM gene is a significant cause of choroideremia
Sankila, E., Tolvanen, R., van den Hurk, J. A. J. M., Cremers, F. P. M., & de la Chapelle, A. (1992) · Nature Genetics · doi:10.1038/ng0592-109 · Cited by 99
Biocultural Aspects of Disease
Cooper, R. (1982) · JAMA · doi:10.1001/jama.1982.03330020074037 · Cited by 98
Geographic patterns: how to identify them and why.
Barbujani, G. (2000) · PubMed · Cited by 98
Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.
Biery, B. J., Stein, D. E., Morton, D. H., & Goodman, S. I. (1996) · PubMed Central · Cited by 97
Vitiligo: complex segregation and linkage disequilibrium analyses with respect to microsatellite loci spanning the HLA
Arcos‐Burgos, M., Parodi, E., Salgar, M., Bedoya, E., Builes, J. J., J., D. E. J., Gabriel Ceballos, C., Uribe, A., Rivera, N., Rivera, D., et al. (2002) · Human Genetics · doi:10.1007/s00439-002-0687-5 · Cited by 94
Self-citation
Assignment of the Tibial Muscular Dystrophy Locus to Chromosome 2q31
Haravuori, H., Mäkelä‐Bengs, P., Udd, B., Partanen, J. V., Pulkkinen, L., Somer, H., & Peltonen, L. (1998) · The American Journal of Human Genetics · doi:10.1086/301752 · Cited by 91
Genome-Wide Scan of Obesity in the Old Order Amish
Hsueh, W., Mitchell, B. D., Schneider, J. L., Jean, P. L. S., Pollin, T. I., Ehm, M. G., Wagner, M. J., Burns, D. K., Sakul, H., Bell, C. J., et al. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.3.7358 · Cited by 91
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.
Kure, S., Takayanagi, M., Narisawa, K., Tada, K., & Leisti, J. (1992) · Journal of Clinical Investigation · doi:10.1172/jci115831 · Cited by 91
The Importance of Genealogy in Determining Genetic Associations with Complex Traits
Newman, D. L., Abney, M., McPeek, M. S., Ober, C., & Cox, N. J. (2001) · The American Journal of Human Genetics · doi:10.1086/323659 · Cited by 90
QTL Influencing Blood Pressure Maps to the Region of PPH1 on Chromosome 2q31-34 in Old Order Amish
Hsueh, W., Mitchell, B. D., Schneider, J. L., Wagner, M. J., Bell, C. J., Nanthakumar, E. J., & Shuldiner, A. R. (2000) · Circulation · doi:10.1161/01.cir.101.24.2810 · Cited by 89
Molecular and cellular genetics of fragile X syndrome
Kaufmann, W. E., & Reiss, A. L. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990205)88:1 · Cited by 88
Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis
Tahvanainen, E., Norio, R., Karila, E., Ranta, S., Weissenbach, J., Sistonen, P., & de la Chapelle, A. (1994) · Nature Genetics · doi:10.1038/ng0694-201 · Cited by 87
The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8.
Tahvanainen, E., Ranta, S., Hirvasniemi, A., Karila, E., Leisti, J., Sistonen, P., Weissenbach, J., Lehesjoki, A., & de la Chapelle, A. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.15.7267 · Cited by 83
An association study of bipolar mood disorder (type I) with the 5-HTTLPR serotonin transporter polymorphism in a human population isolate from Colombia
Ospina-Duque, J., Duque, C., Carvajal‐Carmona, L. G., Ortíz-Barrientos, D., Soto‐Calderón, I. D., Pineda-Trujillo, N., Arias, J. M. C., Calle, J., López‐Jaramillo, C., Ochoa, L., et al. (2000) · Neuroscience Letters · doi:10.1016/s0304-3940(00)01464-6 · Cited by 81
Asthma on Tristan da Cunha: Looking for the Genetic Link. The University of Toronto Genetics of Asthma Research Group
Zamel, N., McClean, P. A., Sandell, P. R., Siminovitch, K. A., & Slutsky, A. S. (1996) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/ajrccm.153.6.8665053 · Cited by 80
Homozygous Deletion in KVLQT1 Associated With Jervell and Lange-Nielsen Syndrome
Chen, Q., Zhang, D., Gingell, R. L., Moss, A. J., Napolitano, C., Priori, S. G., Schwartz, P. J., Kehoe, E., Robinson, J. L., Schulze‐Bahr, E., et al. (1999) · Circulation · doi:10.1161/01.cir.99.10.1344 · Cited by 80
Human mitochondrial DNA types in two Israeli populations--a comparative study at the DNA level.
Bonné, B., Johnson, M. J., Natali, A., Wallace, D. C., & Cavalli-Sforza, L. L. (1986) · PubMed · Cited by 79
Assignment of the Locus for Congenital Lactase Deficiency to 2q21, in the Vicinity of but Separate from the Lactase-Phlorizin Hydrolase Gene
Järvelä, I. E., Enattah, N. S., Kokkonen, J., Varilo, T., Savilahti, E., & Peltonen, L. (1998) · The American Journal of Human Genetics · doi:10.1086/302064 · Cited by 79
Conditional linkage disequilibrium analysis of a complex disease superlocus, IDDM1 in the HLA region, reveals the presence of independent modifying gene effects influencing the type 1 diabetes risk encoded by the major HLA-DQB1, -DRB1 disease loci
Zavattari, P. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.8.881 · Cited by 79
At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.
Mitchell, G. A., Brody, L. C., Sipilä, I., Looney, J. E., Wong, C., Engelhardt, J. F., Patel, A. S., Steel, G., Obie, C., & Kaiser‐Kupfer, M. I. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.1.197 · Cited by 78
Evidence for a chromosome 2p13–14 schizophrenia susceptibility locus in families from Palau, Micronesia
Coon, H. H., Myles‐Worsley, M., Tiobech, J., Hoff, M., Rosenthal, J., Bennett, P., Reimherr, F. W., Wender, P. H., Dale, P. W., Polloi, A., et al. (1998) · Molecular Psychiatry · doi:10.1038/sj.mp.4000453 · Cited by 75
History and relevance of the Hutterite population for genetic studies
Hostetler, J. A., Opitz, J. M., & Reynolds, J. F. (1985) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320220303 · Cited by 74
Gene Mapping in Isolated Populations: New Roles for Old Friends?
Jorde, L. B., Watkins, W. S., Kere, J., Nyman, D., & Eriksson, A. W. (1999) · Human Heredity · doi:10.1159/000022891 · Cited by 72
Autosomal, mtDNA, and Y‐Chromosome Diversity in Amerinds: Pre‐ and Post‐Columbian Patterns of Gene Flow in South America
Mesa, N. R., Mondragón, M. C., Soto‐Calderón, I. D., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/321214 · Cited by 72
Nonocclusal dental microwear analysis of 300,000-year-oldHomo heilderbergensisTeeth from Sima de los Huesos (Sierra de Atapuerca, Spain)
P�rez-P�rez, A., de Castro, J. B., & Arsuaga, J. L. (1999) · American Journal of Physical Anthropology · doi:10.1002/(sici)1096-8644(199904)108:4 · Cited by 71
Genetic isolates: separate but equal?
Kruglyak, L. (1999) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.96.4.1170 · Cited by 70
Archival, demographic and genetic studies define a Sardinian sub-isolate as a suitable model for mapping complex traits
Angius, A., Melis, P. M., Morelli, L., Petretto, E. G., Casu, G., Maestrale, G. B., Fraumene, C., Bebbere, D., Forabosco, P., & Pirastu, M. (2001) · Human Genetics · doi:10.1007/s004390100557 · Cited by 69
Localization of the Gene for the Intermediate Form of Charcot-Marie-Tooth to Chromosome 10q24.1-q25.1
Verhoeven, K., Villanova, M., Rossi, A., Malandrini, A., Jonghe, P. D., & Timmerman, V. (2001) · The American Journal of Human Genetics · doi:10.1086/323742 · Cited by 69
Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor–vitamin B12 by cubilin
Kristiansen, M., Aminoff, M., Jacobsen, C. B., de la Chapelle, A., Krahe, R., Verroust, P. J., & Moestrup, S. K. (2000) · Blood · doi:10.1182/blood.v96.2.405 · Cited by 69
Genetic variation in paraoxonase-1 and paraoxonase-2 is associated with variation in plasma lipoproteins in Alberta Hutterites
Boright, A. P., Connelly, P. W., Brunt, J., Scherer, S. W., Tsui, L., & Hegele, R. A. (1998) · Atherosclerosis · doi:10.1016/s0021-9150(98)00071-9 · Cited by 68
Genomewide Multipoint Linkage Analysis of Seven Extended Palauan Pedigrees with Schizophrenia, by a Markov-Chain Monte Carlo Method
Camp, N. J., Neuhausen, S. L., Tiobech, J., Polloi, A., Coon, H. H., & Myles‐Worsley, M. (2001) · The American Journal of Human Genetics · doi:10.1086/324590 · Cited by 65
The effect of hitch-hiking on genes linked to a balanced polymorphism in a subdivided population
Schierup, M. H., Charlesworth, D., & Vekemans, X. (2000) · Genetics Research · doi:10.1017/s0016672300004547 · Cited by 63
Molecular Background of the Finnish Disease Heritage
Peltonen, L. (1997) · Annals of Medicine · doi:10.3109/07853899709007481 · Cited by 61
Estimation of race admixture--a new method.
Chakraborty, R. (1975) · American Journal of Physical Anthropology · doi:10.1002/ajpa.1330420319 · Cited by 61
High-Resolution Physical and Transcriptional Mapping of the Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy Locus on Chromosome 21q22.3 by FISHPreprint
Aaltonen, J., Horelli‐Kuitunen, N., Fan, J., Björses, P., Perheentupa, J., Myers, R., Palotie, A. V., & Peltonen, L. (1997) · Genome Research · doi:10.1101/gr.7.8.820 · Cited by 60
Polymorphisms and phyletic relationships of the Paisa community from Antioquia (Colombia).
Ml, B., Cy, V., & Arcos‐Burgos, M. (1996) · PubMed · Cited by 59
Self-citation
GROUP INBREEDING WITH TWO LINKED LOCI
Weir, B. S., & Cockerham, C. C. (1969) · Genetics · doi:10.1093/genetics/63.3.711 · Cited by 58
Assignment of the Disease Locus for Lethal Congenital Contracture Syndrome to a Restricted Region of Chromosome 9q34, by Genome Scan Using Five Affected Individuals
Mäkelä‐Bengs, P., Järvinen, N., Vuopala, K. S., Suomalainen, A., Ignatius, J., Sipilä, M., Herva, R., Palotie, A. V., & Peltonen, L. (1998) · The American Journal of Human Genetics · doi:10.1086/301968 · Cited by 58
A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia
Pineda-Trujillo, N., Carvajal‐Carmona, L. G., Buriticá, O., Moreno, S., Uribe, C. S., Pineda, D. A., Toro, M. F., Garcı́a, F., Arias, W. H., Bedoya, G., et al. (2001) · Neuroscience Letters · doi:10.1016/s0304-3940(00)01733-x · Cited by 58
DNA Variation and Language Affinities
Barbujani, G. (1997) · The American Journal of Human Genetics · doi:10.1086/301620 · Cited by 56
Genetic Variation on Chromosome 1 Associated With Variation in Body Fat Distribution in Men
Hegele, R. A., Brunt, J., & Connelly, P. W. (1995) · Circulation · doi:10.1161/01.cir.92.5.1089 · Cited by 54
Genome-Wide Scan of Obesity in the Old Order Amish
Hsueh, W. C. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.86.3.1199 · Cited by 54
Linkage study of the α2A adrenergic receptor in attention-deficit hyperactivity disorder families
Xu, C., Schachar, R. J., Tannock, R., Roberts, W., MALONE, M. A., Kennedy, J. L., & Barr, C. L. (2001) · American Journal of Medical Genetics · doi:10.1002/1096-8628(2001)9999:9999 · Cited by 53
Rheumatoid arthritis association in Colombian population is restricted to HLA-DRB1*04 QRRAA alleles
Anaya, J., Corréa, P., Mantilla, R. D., & Arcos‐Burgos, M. (2002) · Genes and Immunity · doi:10.1038/sj.gene.6363833 · Cited by 49
Self-citation
The genetic origin of the Jews: a multivariate approach.
Carmelli, D., & Cavalli-Sforza, L. L. (1979) · PubMed · Cited by 49
Are the Basques a single and a unique population?
Aguirre, A. I., Vicario, A., Mazón, L. I., Estomba, A., de Pancorbo, M. M., Picó, V. A., Elortondo, F. J. P., & Lostao, C. M. (1991) · Europe PMC (PubMed Central) · Cited by 48
Recombination of haplotypes leads to biased estimates of admixture proportions in human populations.
Chakraborty, R., & Smouse, P. E. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.9.3071 · Cited by 46
A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15
Morlé, L., Bozon, M., Zech, J., Alloisio, N., Raas‐Rothschild, A., Philippe, C., Lambert, J. C., Godet, J., Plauchu, H., & Edery, P. (2000) · The American Journal of Human Genetics · doi:10.1086/316894 · Cited by 46
Assignment of the Locus for PLO-SL, a Frontal-Lobe Dementia with Bone Cysts, to 19q13
Pekkarinen, P., Hovatta, I., Hakola, P., JÄRVI, O. H., Kestilä, M., Lenkkeri, U., Adolfsson, R., Holmgren, G., Nylander, P., Tranebjærg, L., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301722 · Cited by 44
TAP, HLA-DQB1, and HLA-DRB1 polymorphism in Colombian patients with primary Sjögren's syndrome
Anaya, J., Corréa, P., Mantilla, R. D., & Arcos‐Burgos, M. (2002) · Seminars in Arthritis and Rheumatism · doi:10.1053/sarh.2002.32557 · Cited by 44
Self-citation
Estimation of inbreeding parameters in stratified populations
Cockerham, C. C., & Weir, B. S. (1986) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1986.tb01048.x · Cited by 44
Surnames as neutral alleles: observations in Sardinia.
Zei, G., Guglielmino, C. R., Siri, E., Moroni, A., & Cavalli-Sforza, L. L. (1983) · PubMed · Cited by 44
Genetic analysis in Finnish families with inflammatory bowel disease supports linkage to chromosome 3p21
Paavola, P., Heliö, T. M., Kiuru, M. H., Halme, L., Turunen, U., Terwilliger, J. D., Karvonen, A., Julkunen, R. J. K., Niemelä, S., Nurmi, H., et al. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200626 · Cited by 43
INBREEDING AND PREREPRODUCTIVE MORTALITY IN THE OLD ORDER AMISH. I. GENEALOGIC EPIDEMIOLOGY OF INBREEDING
Khoury, M. J., Cohen, B. H., Diamond, E. L., Chase, G. A., & McKusick, V. A. (1987) · American Journal of Epidemiology · doi:10.1093/oxfordjournals.aje.a114551 · Cited by 42
Cladistic association analysis of Y chromosome effects on alcohol dependence and related personality traits
Kittles, R. A., Long, J. C., Bergen, A. W., Eggert, M., Virkkunen, M. E., Linnoila, M., & Goldman, D. A. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.7.4204 · Cited by 41
Socioeconomic assortative mating in Santiago, Chile: A demonstration using stochastic matrices of mother‐child relationships applied to ABO blood groups
Valenzuela, C. Y., & Harb, Z. (1977) · Social Biology · doi:10.1080/19485565.1977.9988285 · Cited by 41
A Locus for an Autosomal Dominant Form of Progressive Renal Failure and Hypertension at Chromosome 1q21
Cohn, D. H., Shohat, T., Yahav, M., Ilan, T., Rechavi, G., King, L. M., & Shohat, M. (2000) · The American Journal of Human Genetics · doi:10.1086/303051 · Cited by 40
Genome screening for linkage disequilibrium in a Costa Rican sample of patients with bipolar-I disorder: A follow-up study on chromosome 18
Escamilla, M., McInnes, L. A., Service, S. K., Spesny, M., Reus, V. I., Molina, J., Gallegos, Á., Fournier, E., Batki, S. L., Neylan, T. C., et al. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1205 · Cited by 40
Identification of a New Candidate Locus for Uric Acid Nephrolithiasis
Ombra, M. N., Forabosco, P., Casula, S., Angius, A., Maestrale, G., Petretto, E. G., Casu, G., Colussi, G., Usai, E., Melis, P. M., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/320105 · Cited by 40
Fine-scale mapping of a locus for severe bipolar mood disorder on chromosome 18p11.3 in the Costa Rican population
McInnes, L., Service, S., Reus, V., Barnes, G., Charlat, O., Jawahar, S., Lewitzky, S., Yang, Q., Duong, Q., Spesny, M., et al. (2001) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.191519098 · Cited by 40
A follow-up report of a genome search for affective disorder predisposition loci in the Old Order Amish.
Labuda, M. C., Maldonado, M., Marshall, D., Otten, K., & Gerhard, D. S. (1996) · PubMed Central · Cited by 36
Assignment of the Locus for Hydrolethalus Syndrome to a Highly Restricted Region on 11q23-25
Visapää, I., Salonen, R., Varilo, T., Paavola, P., & Peltonen, L. (1999) · The American Journal of Human Genetics · doi:10.1086/302603 · Cited by 36
Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities
Lee, M., Gordon, D., Ott, J., Lu, K., Ose, L., Miettinen, T. A., Gylling, H., Stalenhoef, A. F. H., Pandya, A., Hidaka, H., et al. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200628 · Cited by 36
Do Basque- and Caucasian- Speaking Populations Share Non-Indo-European Ancestors?
Calafell, F., Nasidze, I. S., Barbujani, G., Bertorelle, G., & Bertranpetit, J. (1995) · European Journal of Human Genetics · doi:10.1159/000472306 · Cited by 33
The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.
Haataja, L. M., Schleutker, J., Laine, A., Renlund, M., Savontaus, M. L., Dib, C., Weissenbach, J., Peltonen, L., & Aula, P. (1994) · PubMed Central · Cited by 33
Linkage Disequilibrium Mapping of the Gene for Margarita Island Ectodermal Dysplasia (ED4) to 11q23
Suzuki, K., Bustos, T., & Spritz, R. A. (1998) · The American Journal of Human Genetics · doi:10.1086/302072 · Cited by 33
Current topic: HLA and reproduction: Lessons from studies in the Hutterites
Ober, C. (1995) · Placenta · doi:10.1016/0143-4004(95)90026-8 · Cited by 33
Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis
Tahvanainen, E., Forsius, H. R., Karila, E., Ranta, S., Eerola, M., Weissenbach, J., Sistonen, P., & de la Chapelle, A. (1995) · Genomics · doi:10.1016/0888-7543(95)80213-6 · Cited by 33
Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage.
Aminoff, M., Tahvanainen, E., Gräsbeck, R., Weissenbach, J., Broch, H., & de la Chapelle, A. (1995) · PubMed Central · Cited by 33
Linkage to atopy on chromosome 19 in north‐eastern Italian families with allergic asthma
Venanzi, S., Malerba, G., Galavotti, R., Lauciello, M. C., Trabetti, E., Zanoni, G., Pescollderungg, L., Martinati, L. C., Boner, A. L., & Pignatti, P. F. (2001) · Clinical & Experimental Allergy · doi:10.1046/j.1365-2222.2001.01132.x · Cited by 33
Mapping genes for complex traits in founder populations
Ober, & Cox (1998) · Clinical & Experimental Allergy · doi:10.1046/j.1365-2222.1998.0280s1101.x · Cited by 32
Prevalence of psychosis among the Hutterites: a reanalysis of the 1950–1953 study
Torrey, Ε. F. (1995) · Schizophrenia Research · doi:10.1016/0920-9964(95)00042-k · Cited by 32
Genetic and Biochemical Factors Associated With Variation in Blood Pressure in a Genetic Isolate
Hegele, R. A., Brunt, J., & Connelly, P. W. (1996) · Hypertension · doi:10.1161/01.hyp.27.2.308 · Cited by 30
Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor–vitamin B12 by cubilin
Kristiansen, M., Aminoff, M., Jacobsen, C. B., et al. (2000) · Blood · doi:10.1182/blood.v96.2.405.014k16_405_409 · Cited by 30
Surnames in Sardinia II. Computation of migration matrices from surname distributions in different periods
Wijsman, E. M., Zei, G., Moroni, A., & Cavalli-Sforza, L. L. (1984) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1984.tb00836.x · Cited by 28
Genetic analysis of HLA in the U.S. Schmiedenleut Hutterites.
Kostyu, D. D., Ober, C. L., Dawson, D. V., Ghanayem, M., Elias, S., & Martin, A. O. (1989) · PubMed · Cited by 25
Spatial subdivision of populations and estimates of genetic variation
Cavalli-Sforza, L. L., & Feldman, M. W. (1990) · Theoretical Population Biology · doi:10.1016/0040-5809(90)90024-p · Cited by 25
Ancestral and recombinant 16-locus HLA haplotypes in the Hutterites
WEITKAMP, L. R., & Ober, C. (1999) · Immunogenetics · doi:10.1007/s002510050525 · Cited by 25
Idiopathic epilepsy with generalized tonic clonic seizures in Antioquia, Colombia: is the joint Amerindian and Negroid racial admixture the cause of its high prevalence?
Jiménez, I., Mora, O., López, G., Jiménez, M. E., Zuluga, L., Isaza, R., Sanchez, J. L., Uribe, C. S., Valenzuela, C. Y., Blanco, R., et al. (1996) · PubMed · Cited by 24
Self-citation
Assignment of the Locus for a New Lethal Neonatal Metabolic Syndrome to 2q33-37
Visapää, I., Fellman, V., Varilo, T., Palotie, A. V., Raivio, K. O., & Peltonen, L. (1998) · The American Journal of Human Genetics · doi:10.1086/302123 · Cited by 24
Surnames as Neutral Alleles: Observations in Sardinia
Zei, G., Guglielmino, C. R., Siri, E., Moroni, A., & Ll, C.-S. (2020) · Human Biology · Cited by 24
Identification of Disease Genes in Genetic Isolates
Peltonen, L. (1996) · Methods · doi:10.1006/meth.1996.0017 · Cited by 23
Confirmation of the DRB1-DQB1 loci as the major component of IDDM1 in the isolated founder population of Sardinia
Zavattari, P. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.20.2967 · Cited by 23
Novel X-linked mental retardation syndrome with short stature maps to Xq24
Vitale, E., Specchia, C., Devoto, M., Angius, A., Sun, R., Rocchi, M., Schwalb, M. N., Demelas, L., Paglietti, D., Manca, S., et al. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1495 · Cited by 20
Discriminación de factores genéticos en el déficit de atención
Restrepo, F. L., Palacio, L. G., Ramírez, I. J., Villegas, P., Puerta, I. C., Pineda, D. A., Jaramillo, M. E. J., & Arcos‐Burgos, M. (1999) · Revista de Neurología · doi:10.33588/rn.2807.98517 · Cited by 20
Self-citation
Analysis of HLA Haplotype Segregation in the Schmiedeleut Hutterites of South Dakota
Bryttan, J. M., Kostyu, D. D., Ober, C., Elias, S., & Dawson, D. V. (1994) · Human Heredity · doi:10.1159/000154215 · Cited by 19
Rare Disease Genes—Lessons and ChallengesPreprint
Peltonen, L., & Uusitalo, A. (1997) · Genome Research · doi:10.1101/gr.7.8.765 · Cited by 18
Genetic studies in American inbred populations with particular reference to the Old Order Amish.
Va, M. (1974) · PubMed · Cited by 18
Multiple Sclerosis: Association to HLA DQα in a Tropical Population
Arcos‐Burgos, M., Palacio, G., Sánchez, J. L., Londoño, A. C., Uribe, C. S., Jiménez, M. E., Villa, A., Anaya, J., Bravo, M. L. J., Jaramillo, N., et al. (1999) · Experimental and Clinical Immunogenetics · doi:10.1159/000019105 · Cited by 14
Self-citation
Blood groups in two Amish demes
McKusick, V. A., Bias, W. Β., Norum, R. A., & Cross, H. E. (1967) · Human Genetics · doi:10.1007/bf00286209 · Cited by 14
Searching for a major genetic locus for affective disorder in the old order Amish
Kidd, J. R., Egeland, J. A., Pakstis, A. J., Castiglione, C. M., Pletcher, B. A., Morton, L. A., & Kídd, K. K. (1987) · Journal of Psychiatric Research · doi:10.1016/0022-3956(87)90107-5 · Cited by 12
Hallazgos neuropatológicos en la enfermedad de Alzheimer de inicio temprano (mutación E280A-PS1)
Castaño, A. D., Roldán, M., Viana, J. C. A., Arcos‐Burgos, M., Cubillo, H., & Restrepo, F. L. (1999) · Revista de Neurología · doi:10.33588/rn.2901.99122 · Cited by 11
Self-citation
New data for AG haplotype frequencies in Caucasoid populations and selective neutrality of the AG polymorphism.
Sanchez‐Mazas, A., Bütler-Brunner, E., Excoffier, L., Ghanem, N., Salem, M. B., Bréguet, G., Dard, P., Pellegrini, B., Tikkanen, M. J., & Langaney, A. (1994) · PubMed · Cited by 10
Localisation of the gene responsible for Fechtner syndrome in a region <600 Kb on 22q11–q13
Cusano, R., Gangarossa, S., Forabosco, P., Caridi, G., Ghiggeri, G. M., Russo, G. M., Iolascon, A., Ravazzolo, R., & Seri, M. (2000) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200533 · Cited by 10
Genetic Architecture of Temperament
Lichtermann, D., Ekelund, J., Peltonen, L., & Järvelin, M. (2001) · American Journal of Psychiatry · doi:10.1176/appi.ajp.158.8.1339 · Cited by 8
Caracterización clínica de una familia numerosa con enfermedad vascular cerebral hereditaria en Colombia
Restrepo, F. L., Velázquez, J. A., Másmela, S. M., Almeida, N., Arias, J. M. C., & Arcos‐Burgos, M. (2000) · Revista de Neurología · doi:10.33588/rn.3110.2000389 · Cited by 8
Self-citation
DNA Profiling in a Genetically Isolated Population Using Three Hypervariable DNA Markers
Sajantila, A., Makkonen, K., Ehnholm, C., & Peltonen, L. (1992) · Human Heredity · doi:10.1159/000154100 · Cited by 7
Esclerosis múltiple: aproximación epidemiológico-genética en habitantes de Antioquia, Colombia. Desequilibrio de ligamiento al HLA Dqa
Sánchez, J., Palacio, L. G., Londoño, A. C., Uribe, C. S., Jaramillo, M. E. J., Villa, L. A., Anaya, J., Bravo, M. L. J., Jaramillo, N., Berrio, G. B., et al. (2000) · Revista de Neurología · doi:10.33588/rn.3002.99377 · Cited by 6
Self-citation
Análisis de segregación compleja de una familia numerosa con enfermedad cerebrovascular hereditaria en Antioquia (Colombia)
Restrepo, F. L., García, N. A. R., Velázquez, J. A., Arango, T. R., & Arcos‐Burgos, M. (2001) · Revista de Neurología · doi:10.33588/rn.3203.2000427 · Cited by 6
Self-citation
DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13–36.32 in an Italian family with cranial‐cervical or upper limb onset
Valente, E. M., Bentivoglio, A. R., Cassetta, E., et al. (2001) · Annals of Neurology · doi:10.1002/ana.73.abs · Cited by 6
Plant Self-Incompatibility: The key to specificity
Charlesworth, D. (1994) · Current Biology · doi:10.1016/s0960-9822(00)00121-4 · Cited by 4
Modo de herencia de epilepsia idiopática generalizada no mioclónica en familias pesquisadas a través de probandos afectados de epilepsia idiopática con crisis tonicoclónicas del despertar en Antioquia, Colombia
Mora, O., Ramírez, I. J., Palacio, L. G., Jaramillo, M. E. J., Múnera, J. L. S., Zuluaga, L., Uribe, C. S., Bermúdez, R. A. I., Muñoz, A., & Burgos, O. M. A. (1999) · Revista de Neurología · doi:10.33588/rn.2808.98250 · Cited by 1
[Segregation analysis program for personal computers and microcomputers].
Bianco, M., Barbujani, G., Danieli, G. A., & Barrai, I. (1983) · PubMed · Cited by 1
[Antiochian genealogies in which idiopathic epilepsy presents familial conglomeration. Simulations of power for the detection of genetic linkage].
Arcos‐Burgos, M., Palacio, L. G., Jiménez, I., Pineda-Trujillo, N., Mora, O., Sánchez, J. L., Jiménez, M. J. U., Muñoz, A., Brancolini, V., Devoto, M., et al. (1998) · PubMed · Cited by 1
Self-citation
[Finnish heredity even in hearing disorders?].
Pakarinen, L., & Sankila, E. M. (1998) · PubMed · Cited by 1
[Block mating selection model in a random mating population].
Cy, V. (1973) · PubMed · Cited by 1
E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles
Lendon, C. L., Martinez, A., Behrens, I. M., Kosik, K. S., Madrigal, L., Norton, J., Neuman, R., Myers, A., Busfield, F., Wragg, M., et al. (1997) · Human Mutation · doi:10.1002/(sici)1098-1004(1997)10:3
Self-citation
Untitled work
Aleck (1997) · doi:10.1002/(sici)1096-8628(19971031)72:3

Research works printed but not linked: 17

Peltonen L, 1995, Messages from an isolate: lessons from the Finnish gene pool, Biol Chem Hoppe Seyler, 376, 697
McInnes LA, 2000, Fine‐scale mapping of a locus for severe bipolar mood disorder on chromosome 18p11.3 in the Costa Rican population, Proc Natl Acad Sci USA, 198, 11485
Cavalli‐SforzaL MenozziP PiazzaA.The history and geography of human genes. Princeton NJ:Princeton University Press 1994.
Hostetler JA., 1974, Hutterite society
BleibtreuHK.Marriage and residence patterns in a genetic isolate. Cambridge MA:PhD Thesis Harvard 1964.
10.1093/hmg/7.9.1393 · DOI
Bravo ML, 2000, Polymorphisms of classical markers and phenetic relationships of a Black community inhabiting Chocó State in Colombia, Homo, 51, 132
Parsons JJ., 1949, Antioqueño colonization in western Colombia
Bravo ML, 1996, Polymorphisms and phyletic relationships of the Paisa community from Antioquia (Colombia), Gene Geogr, 10, 11
Lopera F, 2000, Clinical characteristics of hereditary cerebrovascular disease in a large family from Colombia, Rev Neurol, 31, 901
Lopera F, 2001, Analysis of complex segregation in a large family with hereditary cerebrovascular disease in Antioquia, Columbia, Rev Neurol, 32, 222
Mora O, 1999, Mode of inheritance of idiopathic generalized non‐myoclonic epilepsy in families investigated by studying members with idiopathic epilepsy with tonic‐clonic crises on waking, Antioquia, Colombia, Rev Neurol, 28, 768
Lopera F, 1999, Discrimination between genetic factors in attention deficit, Rev Neurol, 28, 660
Duque‐Castano A, 1999, Neuropathological findings in early‐onset Alzheimer's disease (E280a‐PS1 mutation), Rev Neurol, 29, 1
10.1038/ng0496-431 · DOI
Sanchez JL, 2000, Multiple sclerosis: epidemiological‐genetic studies in the population of Antioquia, Colombia Disequilibrium HLA DQ Alpha, Rev Neurol, 30, 170
AnayaJM CorreaPA MantillaRD Arcos‐BurgosM.Primary Sjogren syndrome: linkage disequilibrium analysis to TAP1 TAP2 HLA‐DQB1 HLA‐DRB1 IL‐10.G and IL‐10 loci in Colombian patients.Seminars Arthritis Rheumatism2002: (In press).

Sorted by citations

Inbreeding and runs of homozygosity: A possible solution to an old problem
Čurik, I., Ferenčaković, M., & Sölkner, J. (2014) · Livestock Science · doi:10.1016/j.livsci.2014.05.034 · Cited by 419
Patterns of Human Genetic Diversity: Implications for Human Evolutionary History and Disease
Tishkoff, S. A., & Verrelli, B. C. (2003) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.4.070802.110226 · Cited by 396
Attention-Deficit/Hyperactivity Disorder in a Population Isolate: Linkage to Loci at 4q13.2, 5q33.3, 11q22, and 17p11
Arcos‐Burgos, M., Castellanos, F. X., Pineda, D. A., Lopera, F. J., Palacio, J. D., Palacio, L. G., Rapoport, J. L., Berg, K. A., Wilson, J., & Muenke, M. (2004) · The American Journal of Human Genetics · doi:10.1086/426154 · Cited by 211
Self-citation
The importance of gene–environment interactions in human obesity
Reddon, H., Guéant, J., & Meyre, D. (2016) · Clinical Science · doi:10.1042/cs20160221 · Cited by 210
The promise of discovering population-specific disease-associated genes in South Asia
Nakatsuka, N. J., Moorjani, P., Rai, N., Sarkar, B., Tandon, A., Patterson, N. J., Bhavani, G. S., Girisha, K. M., Mustak, M. S., Srinivasan, S., et al. (2017) · Nature Genetics · doi:10.1038/ng.3917 · Cited by 169

See all 275

Authors: Arcos‐Burgos, M., & Muenke, M.
Affiliations: National Institutes of Health (US)
Corresponding author: Muenke, M
ORCID: Arcos‐Burgos, M
Muenke, M
Venue: Clinical Genetics
Publisher: Wiley
Published: 2002-04
Volume: 61
Issue: 4
Pages: 233-247
ISSN: 0009-9163 (ISSN-L)
1399-0004
DOI: 10.1034/j.1399-0004.2002.610401.x
OpenAlex: W2148533501
Cited by: 271
References: 195
Citations by year: 2026: 2 · 2025: 6 · 2024: 21 · 2023: 7 · 2022: 3 · 2021: 13 · 2020: 7 · 2019: 9 · 2018: 9 · 2017: 11 · 2016: 10 · 2015: 21 · 2014: 16 · 2013: 12 · 2012: 11
FWCI: 1.31
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor, 56 d)
Locations: Clinical Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
Keywords: isolated populations, founder populations, inbreeding, genetic drift, linkage disequilibrium, founder effect, admixture, gene mapping, genetic disorders, Old Order Amish, Hutterites, Finnish population, Sardinian population, Jewish population, Mendelian traits, complex traits, pedigree
MeSH terms: Christianity, Colombia, Finland, Genetics, Population, Humans, United States, Genetic Diseases, Inborn

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Genetics of population isolates

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks