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2
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0031834225
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It's raining SNPs, hallelujah
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of special interest. This 'News and Views' article presents Chakravarti's somewhat more optimistic viewpoint about the utility of an SNP map for identification of alleles predisposing to human complex disease.
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Chakravarti A. It's raining SNPs, hallelujah. of special interest Nat Genet. 19:1998;216-217 This 'News and Views' article presents Chakravarti's somewhat more optimistic viewpoint about the utility of an SNP map for identification of alleles predisposing to human complex disease.
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Nat Genet
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Chakravarti, A.1
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3
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0028949919
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Random search for shared chromosomal regions in four affected individuals: The assignment of a new hereditary ataxia locus
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Nikali K, Suomalainen A, Terwilliger JD, Koskine T, Weissenbach J, Peltonen L. Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus. Am J Hum Genet. 56:1995;1088-1095.
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Am J Hum Genet
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Nikali, K.1
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Terwilliger, J.D.3
Koskine, T.4
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Peltonen, L.6
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The future of genetic studies of complex human diseases
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Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science. 273:1996;1516-1517.
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Science
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Risch, N.1
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5
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Nevanlinna HR. The Finnish population structure: a genetic and genealogical study. Hereditas. 71:1972;195-236.
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Nevanlinna, H.R.1
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6
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0028618372
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A missense mutation of the endothelin-B receptor gene in multigenic Hirschspung's disease
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Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravat A. A missense mutation of the endothelin-B receptor gene in multigenic Hirschspung's disease. Cell. 79:1994;1257-1266.
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Puffenberger, E.G.1
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Washington, S.S.3
Nakao, K.4
Dewit, D.5
Yanagisawa, M.6
Chakravat, A.7
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7
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0028940272
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Variability of the genetic contribution of Quebec population founders associated to some deleterious genes
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Heyer E, Tremblay M. Variability of the genetic contribution of Quebec population founders associated to some deleterious genes. Am J Hum Genet. 56:1995;970-978.
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Am J Hum Genet
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Heyer, E.1
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8
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0029151236
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Genetic consequences of differential demographic behaviour in the Seguenay region, Québec
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Heyer E. Genetic consequences of differential demographic behaviour in the Seguenay region, Québec. Am J Phys Anthropol. 98:1995;1-11.
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Heyer, E.1
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9
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Kaplan NL, Hill WG, Weir BS. Likelihood methods for locating disease genes in nonequilibrium populations. Am J Hum Genet. 56:1995;18-32.
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Am J Hum Genet
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Kaplan, N.L.1
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Weir, B.S.3
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11
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0030078281
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Weiss KM. Is there a paradigm shift in human genetics? Lessons from the study of human diseases. Mol Phylogenet Evol. 5:1996;259-265.
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Weiss, K.M.1
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12
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0010323805
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Perspective: In search of human variation
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of special interest
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Weiss KM. Perspective: in search of human variation. of special interest Genome Res. 1998; In this report, Weiss compares the ways in which the SNP map being generated will benefit the gene mapping community and the anthropological genetics community. His opinions about the complexity of phenotypic variation and the importance of studying interpopulation genetic variation are clearly stated, together with his cautions about the political concerns and issues that are of paramount importance to the Human Genome Diversity Project, and future studies of human population genetic epidemiology.
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(1998)
Genome Res
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Weiss, K.M.1
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13
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0030087712
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The nature of quantitative genetic variation revisited: Lessons from Drosophila bristles
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Mackay TFC. The nature of quantitative genetic variation revisited: lessons from Drosophila bristles. BioEssays. 118:1996;113-121.
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BioEssays
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MacKay, T.F.C.1
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14
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0031026078
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Variable expressivity of patched mutations in flies and humans
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Bale AE. Variable expressivity of patched mutations in flies and humans. Am J Hum Genet. 60:1997;10-12.
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Am J Hum Genet
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Bale, A.E.1
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15
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0025190712
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Localizing mutliple X-linked retinitis pigmentosa loci using extended multi-locus homogeneity tests
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Ott J, Bhattacharya S, Chen JD, Denton MJ, Donald J, Dubay C, Farrar GJ, Felix JS, Fischman GA, Frey G, et al. Localizing mutliple X-linked retinitis pigmentosa loci using extended multi-locus homogeneity tests. Proc Natl Acad Sci USA. 87:1990;701-704.
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Ott, J.1
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Chen, J.D.3
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Donald, J.5
Dubay, C.6
Farrar, G.J.7
Felix, J.S.8
Fischman, G.A.9
Frey, G.10
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16
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0030946546
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Nonsyndromic hearing impairment: Unparalleled heterogeneity
-
of special interest. One example is discussed here where a relatively simple phenotype has a whole ton of heterogeneity, with many different mutations identified in many different genes - each causing a similar phenotype. This is very similar to the situation of retinitis pigmentosa. One can only wonder if the genetics of other complex phenotypes will involve as many different loci as those for these vision and hearing related phenotypes.
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van Camp G, Willems PJ, Smith RJH. Nonsyndromic hearing impairment: unparalleled heterogeneity. of special interest Am J Hum Genet. 60:1997;758-764 One example is discussed here where a relatively simple phenotype has a whole ton of heterogeneity, with many different mutations identified in many different genes - each causing a similar phenotype. This is very similar to the situation of retinitis pigmentosa. One can only wonder if the genetics of other complex phenotypes will involve as many different loci as those for these vision and hearing related phenotypes.
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(1997)
Am J Hum Genet
, vol.60
, pp. 758-764
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Van Camp, G.1
Willems, P.J.2
Smith, R.J.H.3
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17
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0024209791
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Admixture as a tool for finding linked genes and detecting that difference from allelic association between loci
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Chakraborty R, Weiss KM. Admixture as a tool for finding linked genes and detecting that difference from allelic association between loci. Proc Natl Acad Sci USA. 85:1988;9119-9123.
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(1988)
Proc Natl Acad Sci USA
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Chakraborty, R.1
Weiss, K.M.2
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18
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0031946381
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Mapping genes through the use of linkage disequilibrium generated by genetic drift: 'Drift mapping' in small populations with no demographic expansion
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of outstanding interest. This manuscript provides an intuitive review of the forces that create and destroy LD by analogy to haploid population genetics theory. Further simulations and theoretical analyses are presented to demonstrate the utility of LD mapping in small populations which have not expanded, and in which there will be substantial LD in the absence of shared haplotypes.
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Terwilliger JD, Zollner S, Laan M, Pääbo S. Mapping genes through the use of linkage disequilibrium generated by genetic drift: 'drift mapping' in small populations with no demographic expansion. of outstanding interest Hum Hered. 48:1998;138-154 This manuscript provides an intuitive review of the forces that create and destroy LD by analogy to haploid population genetics theory. Further simulations and theoretical analyses are presented to demonstrate the utility of LD mapping in small populations which have not expanded, and in which there will be substantial LD in the absence of shared haplotypes.
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(1998)
Hum Hered
, vol.48
, pp. 138-154
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Terwilliger, J.D.1
Zollner, S.2
Laan, M.3
Pääbo, S.4
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19
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0031019266
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Allelic disequilibrium and allele frequency distribution as a function of social and demographic history
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of outstanding interest. This paper presents an argument that the observed haplotype sharing data from diseases such as cystic fibrosis and hemochromatosis are consistent with neutral evolution. Furthermore, association mapping and population genetics are gradually merging back together, where they came from originally, and this paper provides a nice accessible interface between the active areas of research in both fields.
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Thompson EA, Neel JV. Allelic disequilibrium and allele frequency distribution as a function of social and demographic history. of outstanding interest Am J Hum Genet. 60:1997;197-204 This paper presents an argument that the observed haplotype sharing data from diseases such as cystic fibrosis and hemochromatosis are consistent with neutral evolution. Furthermore, association mapping and population genetics are gradually merging back together, where they came from originally, and this paper provides a nice accessible interface between the active areas of research in both fields.
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(1997)
Am J Hum Genet
, vol.60
, pp. 197-204
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Thompson, E.A.1
Neel, J.V.2
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20
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0030667521
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Demographic history and linkage disequilibrium in human populations
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of special interest. Empirical evidence is presented in this manuscript that there is substantially more LD in the Saami, a population which has been of stable size for many generation, than there is in the Finns, Swedes, or Estonians - populations which have undergone a rapid population expansion in recent history. This paper was the first to propose the idea that the LD generated by genetic drift could be used for gene mapping.
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Laan M, Pääbo S. Demographic history and linkage disequilibrium in human populations. of special interest Nat Genet. 17:1997;435-438 Empirical evidence is presented in this manuscript that there is substantially more LD in the Saami, a population which has been of stable size for many generation, than there is in the Finns, Swedes, or Estonians - populations which have undergone a rapid population expansion in recent history. This paper was the first to propose the idea that the LD generated by genetic drift could be used for gene mapping.
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(1997)
Nat Genet
, vol.17
, pp. 435-438
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Laan, M.1
Pääbo, S.2
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21
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0031025977
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Analysis of the phenylalanine hydroxylase gene in the Spanish population: Mutation profile and analysis with intragenic polymorphic markers
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Perez B, Desviat LR, Ugarte M. Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and analysis with intragenic polymorphic markers. Am J Hum Genet. 60:1997;95-102.
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(1997)
Am J Hum Genet
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Perez, B.1
Desviat, L.R.2
Ugarte, M.3
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22
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17344364213
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DNA sequence diversity in 19.7 kb region of the human lipoprotein lipase gene
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of special interest. This manuscript describes the amount of polymorphism and LD between polymorphisms within a small section of the lipoprotein lipase gene. The levels of LD are surprisingly low, and the levels of polymorphism, especially in coding sequence, may be higher than expected. It is an important paper to read before embarking on any large scale association screens, as it is one of the best documented studies in this very important embryonic area of research.
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Nickerson DA, Taylor SL, Weiss KM, Clark AG, Hutchinson RG, Stengard J, Salomaa V, Vartiainen E, Boerwinkle E, Sing CF. DNA sequence diversity in 19.7 kb region of the human lipoprotein lipase gene. of special interest Nat Genet. 19:1998;233-240 This manuscript describes the amount of polymorphism and LD between polymorphisms within a small section of the lipoprotein lipase gene. The levels of LD are surprisingly low, and the levels of polymorphism, especially in coding sequence, may be higher than expected. It is an important paper to read before embarking on any large scale association screens, as it is one of the best documented studies in this very important embryonic area of research.
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(1998)
Nat Genet
, vol.19
, pp. 233-240
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Nickerson, D.A.1
Taylor, S.L.2
Weiss, K.M.3
Clark, A.G.4
Hutchinson, R.G.5
Stengard, J.6
Salomaa, V.7
Vartiainen, E.8
Boerwinkle, E.9
Sing, C.F.10
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23
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0032231888
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Haplotype structure and population genetic inferences from nucleotide sequence variation in human lipoprotein lipase
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of special interest. of outstanding interest
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of special interest Clark AG, Weiss KM, Nickerson DA, Taylor SL, Buchanan A, Stengard J, Salomaa V, Vartiainen E, Perola M, Boerwinkle E, Sing CF. Haplotype structure and population genetic inferences from nucleotide sequence variation in human lipoprotein lipase. of outstanding interest Am J Hum Genet. 1998; This paper presents an analysis of the data from [22], focusing on the amount of LD exhibited between pairs of polymorphic loci in part of the human lipoprotein lipase gene. The authors also applied techniques of cladistic analysis to analyze the haplotype structure of the observed sequences across this small genomic region, and found an 'uninterpretable tangle of loops.' They went on to discuss the potential ramifications of these observations on association studies for complex human phenotypes.
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Am J Hum Genet
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Clark, A.G.1
Weiss, K.M.2
Nickerson, D.A.3
Taylor, S.L.4
Buchanan, A.5
Stengard, J.6
Salomaa, V.7
Vartiainen, E.8
Perola, M.9
Boerwinkle, E.10
Sing, C.F.11
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24
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0026759795
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Application of cladistics to the analysis of genotype-phenotype relationships
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Sing CF, Havilland MB, Zerba KE, Templeton AR. Application of cladistics to the analysis of genotype-phenotype relationships. Eur J Epidemiol. 8:1992;3-9. (suppl 1).
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Sing, C.F.1
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0029683026
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Cladistic approaches to identifying determinants of variability in multifactorial phenotypes and the evolutionary significance of variation in the human genome
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Templeton AR. Cladistic approaches to identifying determinants of variability in multifactorial phenotypes and the evolutionary significance of variation in the human genome. Ciba Found Symp. 197:1996;259-283.
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The estimation of the number and length distribution of gene conversion tracts from population DNA sequence data
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Bertran E, Rozas J, Navarro A, Barbadilla A. The estimation of the number and length distribution of gene conversion tracts from population DNA sequence data. Genetics. 146:1997;89-99.
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Bertran, E.1
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Burghes AHM. When is a deletion not a deletion? When is it converted? Am J Hum Genet. 61:1997;9-15.
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Campbell L, Potter A, Ignatius J, Dubowitz V, Davies K. Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am J Hum Genet. 61:1997;40-50.
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Campbell, L.1
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Dubowitz, V.4
Davies, K.5
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Evidence for gene conversion in the generation of extensive polymorphism in the promoter of the growth hormone gene
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Giordano M, Marchetti C, Chiorboli E, Bona G, Momigliano Richiardi P. Evidence for gene conversion in the generation of extensive polymorphism in the promoter of the growth hormone gene. Hum Genet. 100:1997;249-255.
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Ohta T. Role of gene conversion in generating polymorphisms at major histocompatibility complex loci. Hereditas. 127:1997;97-103.
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Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: Private and recurrent mutations in an isolated population
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Laiho E, Ignatius J, Mikkola H, Yee VC, Teller DC, Niemi K-M, Saarialho-Kere U, Kere J, Palotie A. Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. Am J Hum Genet. 61:1997;529-538.
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Laiho, E.1
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Mikkola, H.3
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Niemi K-M6
Saarialho-Kere, U.7
Kere, J.8
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34
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Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts to 19q13
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Pekkarinen P, Hovatta I, Hakola P, Jarvi O, Kestila M, Lenkkeri U, Adolfsson R, Holmgren G, Nylander PO, Tranebjaerg L, et al. Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts to 19q13. Am J Hum Genet. 62:1998;362-372.
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Pekkarinen, P.1
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Sing CF, Havilland MB, Reilly SL. Genetic architecture of common multifactorial diseases. Ciba Found Symp. 197:1996;211-232.
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Ciba Found Symp
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Sing, C.F.1
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Reilly, S.L.3
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0030869377
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What is significant in whole-genome linkage disequilibrium studies?
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of outstanding interest. In this paper, some major issues of interpretation of genome scans for LD are discussed and elucidated in the context of the conservative tradition of the often cited Lander and Kruglyak [55] paper regarding linkage analysis. This paper is important reading as it summarizes some of the difficulties and obstacles to gene mapping through the use of LD.
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Kruglyak L. What is significant in whole-genome linkage disequilibrium studies? of outstanding interest Am J Hum Genet. 61:1997;810-812 In this paper, some major issues of interpretation of genome scans for LD are discussed and elucidated in the context of the conservative tradition of the often cited Lander and Kruglyak [55] paper regarding linkage analysis. This paper is important reading as it summarizes some of the difficulties and obstacles to gene mapping through the use of LD.
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Am J Hum Genet
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Kruglyak, L.1
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37
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Fine-scale genetic mapping based on linkage disequilibrium: Theory and applications
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Xiong M, Guo S-W. Fine-scale genetic mapping based on linkage disequilibrium: theory and applications. Am J Hum Genet. 60:1997;1513-1531.
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Xiong, M.1
Guo S-W2
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38
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The molecular basis of partial penetrance of splicing mutations in cystic fibrosis
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Rave-Harel N, Kerem E, Nissim-Rafinia M, Madjar I, Goshen R, Augarten A, Rahat A, Hurwitz A, Darvasi A, Kerem B. The molecular basis of partial penetrance of splicing mutations in cystic fibrosis. Am J Hum Genet. 60:1997;87-94.
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Rave-Harel, N.1
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Nissim-Rafinia, M.3
Madjar, I.4
Goshen, R.5
Augarten, A.6
Rahat, A.7
Hurwitz, A.8
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Kerem, B.10
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Splice-site mutations: A novel genetic mechanism of Crigler-Najjar syndrome type 1
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Gantla S, Bakker CTM, Deocharan B, Thummala NR, Zweiner J, Sinaasappel M, Chowdhury JR, Bosma PJ, Chowdhury NR. Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1. Am J Hum Genet. 62:1998;585-592.
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Gantla, S.1
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Thummala, N.R.4
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Sinaasappel, M.6
Chowdhury, J.R.7
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40
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Bremner R, Du DC, Connolly-Wilson MJ, Bridge P, Farid-Ahmad K, Mostachfi H, Rushlow D, Dunn JM, Gallie BL. Deletion of RB exons 24 and 25 causes for penetrance retinoblastoma. Am J Hum Genet. 61:1997;556-570.
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Bremner, R.1
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D'Adamo P, Fassone L, Gedeon A, Janssen EAM, Bione S, Bolhuis PA, Barth PG, Wilson M, Haan E, Orstavik KH. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet. 61:1997;862-867.
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D'Adamo, P.1
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Barth, P.G.7
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Browne CE, Dennis NR, Maher E, Long FL, Nicholson C, Sillibourne J, Barber JCK. Inherited interstitial duplication of proximal 15q: genotype-phenotype correlations. Am J Hum Genet. 61:1997;1342-1352.
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Johnston J, Kelley RI, Feigenbaum A, Cox GF, Iyer GS, Funanage VL, Proujansky R. Mutation characterization and genotype-phenotype correlation in Barth syndrome. Am J Hum Genet. 61:1997;1053-1058.
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McKeigue PM. Mapping genes that underlie ethnic differences in disease risk: methods for detecting linkage in admixed populations, by conditioning on parental admixture. of special interest Am J Hum Genet. 63:1998;241-251 In this paper, McKeigue expands on some of the issues involved in admixture mapping. While this technique may be of limited utility in the real world as it presently stands, it may become more relevant and useful in the future, when we have more available data about the genetic and phenotypic differences between populations. On the plus side, it is one of the few approaches that is not theoretically dependent on allelic homogeneity in the disease locus.
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Hovatta, I.1
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93
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Trembath, R.C.1
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94
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0007525310
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Mapping of complex traits by single-nucleotide polymorphisms
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of special interest. Although it is unfortunate that the authors stress the issue of the diallelic single nucleotide polymorphisms in this manuscript, the general theory is a very useful means of combining linkage and association methods in a single statistical framework. This area of research will become more and more important with time, whether or not SNP markers become the markers of choice.
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Zhao LP, Aragaki C, Hsu L, Quiaoit F. Mapping of complex traits by single-nucleotide polymorphisms. of special interest Am J Hum Genet. 63:1998;225-240 Although it is unfortunate that the authors stress the issue of the diallelic single nucleotide polymorphisms in this manuscript, the general theory is a very useful means of combining linkage and association methods in a single statistical framework. This area of research will become more and more important with time, whether or not SNP markers become the markers of choice.
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Am J Hum Genet
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Zhao, L.P.1
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Hsu, L.3
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Camp NJ. Genomewide transmission/disequilibrium testing - consideration of the genotype relative risks at disease loci. Am J Hum Genet. 61:1997;1424-1430.
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96
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Algorithms and inferences: The challenge of multifactorial diseases
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of outstanding interest. In this paper, Elston's perspectives on the hot topics of the day are explained in a very clear and intuitive manner. While this paper focuses on linkage analysis in complex disease, it gets to the heart of some important philosophical issues about how to interpret the results of a linkage and by extension an association study from his own unique perspective.
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Elston RC. Algorithms and inferences: the challenge of multifactorial diseases. of outstanding interest Am J Hum Genet. 60:1997;255-262 In this paper, Elston's perspectives on the hot topics of the day are explained in a very clear and intuitive manner. While this paper focuses on linkage analysis in complex disease, it gets to the heart of some important philosophical issues about how to interpret the results of a linkage and by extension an association study from his own unique perspective.
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Am J Hum Genet
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Elston, R.C.1
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97
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Significance levels in complex inheritance
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of outstanding interest. In the field of human genetics, it would be irresponsible to highly recommend the treatises on interpretation of significance testing by Elston [96] and Kruglyak [36] and not to suggest just as strongly that one read Newton Morton's opinions on the subject. Especially in the area of association mapping, these insights are useful to understand in developing your own opinions about interpretation.
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Morton NE. Significance levels in complex inheritance. of outstanding interest Am J Hum Genet. 62:1998;690-697 In the field of human genetics, it would be irresponsible to highly recommend the treatises on interpretation of significance testing by Elston [96] and Kruglyak [36] and not to suggest just as strongly that one read Newton Morton's opinions on the subject. Especially in the area of association mapping, these insights are useful to understand in developing your own opinions about interpretation.
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Morton, N.E.1
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98
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0002985658
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Review of 'Statistical evidence: A likelihood paradigm' by Richard Royal
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of outstanding interest. This is an excellent review of an excellent book - it is strongly recommended that both the review and the book be read by anyone changed with interpreting results of an association study or linkage analysis. This review and book are further complements to the papers of Morton [97], Elston [96], and Kruglyak [36] listed above, and is highly recommend reading for everyone. Read them all and make your own interpretations.
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Vieland VJ, Hodge SE. Review of 'Statistical evidence: a likelihood paradigm' by Richard Royal. of outstanding interest Am J Hum Genet. 63:1998;283-288 This is an excellent review of an excellent book - it is strongly recommended that both the review and the book be read by anyone changed with interpreting results of an association study or linkage analysis. This review and book are further complements to the papers of Morton [97], Elston [96], and Kruglyak [36] listed above, and is highly recommend reading for everyone. Read them all and make your own interpretations.
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Am J Hum Genet
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Vieland, V.J.1
Hodge, S.E.2
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99
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The deletion/insertion polymorphism of the angiotensin converting enzyme gene and cardiovascular-renal risk
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Staessen JA, Wang JG, Ginocchio G, Petrov V, Saavedra AP, Soubrier F, Vlietnick R, Fagard R. The deletion/insertion polymorphism of the angiotensin converting enzyme gene and cardiovascular-renal risk. J Hypertens. 15:1997;1579-1592.
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Staessen, J.A.1
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Saavedra, A.P.5
Soubrier, F.6
Vlietnick, R.7
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100
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0030903121
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Optimal strategies for mapping complex diseases in the presence of multiple loci
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Goldgar DE, Easton DF. Optimal strategies for mapping complex diseases in the presence of multiple loci. Am J Hum Genet. 60:1997;1222-1232.
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101
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A new five-year plan for the US Human Genome Project
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Collins F, Galas D. A new five-year plan for the US Human Genome Project. Science. 262:1993;43-46.
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102
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Collins F, Guyer M, Chakravarti A. Variations on a theme: cataloging human DNA sequence variation. Science. 278:1997;1580-1581.
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Collins, F.1
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103
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16944362620
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Haplotype analysis of hemochromatosis: Evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes
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of outstanding interest. This paper discusses the evolution of the hemochromatosis locus, and evaluates a number of different statistical methods for detection of LD and its application to estimation of the map position of a disease gene. In the case, a disease is analyzed for which almost all disease alleles in the population are identical by descent from a common ancestor. Multi-locus methods are emphasized.
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Ajioka RS, Jorde LB, Gruen JR, Yu P, Dimitrova D, Barrow J, Radisky E, Edwards CO, Griffen LM, Kushner JP. Haplotype analysis of hemochromatosis: evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes. of outstanding interest Am J Genet. 60:1997;1439-1447 This paper discusses the evolution of the hemochromatosis locus, and evaluates a number of different statistical methods for detection of LD and its application to estimation of the map position of a disease gene. In the case, a disease is analyzed for which almost all disease alleles in the population are identical by descent from a common ancestor. Multi-locus methods are emphasized.
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Am J Genet
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Ajioka, R.S.1
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Gruen, J.R.3
Yu, P.4
Dimitrova, D.5
Barrow, J.6
Radisky, E.7
Edwards, C.O.8
Griffen, L.M.9
Kushner, J.P.10
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104
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0030752523
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Mapping using linkage-disequilibrium estimates: A comparative study
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of special interest. Another comparison of statistical methods for the analysis of LD for a somewhat more complex genetic disorder than hemochromatosis. In this study, single locus disequilibrium measures are emphasized in a specific applied example from an interesting population dataset.
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Allamand V, Beckmann JS. Mapping using linkage-disequilibrium estimates: a comparative study. of special interest Hum Hered. 47:1997;237-240 Another comparison of statistical methods for the analysis of LD for a somewhat more complex genetic disorder than hemochromatosis. In this study, single locus disequilibrium measures are emphasized in a specific applied example from an interesting population dataset.
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Beckmann, J.S.2
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105
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Most germ-line mutations in the nevoid basal cell carcinoma lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident
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Wicking C, Shanley S, Smyth I, Gillies S, Negus K, Graham S, Suthers G, Haites N, Edwards M, Wainwright B, et al. Most germ-line mutations in the nevoid basal cell carcinoma lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. Am J Hum Genet. 60:1997;21-26.
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Wicking, C.1
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106
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Identification of point mutations in 41 unrelated patients affected with Menkes disease
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Tumer Z, Lund C, Tolshave J, Vural B, Tonnesen T, Horn N. Identification of point mutations in 41 unrelated patients affected with Menkes disease. Am J Hum Genet. 60:1997;63-71.
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107
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Chamberlain ME, Ubagai T, Mudd SH, Levy HL, Chou JY. Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene. Am J Hum Genet. 60:1997;540-546.
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Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa
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Gatalica B, Pulkkinen L, Li K, Kuokkanen K, Ryynänen M, McGrath J, Uitto J. Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa. Am J Hum Genet. 60:1997;352-365.
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Friedman KJ, Leigh MW, Czarnecki P, Feldman GL. Cystic fibrosis transmembrane-conductance regulator mutations among African Americans. Am J Hum Genet. 62:1998;195-196.
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A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer diseases
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Tysoe C, Whittaker J, Xuereb J, Cairns NJ, Cruts M, van Broeckhoven C, Wilcock G, Rubinsztein DC. A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer diseases. Am J Hum Genet. 62:1998;70-76.
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Felbor U, Suvanto EA, Forsius HR, Eriksson AW, Weber BHF. Autosomal recessive Sorsby fundus dystrophy revisited: evidence for dominant inheritance. Am J Hum Genet. 60:1997;57-62.
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Mutations in the consensus helicase domains of the Warner's syndrome gene
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Yu C-E, Oshima J, Wijsman EM, Nakura J, Miki T, Piussan C, Matthews S, Fu Y-H, Mulligan J, Martin GM, Schellenberg GD. Mutations in the consensus helicase domains of the Warner's syndrome gene. Am J Hum Genet. 60:1997;330-341.
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Fu Y-H8
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113
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Identification of mutations in Cystatin B, the gene responsible for the Univerricht-Lundborg type of progressive myoclonus epilepsy (EPM1)
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Lailioti MD, Mirotsou M, Buresi C, Peitsch MC, Rossier C, Ouazzani R, Baldy-Moulinier M, Botanni A, Malafosse A, Antonarakis SE. Identification of mutations in Cystatin B, the gene responsible for the Univerricht-Lundborg type of progressive myoclonus epilepsy (EPM1). Am J Hum Genet. 60:1997;342-351.
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Lailioti, M.D.1
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Edwards SJ, Gladwin AJ, Dixon MJ. The mutational spectrum in Treacher-Collins syndrome reveals a predominance of mutations that create a premature-termination codon. Am J Hum Genet. 60:1997;515-524.
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De Paepe A, Nuylinck L, Haussier I, Anton-Lamprecht I, Naeyaert J-M. Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. Am J Hum Genet. 60:1997;547-554.
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Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets
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Holm IA, Huang X, Kunkel LM. Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. Am J Hum Genet. 60:1997;790-797.
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Akerman BR, Natowicz MR, Kaback MM, Loyer M, Campeau E, Gravel RA. Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease. Am J Hum Genet. 60:1997;1099-1106.
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Lin T, Orrison BM, Leahey A-M, Suchy SF, Bernard DJ, Lewis RA, Nussbaum RL. Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. Am J Hum Genet. 60:1997;1384-1388.
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Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach
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Peral B, Gamble V, Strong C, Ong ACM, Sloane-Stanley J, Zerres K, Winearls CG, Harris PC. Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach. Am J Hum Genet. 60:1997;1399-1410.
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The activin receptor-like kinase 1 gene: Genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2
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Berg JN, Gallione CJ, Stenzel TT, Johnson DW, Allen WP, Schwartz CE, Jackson CE, Porteous MEM, Marchuk DA. The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. Am J Hum Genet. 61:1997;60-67.
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Constitutively methylated CpG dinucleotides as mutation hot spots in the retinoblastoma gene (RB1)
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Mancini D, Singh S, Ainsworth P, Rodenheiser D. Constitutively methylated CpG dinucleotides as mutation hot spots in the retinoblastoma gene (RB1). Am J Hum Genet. 60:1997;80-87.
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Spectrum of mutations in the Batten disease gene (CLN3)
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Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany R-M, Lerner TJ, Taschner PEM, de Vos N, Breuning MH, et al. Spectrum of mutations in the Batten disease gene (CLN3). Am J Hum Genet. 61:1997;310-316.
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Identification and analysis of mutations in the Wilson disease gene (ATP7B): Population frequencies, genotype-phenotype correlation and functional analyses
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Shah AB, Chernov I, Zhang HT, Ross BM, Das K, Lutsenko S, Parano E, Pavone L, Evgrafov O, Ivanova-Smolenskaya IA, et al. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation and functional analyses. Am J Hum Genet. 61:1997;317-328.
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Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses
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Philippe C, Porter DE, Emerton ME, Wells DE, Hamish A, Simpson RW, Monaco AP. Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. Am J Hum Genet. 61:1997;520-528.
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Philippe, C.1
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A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)
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Veldhuisen B, Sans JJ, De Haij S, Hayashi T, Reynolds DM, Mochizuki T, Elles R, Fossdal R, Bogdanova N, van Dijk MA, et al. A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). Am J Hum Genet. 61:1997;547-555.
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Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa
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