Search Results - "Jorde, L."

Genetic Similarities Within and Between Human Populations by Witherspoon, D. J, Wooding, S, Rogers, A. R, Marchani, E. E, Watkins, W. S, Batzer, M. A, Jorde, L. B

“…The proportion of human genetic variation due to differences between populations is modest, and individuals from different populations can be genetically more…”
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Linkage disequilibrium and the search for complex disease genes by Jorde, L B

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Adaptive genetic changes related to haemoglobin concentration in native high‐altitude Tibetans by Simonson, T. S., Huff, C. D., Witherspoon, D. J., Prchal, J. T., Jorde, L. B.

“…New Findings What is the topic of this review? Tibetans have genetic adaptations that are hypothesized to underlie the distinct set of traits they exhibit at…”
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Pharmacogenomics of 17‐alpha hydroxyprogesterone caproate for recurrent preterm birth: a case–control study by Manuck, TA, Watkins, WS, Esplin, MS, Biggio, J, Bukowski, R, Parry, S, Zhan, H, Huang, H, Andrews, W, Saade, G, Sadovsky, Y, Reddy, UM, Ilekis, J, Yandell, M, Varner, MW, Jorde, LB

“…Objective To compare maternal genotypes between women with and without significant prolongation of pregnancy in the setting of 17‐alpha hydroxyprogesterone…”
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The Distribution of Human Genetic Diversity: A Comparison of Mitochondrial, Autosomal, and Y-Chromosome Data by Jorde, L.B., Watkins, W.S., Bamshad, M.J., Dixon, M.E., Ricker, C.E., Seielstad, M.T., Batzer, M.A.

“…We report a comparison of worldwide genetic variation among 255 individuals by using autosomal, mitochondrial, and Y-chromosome polymorphisms. Variation is…”
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Linkage disequilibrium as a gene-mapping tool by Jorde, L B

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Combined variants in factor VIII and prostaglandin synthase‐1 amplify hemorrhage severity across three generations of descendants by Nance, D., Campbell, R. A., Rowley, J. W., Downie, J. M., Jorde, L. B., Kahr, W. H., Mereby, S. A., Tolley, N. D., Zimmerman, G. A., Weyrich, A. S., Rondina, M. T.

“…Essentials Co‐existent damaging variants are likely to cause more severe bleeding and may go undiagnosed. We determined pathogenic variants in a…”
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Population genomics : a bridge from evolutionary history to genetic medicine by JORDE, L. B, WATKINS, W. S, BAMSHAD, M. J

“…Studies of human genetic variation are making contributions in several key areas. Evolutionary genetic studies yield critical clues about the histories of…”
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Genetic Traces of Ancient Demography by Harpending, Henry C., Batzer, Mark A., Gurven, Michael, Jorde, Lynn B., Rogers, Alan R., Sherry, Stephen T.

“…Patterns of gene differences among humans contain information about the demographic history of our species. Haploid loci like mitochondrial DNA and the…”
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Patterns of Ancestral Human Diversity: An Analysis of Alu-Insertion and Restriction-Site Polymorphisms by Watkins, W.S., Ricker, C.E., Bamshad, M.J., Carroll, M.L., Nguyen, S.V., Batzer, M.A., Harpending, H.C., Rogers, A.R., Jorde, L.B.

“…We have analyzed 35 widely distributed, polymorphic Alu loci in 715 individuals from 31 world populations. The average frequency of Alu insertions (the derived…”
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Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome by Bamshad, Michael, Lin, Robert C, Law, David J, Watkins, W. Scott, Krakowiak, Patrycja A, Moore, Mary E, Franceschini, Piergiorgio, Lala, Roberto, Holmes, Lewis B, Gebuhr, Tom C, Bruneau, Benoit G, Schinzel, Albert, Seidman, J. G, Seidman, Christine E, Jorde, Lynn B

“…Ulnar-mammary syndrome is a rare pleiotropic disorder affecting limb, apocrine gland, tooth and genital development. We demonstrate that mutations in human…”
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DNA Sequence Variation in a 3.7-kb Noncoding Sequence 5′ of the CYP1A2 Gene: Implications for Human Population History and Natural Selection by Wooding, S.P., Watkins, W.S., Bamshad, M.J., Dunn, D.M., Weiss, R.B., Jorde, L.B.

“…CYP1A2 is a cytochrome P450 gene that is involved in human physiological responses to a variety of drugs and toxins. To investigate the role of population…”
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The Spectrum of Mutations in TBX3: Genotype/Phenotype Relationship in Ulnar-Mammary Syndrome by Bamshad, M., Le, T., Watkins, W.S., Dixon, M.E., Kramer, B.E., Roeder, A.D., Carey, J.C., Root, S., Schinzel, A., Van Maldergem, L., Gardner, R.J.M., Lin, R.C., Seidman, C.E., Seidman, J.G., Wallerstein, R., Moran, E., Sutphen, R., Campbell, C.E., Jorde, L.B.

“…Ulnar-mammary syndrome (UMS) is a pleiotropic disorder affecting limb, apocrine-gland, tooth, hair, and genital development. Mutations that disrupt the…”
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Global patterns of human DNA sequence variation in a 10-kb region on chromosome 1 by Yu, N, Zhao, Z, Fu, Y X, Sambuughin, N, Ramsay, M, Jenkins, T, Leskinen, E, Patthy, L, Jorde, L B, Kuromori, T, Li, W H

“…Human DNA variation is currently a subject of intense research because of its importance for studying human origins, evolution, and demographic history and for…”
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Clinical and Biochemical Abnormalities in People Heterozygous for Hemochromatosis by Bulaj, Zaneta J, Griffen, Linda M, Jorde, Lynn B, Edwards, Corwin Q, Kushner, James P

“…Hemochromatosis is transmitted as an autosomal recessive trait. 1 , 2 The responsible gene is tightly linked to the HLA class I region on chromosome 6, and a…”
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Origins and affinities of modern humans : a comparison of mitochondrial and nuclear genetic data by JORDE, L. B, BAMSHAD, M. J, WATKINS, W. S, ZENGER, R, FRALEY, A. E, KRAKOWIAK, P. A, CARPENTER, K. D, SOODYALL, H, JENKINS, T, ROGERS, A. R

“…To test hypotheses about the origin of modern humans, we analyzed mtDNA sequences, 30 nuclear restriction-site polymorphisms (RSPs), and 30 tetranucleotide…”
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Estimates of nuclear DNA content in 98 species of brown algae (Phaeophyta) by Phillips, Naomi, Kapraun, Donald F., Gómez Garreta, Amelia, Ribera Siguan, M. Antonia, Rull, Jorde L., Salvador Soler, Noemi, Lewis, Raymond, Kawai, Hiroshi

“…Despite the fact that brown algae are critical components of marine ecosystems around the world only one species has had its genome sequenced. To facilitate…”
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Human Population Genetic Structure and Inference of Group Membership by Bamshad, Michael J., Wooding, Stephen, Watkins, W. Scott, Ostler, Christopher T., Batzer, Mark A., Jorde, Lynn B.

“…A major goal of biomedical research is to develop the capability to provide highly personalized health care. To do so, it is necessary to understand the…”
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Evidence for natural selection in the HAVCR1 gene: high degree of amino-acid variability in the mucin domain of human HAVCR1 protein by Nakajima, T, Wooding, S, Satta, Y, Jinnai, N, Goto, S, Hayasaka, I, Saitou, N, Guan-Jun, J, Tokunaga, K, Jorde, L B, Emi, M, Inoue, I

“…The family of genes encoding T-cell immunoglobulin and mucin-domain containing proteins (Tim), which are cell-surface molecules expressed in CD4(+) T helper…”
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Crohn's Disease and Genetic Hitchhiking at IBD5 by Huff, Chad D., Witherspoon, David J., Zhang, Yuhua, Gatenbee, Chandler, Denson, Lee A., Kugathasan, Subra, Hakonarson, Hakon, Whiting, April, Davis, Chadwick T., Wu, Wilfred, Xing, Jinchuan, Watkins, W. Scott, Bamshad, Michael J., Bradfield, Jonathan P., Bulayeva, Kazima, Simonson, Tatum S., Jorde, Lynn B., Guthery, Stephen L.

“…Inflammatory bowel disease 5 (IBD5) is a 250 kb haplotype on chromosome 5 that is associated with an increased risk of Crohn's disease in Europeans. The OCTN1…”
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