Search Results - "Spielman, R S"

Candidate Gene Region for Polycystic Ovary Syndrome on Chromosome 19p13.2 by Urbanek, M., Woodroffe, A., Ewens, K. G., Diamanti-Kandarakis, E., Legro, R. S., Strauss, J. F., Dunaif, A., Spielman, R. S.

“…Context: Polycystic ovary syndrome (PCOS) is a common endocrine disorder that is believed to have a genetic basis. However, no specific susceptibility gene or…”
Get full text

The TDT and other family-based tests for linkage disequilibrium and association by SPIELMAN, R. S, EWENS, W. J

Get full text

A Sibship Test for Linkage in the Presence of Association: The Sib Transmission/Disequilibrium Test by Spielman, Richard S., Ewens, Warren J.

“…Linkage analysis with genetic markers has been successful in the localization of genes for many monogenic human diseases. In studies of complex diseases,…”
Get full text

A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2 by Concannon, P, Yamagata, K, Bell, G.I, Ogata, M, Wang, Y.-Q, Ellsworth, D.L, Hanis, C.L, Stirling, B, Hinds, D, Lim, L.R, Spielman, R.S, Lindner, T, Chakraborty, R, Chen, X, Rietzsch, H, Boriraj, V.V, Cox, N.J, Wapelhorst, B, Omori, Y, Mereu, L.E, Iwasaki, N, Risch, N, Boerwinkle, E, Yang, Y, Shephard, J.M, Williams, S.R, Menzel, S, Schröder, H.-E, Gogolin-Ewens, K.J, Morrison, V.A, Xiang, K, Petzold, C, Schulze, J

“…Non-insulin-dependent (type 2) diabetes mellitus (NIDDM) is a common disorder of middle-aged individuals characterized by high blood glucose levels which, if…”
Get full text

The transmission/disequilibrium test : history, subdivision, and admixture by EWENS, W. J, SPIELMAN, R. S

“…Disease association with a genetic marker is often taken as a preliminary indication of linkage with disease susceptibility. However, population subdivision…”
Get full text

Transmission test for linkage disequilibrium : the insulin gene region and insulin-dependent diabetes mellitus (IDDM) by SPIELMAN, R. S, MCGINNIS, R. E, EWENS, W. J

“…A population association has consistently been observed between insulin-dependent diabetes mellitus (IDDM) and the "class 1" alleles of the region of…”
Get full text

A second-generation screen of the human genome for susceptibility to insulin-dependent diabetes mellitus by Mitra, Mirna, Farmer, Jennifer, Morrison, V. Annem, Stirling, Brigid, Spielman, Richard S, Risch, Neil, Cox, Nancy J, Wapelhorst, Beth, Gogolin-Ewens, Kathryn J, Williams, Sloan R, Hinds, David A, Bell, Graeme I, Concannon, Patrick

“…During the past decade, the genetics of type 1 (insulin-dependent) diabetes mellitus (IDDM) has been studied extensively and the disorder has become a paradigm…”
Get full text

Gene for Non-Insulin-Dependent Diabetes Mellitus (Maturity-Onset Diabetes of the Young Subtype) is Linked to DNA Polymorphism on Human Chromosome 20q by Bell, Graeme I., Xiang, Kun-san, Newman, Marsha V., Wu, Song-hua, Wright, Lawrence G., Fajans, Stefan S., Spielman, Richard S., Cox, Nancy J.

“…Maturity-onset diabetes of the young (MODY) is a form of non-insulin-dependent diabetes mellitus characterized by an early age of onset, usually before 25…”
Get full text

Fine Mapping of Genetic Susceptibility to Polycystic Ovary Syndrome on Chromosome 19p13.2 and Tests for Regulatory Activity by Stewart, D. R., Dombroski, B. A., Urbanek, M., Ankener, W., Ewens, K. G., Wood, J. R., Legro, R. S., Strauss, J. F., Dunaif, A., Spielman, R. S.

“…Context: Little is known about genes that contribute to polycystic ovary syndrome (PCOS). We previously found linkage and association of PCOS with the…”
Get full text

Natural variation in human gene expression assessed in lymphoblastoid cells by Cheung, Vivian G, Conlin, Laura K, Weber, Teresa M, Arcaro, Melissa, Jen, Kuang-Yu, Morley, Michael, Spielman, Richard S

“…The sequencing of the human genome has resulted in greater attention to genetic variation among individuals, and variation at the DNA sequence level is now…”
Get full text

The genetics of variation in gene expression by Cheung, Vivian G, Spielman, Richard S

“…The genetic basis of variation in gene expression lends itself to investigation by microarrays. For genetic analysis, we view the expression level of a gene as…”
Get full text

Genetics of quantitative variation in human gene expression by Cheung, V G, Jen, K Y, Weber, T, Morley, M, Devlin, J L, Ewens, K G, Spielman, R S

Get full text

Linkage-disequilibrium mapping without genotyping by Cheung, Vivian G, Gregg, Jeffrey P, Gogolin-Ewens, Kathryn J, Bandong, Jonathan, Stanley, Charles A, Baker, Lester, Higgins, Michael J, Nowak, Norma J, Shows, Thomas B, Ewens, Warren J, Nelson, Stanley F, Spielman, Richard S

“…Genomic mismatch scanning (GMS) is a technique that enriches for regions of identity by descent (IBD) between two individuals without the need for genotyping…”
Get full text

Insulin gene 5' flanking polymorphism. Length of class 1 alleles in number of repeat units by McGinnis, R. E., Spielman, R. S.

“…Insulin gene 5' flanking polymorphism. Length of class 1 alleles in number of repeat units. R E McGinnis and R S Spielman Department of Genetics, University of…”
Get full text

Thirty-Seven Candidate Genes for Polycystic Ovary Syndrome: Strongest Evidence for Linkage Is with Follistatin by Urbanek, Margrit, Legro, Richard S., Driscoll, Deborah A., Azziz, Ricardo, Ehrmann, David A., Norman, Robert J., Strauss, Jerome F., Spielman, Richard S., Dunaif, Andrea

“…Polycystic ovary syndrome (PCOS) is a common endocrine disorder of women, characterized by hyperandrogenism and chronic anovulation. It is a leading cause of…”
Get full text

Seven Regions of the Genome Show Evidence of Linkage to Type 1 Diabetes in a Consensus Analysis of 767 Multiplex Families by Cox, Nancy J., Wapelhorst, Beth, Morrison, V. Anne, Johnson, Lindsey, Pinchuk, Lesya, Spielman, Richard S., Todd, John A., Concannon, Patrick

“…Type 1 diabetes (T1D) is a genetically complex disorder of glucose homeostasis that results from the autoimmune destruction of the insulin-secreting cells of…”
Get full text

Feasibility of the high Tc superconducting bolometer by RICHARDS, P. L, CLARKE, J, LEONI, R, LERCH, P, VERGHESE, S, BEASLEY, M. R, GEBALLE, T. H, HAMMOND, R. H, ROSENTHAL, P, SPIELMAN, S. R

Get full text

Linkage studies in NIDDM with markers near the sulphonylurea receptor gene by STIRLING, B, COX, N. J, BELL, G. I, HANIS, C. L, SPIELMAN, R. S, CONCANNON, P

“…The high affinity receptor for sulphonylureas, expressed on the beta cells of the pancreas, plays a crucial role in the control of insulin secretion. Mutations…”
Get full text

The transmission/disequilibrium test detects cosegregation and linkage by Spielman, R S, McGinnis, R E, Ewens, W J

“…In a recent paper we described a test of linkage between a disease and a marker locus, to be used when when there is a population association between the two…”
Get full text

Genetic Polymorphism for Human Platelet Thermostable Phenol Sulfotransferase (TS PST) Activity by Price, R. A, Spielman, R. S, Lucena, A. L, Van-Loon, J. A, Maidak, B. L, Weinshilboum, R. M

“…Platelet TS PST basal activity and thermal stability were measured in blood samples from 237 individuals in 50 nuclear families. Significant correlations were…”
Get full text