The Experts below are selected from a list of 97155 Experts worldwide ranked by ideXlab platform
Kathleen C Barnes - One of the best experts on this subject based on the ideXlab platform.
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a graphical assessment of p values from sliding window haplotype tests of association to identify asthma susceptibility loci on Chromosome 11q
BMC Genetics, 2006Co-Authors: Rasika A. Mathias, Peisong Gao, Janet L. Goldstein, Alexander F. Wilson, Elizabeth W. Pugh, Georgia M. Dunston, Floyd J. Malveaux, Alkis Togias, Paulette Furbertharris, Kathleen C BarnesAbstract:Past work on asthmatic African American families revealed a strong linkage peak with modest evidence of association on Chromosome 11q. Here, we perform tests of association for asthma and a panel of 609 SNPs in African American subjects using a sliding window approach. While efficient in screening a region of dense genotyping, this approach does create some problems: high numbers of tests, assimilating thousands of results, and questions about setting priorities on regions with association signals. We present a newly developed tool, Graphical Assessment of Sliding P-values or GrASP, which uses color display to indicate the width of the sliding windows, significance of individual tests, density of SNP coverage and location of known genes that simplifies some of these issues, and use it to identify regions of interest in these data. We demonstrate that GrASP makes it easier to visualize, summarize and prioritize regions of interest from sliding window haplotype analysis, based jointly on the p-value from all the tests from these windows and the building of haplotypes of significance in the region. Using this approach, five regions yielded strong evidence for linkage and association with asthma, including the prior peak linkage region.
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A graphical assessment of p-values from sliding window haplotype tests of association to identify asthma susceptibility loci on Chromosome 11q.
BMC genetics, 2006Co-Authors: Rasika A. Mathias, Peisong Gao, Janet L. Goldstein, Alexander F. Wilson, Elizabeth W. Pugh, Paulette Furbert-harris, Georgia M. Dunston, Floyd J. Malveaux, Alkis Togias, Kathleen C BarnesAbstract:Background Past work on asthmatic African American families revealed a strong linkage peak with modest evidence of association on Chromosome 11q. Here, we perform tests of association for asthma and a panel of 609 SNPs in African American subjects using a sliding window approach. While efficient in screening a region of dense genotyping, this approach does create some problems: high numbers of tests, assimilating thousands of results, and questions about setting priorities on regions with association signals.
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A genome-wide search for allergic response (atopy) genes in three ethnic groups: Collaborative Study on the Genetics of Asthma
Human Genetics, 2004Co-Authors: Malcolm N. Blumenthal, Lucille Lester, Ethan Lange, Raoul Wolf, Kathleen C Barnes, Carl D Langefeld, Terri H. Beaty, Carole Ober, Eugene R Bleecker, Richard A KingAbstract:Atopy is an IgE-mediated condition known to aggregate in families and is a major risk factor for asthma. As part of the Collaborative Study on the Genetics of Asthma (CSGA), a genome-wide scan for atopy, defined by skin sensitivity to one or more common environmental allergens, was conducted in 287 CSGA families (115 African American, 138 Caucasian and 34 Hispanic). Using a nonparametric genetic analysis approach, two regions were observed in the sample of all families that yielded multipoint lod scores >1.5 (Chromosome 11q, lod=1.55 between D11S1986 and D11S1998; Chromosome 20p between D20S473 and D20S604, lod=1.54). Modeling that included multiple genomic positions simultaneously indicated that four chromosomal regions accounted for the majority of evidence for linkage in the combined families. These four regions are on Chromosomes 10p near D10S1412 (lod=0.94), 11q near D11S1986 (lod=1.76), 17q near D17S784 (lod=0.97) and 20p near D20S473 (lod=1.74). In the subset of pedigrees giving positive evidence for linkage on Chromosome 11q, the evidence for linkage increased by lod scores greater than one in four other chromosomal regions: 5q (D5S1480, lod=1.65), 8p (D8S1113, lod=1.60), 12p (D12S372, lod=1.54) and 14q (D14S749, lod=1.70). These results suggest that several regions may harbor genes contributing to the risk for atopy and these may interact with one another in a complex manner.
Dimitri J Stavropoulos - One of the best experts on this subject based on the ideXlab platform.
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periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the jacobsen syndrome region
American Journal of Medical Genetics Part A, 2014Co-Authors: Joyce So, Tracy L Stockley, Dimitri J StavropoulosAbstract:Jacobsen syndrome (JS) is a disorder of developmental delay, growth retardation, thrombocytopenia, dysmorphic features, and cardiac abnormalities, among other congenital anomalies. JS is caused by contiguous gene deletion in distal Chromosome 11q, generally varying in size from 7 to 20 Mb. Periventricular nodular heterotopia (PVNH) is a neuronal migration disorder in which neurons are abnormally located in nodules along the edges of the lateral ventricles. PVNH can also be seen with other congenital anomalies, including a recurrent association with distal limb defects. Transverse limb defects have previously been reported in two patients with JS. We report on a patient with a 3.162 Mb interstitial deletion at Chromosome region 11q24 overlapping the region commonly affected in JS. The patient had PVNH and a transverse limb reduction defect, with minimal typical findings of JS. This is the first report of PVNH associated with a microdeletion at Chromosome 11q and may represent an expansion of the phenotypic spectrum associated with JS. This is the third report of transverse limb reduction defects in association with JS, supporting a widening of the skeletal phenotypic spectrum in JS to include more severe limb anomalies. ETS1 is proposed as a candidate gene for involvement in limb anomalies in JS. © 2013 Wiley Periodicals, Inc.
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Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.
American journal of medical genetics. Part A, 2013Co-Authors: Tracy L Stockley, Dimitri J StavropoulosAbstract:Jacobsen syndrome (JS) is a disorder of developmental delay, growth retardation, thrombocytopenia, dysmorphic features, and cardiac abnormalities, among other congenital anomalies. JS is caused by contiguous gene deletion in distal Chromosome 11q, generally varying in size from 7 to 20 Mb. Periventricular nodular heterotopia (PVNH) is a neuronal migration disorder in which neurons are abnormally located in nodules along the edges of the lateral ventricles. PVNH can also be seen with other congenital anomalies, including a recurrent association with distal limb defects. Transverse limb defects have previously been reported in two patients with JS. We report on a patient with a 3.162 Mb interstitial deletion at Chromosome region 11q24 overlapping the region commonly affected in JS. The patient had PVNH and a transverse limb reduction defect, with minimal typical findings of JS. This is the first report of PVNH associated with a microdeletion at Chromosome 11q and may represent an expansion of the phenotypic spectrum associated with JS. This is the third report of transverse limb reduction defects in association with JS, supporting a widening of the skeletal phenotypic spectrum in JS to include more severe limb anomalies. ETS1 is proposed as a candidate gene for involvement in limb anomalies in JS.
Rasika A. Mathias - One of the best experts on this subject based on the ideXlab platform.
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A graphical assessment of p-values from sliding window haplotype tests of association to identify asthma susceptibility loci on Chromosome 11q.
BMC genetics, 2006Co-Authors: Rasika A. Mathias, Peisong Gao, Janet L. Goldstein, Alexander F. Wilson, Elizabeth W. Pugh, Paulette Furbert-harris, Georgia M. Dunston, Floyd J. Malveaux, Alkis Togias, Kathleen C BarnesAbstract:Background Past work on asthmatic African American families revealed a strong linkage peak with modest evidence of association on Chromosome 11q. Here, we perform tests of association for asthma and a panel of 609 SNPs in African American subjects using a sliding window approach. While efficient in screening a region of dense genotyping, this approach does create some problems: high numbers of tests, assimilating thousands of results, and questions about setting priorities on regions with association signals.
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a graphical assessment of p values from sliding window haplotype tests of association to identify asthma susceptibility loci on Chromosome 11q
BMC Genetics, 2006Co-Authors: Rasika A. Mathias, Peisong Gao, Janet L. Goldstein, Alexander F. Wilson, Elizabeth W. Pugh, Georgia M. Dunston, Floyd J. Malveaux, Alkis Togias, Paulette Furbertharris, Kathleen C BarnesAbstract:Past work on asthmatic African American families revealed a strong linkage peak with modest evidence of association on Chromosome 11q. Here, we perform tests of association for asthma and a panel of 609 SNPs in African American subjects using a sliding window approach. While efficient in screening a region of dense genotyping, this approach does create some problems: high numbers of tests, assimilating thousands of results, and questions about setting priorities on regions with association signals. We present a newly developed tool, Graphical Assessment of Sliding P-values or GrASP, which uses color display to indicate the width of the sliding windows, significance of individual tests, density of SNP coverage and location of known genes that simplifies some of these issues, and use it to identify regions of interest in these data. We demonstrate that GrASP makes it easier to visualize, summarize and prioritize regions of interest from sliding window haplotype analysis, based jointly on the p-value from all the tests from these windows and the building of haplotypes of significance in the region. Using this approach, five regions yielded strong evidence for linkage and association with asthma, including the prior peak linkage region.
Joyce So - One of the best experts on this subject based on the ideXlab platform.
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periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the jacobsen syndrome region
American Journal of Medical Genetics Part A, 2014Co-Authors: Joyce So, Tracy L Stockley, Dimitri J StavropoulosAbstract:Jacobsen syndrome (JS) is a disorder of developmental delay, growth retardation, thrombocytopenia, dysmorphic features, and cardiac abnormalities, among other congenital anomalies. JS is caused by contiguous gene deletion in distal Chromosome 11q, generally varying in size from 7 to 20 Mb. Periventricular nodular heterotopia (PVNH) is a neuronal migration disorder in which neurons are abnormally located in nodules along the edges of the lateral ventricles. PVNH can also be seen with other congenital anomalies, including a recurrent association with distal limb defects. Transverse limb defects have previously been reported in two patients with JS. We report on a patient with a 3.162 Mb interstitial deletion at Chromosome region 11q24 overlapping the region commonly affected in JS. The patient had PVNH and a transverse limb reduction defect, with minimal typical findings of JS. This is the first report of PVNH associated with a microdeletion at Chromosome 11q and may represent an expansion of the phenotypic spectrum associated with JS. This is the third report of transverse limb reduction defects in association with JS, supporting a widening of the skeletal phenotypic spectrum in JS to include more severe limb anomalies. ETS1 is proposed as a candidate gene for involvement in limb anomalies in JS. © 2013 Wiley Periodicals, Inc.
Tracy L Stockley - One of the best experts on this subject based on the ideXlab platform.
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periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the jacobsen syndrome region
American Journal of Medical Genetics Part A, 2014Co-Authors: Joyce So, Tracy L Stockley, Dimitri J StavropoulosAbstract:Jacobsen syndrome (JS) is a disorder of developmental delay, growth retardation, thrombocytopenia, dysmorphic features, and cardiac abnormalities, among other congenital anomalies. JS is caused by contiguous gene deletion in distal Chromosome 11q, generally varying in size from 7 to 20 Mb. Periventricular nodular heterotopia (PVNH) is a neuronal migration disorder in which neurons are abnormally located in nodules along the edges of the lateral ventricles. PVNH can also be seen with other congenital anomalies, including a recurrent association with distal limb defects. Transverse limb defects have previously been reported in two patients with JS. We report on a patient with a 3.162 Mb interstitial deletion at Chromosome region 11q24 overlapping the region commonly affected in JS. The patient had PVNH and a transverse limb reduction defect, with minimal typical findings of JS. This is the first report of PVNH associated with a microdeletion at Chromosome 11q and may represent an expansion of the phenotypic spectrum associated with JS. This is the third report of transverse limb reduction defects in association with JS, supporting a widening of the skeletal phenotypic spectrum in JS to include more severe limb anomalies. ETS1 is proposed as a candidate gene for involvement in limb anomalies in JS. © 2013 Wiley Periodicals, Inc.
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Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.
American journal of medical genetics. Part A, 2013Co-Authors: Tracy L Stockley, Dimitri J StavropoulosAbstract:Jacobsen syndrome (JS) is a disorder of developmental delay, growth retardation, thrombocytopenia, dysmorphic features, and cardiac abnormalities, among other congenital anomalies. JS is caused by contiguous gene deletion in distal Chromosome 11q, generally varying in size from 7 to 20 Mb. Periventricular nodular heterotopia (PVNH) is a neuronal migration disorder in which neurons are abnormally located in nodules along the edges of the lateral ventricles. PVNH can also be seen with other congenital anomalies, including a recurrent association with distal limb defects. Transverse limb defects have previously been reported in two patients with JS. We report on a patient with a 3.162 Mb interstitial deletion at Chromosome region 11q24 overlapping the region commonly affected in JS. The patient had PVNH and a transverse limb reduction defect, with minimal typical findings of JS. This is the first report of PVNH associated with a microdeletion at Chromosome 11q and may represent an expansion of the phenotypic spectrum associated with JS. This is the third report of transverse limb reduction defects in association with JS, supporting a widening of the skeletal phenotypic spectrum in JS to include more severe limb anomalies. ETS1 is proposed as a candidate gene for involvement in limb anomalies in JS.