Search Results - "STRAY, Sunday"

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing by Walsh, Tom, Casadei, Silvia, Lee, Ming K, Pennil, Christopher C, Nord, Alex S, Thornton, Anne M, Roeb, Wendy, Agnew, Kathy J, Stray, Sunday M, Wickramanayake, Anneka, Norquist, Barbara, Pennington, Kathryn P, Garcia, Rochelle L, King, Mary-Claire, Swisher, Elizabeth M

“…Inherited loss-of-function mutations in BRCA1 and BRCA2 and other tumor suppressor genes predispose to ovarian carcinomas, but the overall burden of disease…”
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Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing by Walsh, Tom, Lee, Ming K., Casadei, Silvia, Thornton, Anne M., Stray, Sunday M., Pennil, Christopher, Nord, Alex S., Mandell, Jessica B., Swisher, Elizabeth M., King, Mary-Claire

“…Inherited loss-of-function mutations in the tumor suppressor genes BRCA1, BRCA2, and multiple other genes predispose to high risks of breast and/or ovarian…”
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Contribution of Inherited Mutations in the BRCA2-Interacting Protein PALB2 to Familial Breast Cancer by CASADEI, Silvia, NORQUIST, Barbara M, WALSH, Tom, STRAY, Sunday, MANDELL, Jessica B, LEE, Ming K, STAMATOYANNOPOULOS, John A, KING, Mary-Claire

“…Inherited mutations in the BRCA2-interacting protein PALB2 are known to be associated with increased risks of developing breast cancer. To evaluate the…”
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Spectrum of Mutations in BRCA1, BRCA2, CHEK2, and TP53 in Families at High Risk of Breast Cancer by Walsh, Tom, Casadei, Silvia, Coats, Kathryn Hale, Swisher, Elizabeth, Stray, Sunday M, Higgins, Jake, Roach, Kevin C, Mandell, Jessica, Lee, Ming K, Ciernikova, Sona, Foretova, Lenka, Soucek, Pavel, King, Mary-Claire

“…CONTEXT Genetic testing for inherited mutations in BRCA1 and BRCA2 has become integral to the care of women with a severe family history of breast or ovarian…”
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Reduced transcript expression of genes affected by inherited and de novo CNVs in autism by NORD, Alex S, ROEB, Wendy, SEBAT, Jonathan, KING, Bryan, KING, Mary-Claire, MCCLELLAN, Jon M, DICKEL, Diane E, WALSH, Tom, KUSENDA, Mary, O'CONNOR, Kristen Lewis, MALHOTRA, Dheeraj, MCCARTHY, Shane E, STRAY, Sunday M, TAYLOR, Susan M

“…Individuals with autism are more likely to carry rare inherited and de novo copy number variants (CNVs). However, further research is needed to establish which…”
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Loss of function germline mutations in RAD51D in women with ovarian carcinoma by Wickramanyake, Anneka, Bernier, Greta, Pennil, Christopher, Casadei, Silvia, Agnew, Kathy J, Stray, Sunday M, Mandell, Jessica, Garcia, Rochelle L, Walsh, Tom, King, Mary-Claire, Swisher, Elizabeth M

“…Abstract Objective RAD51D , a gene in the Fanconi Anemia–BRCA homologous recombination pathway, has recently been shown to harbor germline mutations…”
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Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia by Walsh, Tom, McClellan, Jon M., McCarthy, Shane E., Addington, Anjené M., Pierce, Sarah B., Cooper, Greg M., Nord, Alex S., Kusenda, Mary, Malhotra, Dheeraj, Bhandari, Abhishek, Stray, Sunday M., Rippey, Caitlin F., Roccanova, Patricia, Makarov, Vlad, Lakshmi, B., Findling, Robert L., Sikich, Linmarie, Stromberg, Thomas, Merriman, Barry, Gogtay, Nitin, Butler, Philip, Eckstrand, Kristen, Noory, Laila, Gochman, Peter, Long, Robert, Chen, Zugen, Davis, Sean, Baker, Carl, Eichler, Evan E., Meltzer, Paul S., Nelson, Stanley F., Singleton, Andrew B., Lee, Ming K., Rapoport, Judith L., King, Mary-Claire, Sebat, Jonathan

“…Schizophrenia is a devastating neurodevelopmental disorder whose genetic influences remain elusive. We hypothesize that individually rare structural variants…”
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Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria by Pierce, Sarah B, Spurrell, Cailyn H, Mandell, Jessica B, Lee, Ming K, Zeligson, Sharon, Bereman, Michael S, Stray, Sunday M, Fokstuen, Siv, MacCoss, Michael J, Levy-Lahad, Ephrat, King, Mary-Claire, Motulsky, Arno G

“…Pentosuria is one of four conditions hypothesized by Archibald Garrod in 1908 to be inborn errors of metabolism. Mutations responsible for the other three…”
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Corrigendum to: Loss of function germline mutations in RAD51D in women with ovarian carcinoma [Gynecol Oncol 127: 552–555, 2012] by Wickramanayake, Anneka, Bernier, Greta, Pennil, Christopher, Casadei, Silvia, Agnew, Kathy J, Stray, Sunday M, Mandell, Jessica, Garcia, Rochelle L, Walsh, Tom, King, Mary-Claire, Swisher, Elizabeth M

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Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families by SHAHIN, Hashem, WALSH, Tom, STRAY, Sunday, GURWITZ, David, AVRAHAM, Karen B, KING, Mary-Claire, KANAAN, Moien, AMAL ABU RAYYAN, LEE, Ming K, HIGGINS, Jake, DICKEL, Diane, LEWIS, Kristen, THOMPSON, James, BAKER, Carl, NORD, Alex S

“…In communities with high rates of consanguinity and consequently high prevalence of recessive phenotypes, homozygosity mapping with SNP arrays is an effective…”
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Idiopathic hemochromatosis, an interim report by Milder, M S, Cook, J D, Stray, S, Finch, C A

“…Experience over the last 20 years with 34 patients with idiopathic hemochromatosis is summarized and the literature is reviewed. Methods are now available…”
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CONTRIBUTION TO FAMILIAL BREAST CANCER OF INHERITED MUTATIONS IN THE BRCA2-INTERACTING PROTEIN PALB2 by Casadei, Silvia, Norquist, Barbara M., Walsh, Tom, Stray, Sunday, Mandell, Jessica B., Lee, Ming K., Stamatoyannopoulos, John A., King, Mary-Claire

“…Inherited mutations in the BRCA2-interacting protein PALB2 are known to be associated with increased risks of breast cancer. In order to evaluate the…”
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Mutations in Families at High Risk for Breast Cancer—Reply

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Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer: Women's health by WALSH, Tom, CASADEI, Silvia, FORETOVA, Lenka, SOUCEK, Pavel, KING, Mary-Claire, COATS, Kathryn Hale, SWISHER, Elizabeth, STRAY, Sunday M, HIGGINS, Jake, ROACH, Kevin C, MANDELL, Jessica, LEE, Ming K, CIERNIKOVA, Sona

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Human Platelet Glycoprotein V: Its Role in Enhancing Expression of the Glycoprotein Ib Receptor by Calverley, David C., Yagi, Mayumi, Stray, Sunday M., Roth, Gerald J.

“…Platelet adhesion to an injured blood vessel wall is a critical initiating step in hemostasis mediated by a four member receptor complex (glycoprotein Ib/V/IX)…”
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Plasma Ferritin Determination as a Diagnostic Tool by Finch, Clement A., Stray, Sunday, Huebers, Helmut A., Bellotti, Vittorio, Lipschitz, David A., Cook, James D., Pippard, Martin J.

“…Plasma ferritin is a secretory component of intracellular ferritin synthesis. In normal persons its amount reflects the size of iron stores. A decrease to less…”
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Iron supply for erythropoiesis in the rabbit by CELADA, A, STRAY, S, SIVARAJAN, M, FINCH, C

“…Marrow radioiron uptake and marrow blood flow were measured in order to evaluate iron supply for erythropoiesis. Normal, phenylhydrazine-treated and bled…”
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Simple assay for urinary iron after desferrioxamine therapy by Pippard, M J, Stray, S

“…A simple method for measuring urinary iron following the administration of desferrioxamine (DF) is described. Ferrioxamine iron is reduced by a reagent…”
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The Relationship Between Plasma Iron and Plasma Iron Turnover in the Rat by Bauer, Werner, Stray, Sunday, Huebers, Helmut, Finch, Clement

“…Plasma iron turnover has been evaluated in the growing rat. Consistent data were obtained with the intravenous injection of radioiron in the form of ferrous…”
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Ferrokinetic measurement of erythropoiesis by Beguin, Y, Stray, S M, Cazzola, M, Huebers, H A, Finch, C A

“…Ferrokinetic measurements have proved useful because of the dominant role of the erythron in tissue iron uptake. Detailed measurements of the plasma iron…”
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