Search Results - "RUBINSTEIN, W. S"

Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas by Baysal, B E, Willett-Brozick, J E, Lawrence, E C, Drovdlic, C M, Savul, S A, McLeod, D R, Yee, H A, Brackmann, D E, Slattery, W H, Myers, E N, Ferrell, R E, Rubinstein, W S

“…Background: Paragangliomas are rare and highly heritable tumours of neuroectodermal origin that often develop in the head and neck region. Germline mutations…”
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Mutations in SDHD, A Mitochondrial Complex II Gene, in Hereditary Paraganglioma by Baysal, Bora E., Ferrell, Robert E., Willett-Brozick, Joan E., Lawrence, Elizabeth C., Myssiorek, David, Bosch, Anne, van der Mey, Andel, Peter E. M. Taschner, Rubinstein, Wendy S., Myers, Eugene N., Richard, Charles W., Cornelisse, Cees J., Devilee, Peter, Devlin, B.

“…Hereditary paraganglioma (PGL) is characterized by the development of benign, vascularized tumors in the head and neck. The most common tumor site is the…”
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TGFBR16A and Cancer Risk: A Meta-Analysis of Seven Case-Control Studies by Kaklamani, Virginia G, Hou, Nanjiang, Bian, Yiansong, Reich, Jennifer, Offit, Kenneth, Michel, Loren S, Rubinstein, W S, Rademaker, Alfred, Pasche, Boris

“…TGFBR1*6A is a hypomorphic polymorphic allele of the type I transforming growth factor beta receptor (TGFBR1). TGFBR1*6A is a candidate tumor susceptibility…”
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Effect of Preventive Messages Tailored to Family History on Health Behaviors: The Family Healthware Impact Trial by Ruffin, Mack T., MD, MPH, Nease, Donald E., MD, Sen, Ananda, PhD, Pace, Wilson D., MD, Wang, Catharine, PhD, MSc, Acheson, Louise S., MD, MS, Rubinstein, Wendy S., MD, PhD, O'Neill, Suzanne, MA, MS, PhD, Gramling, Robert, MD, DSc

“…Abstract Purpose We wanted to determine the impact of automated family history assessment and tailored messages for coronary heart disease, stroke, diabetes,…”
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Transplantation of human hepatocytes by Strom, S C, Fisher, R A, Rubinstein, W S, Barranger, J A, Towbin, R B, Charron, M, Mieles, L, Pisarov, L A, Dorko, K, Thompson, M T, Reyes, J

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Prophylactic Mastectomy: Obstacles and Benefits by Lynch, Henry T., Lynch, Jane F., Rubinstein, Wendy S.

“…Onlytime will tell!REFERENCES(1) Hartmann LC, Sellers TA, Schaid DJ, Frank TS, Soderberg CL, Sitta DL,et al. Efficacyof bilateral prophylactic mastectomyin…”
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Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23 by BAYSAL, B. E, FARR, J. E, MYSSIOREK, D, SINGH, D, SAHA, S, GOLLIN, S. M, EVANS, G. A, JAMES, M. R, RICHARD, C. W, RUBINSTEIN, W. S, GALUS, R. A, JOHNSON, K. A, ASTON, C. E, MYERS, E. N, JOHNSON, J. T, CARRAU, R, KIRKPATRICK, S. J

“…Hereditary nonchromaffin paragangliomas (PGL; glomus tumors; MIM 168000) are mostly benign, slow-growing tumors of the head and neck region, inherited from…”
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Repositioning the hereditary paraganglioma critical region on chromosome band 11q23 by BAYSAL, B. E, VAN SCHOTHORST, E. M, RICHARD, C. W, FARR, J. E, GRASHOF, P, MYSSIOREK, D, RUBINSTEIN, W. S, TASCHNER, P, CORNELISSE, C. J, DEVLIN, B, DEVILEE, P

“…Hereditary paragangliomas (PGL, glomus tumors, MIM no.168000) are mostly benign, slow-growing tumors of the head and neck region. The gene (or genes) affecting…”
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Computer-Based Genetic Counseling by Rubinstein, Wendy S

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Use of an educational computer program before genetic counseling for breast cancer susceptibility: Effects on duration and content of counseling sessions by Green, Michael J., Peterson, Susan K., Baker, Maria Wagner, Friedman, Lois C., Harper, Gregory R., Rubinstein, Wendy S., Peters, June A., Mauger, David T.

“…Patients seeking genetic testing for inherited breast cancer risk are typically educated by genetic counselors; however, the growing demand for cancer genetic…”
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Phenotypic dichotomy in mitochondrial complex II genetic disorders by BAYSAL, Bora E, RUBINSTEIN, Wendy S, TASCHNER, Peter E. M

“…This review presents our current knowledge on the genetic and phenotypic aspects of mitochondrial complex II gene defects. The mutations of the complex II…”
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Proportion of Heritable Paraganglioma Cases and Associated Clinical Characteristics by Drovdlic, Carrie M., Myers, Eugene N., Peters, June A., Baysal, Bora E., Brackmann, Derald E., Slattery III, William H., Rubinstein, Wendy S.

“…Objective/Hypothesis To determine the heritable proportion of paraganglioma (PGL) and identify clinical features associated with heritable PGL. Study Design…”
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Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting by Kalman, LV, Agúndez, JAG, Appell, M Lindqvist, Black, JL, Bell, GC, Boukouvala, S, Bruckner, C, Bruford, E, Caudle, K, Coulthard, SA, Daly, AK, Tredici, AL Del, den Dunnen, JT, Drozda, K, Everts, RE, Flockhart, D, Freimuth, RR, Gaedigk, A, Hachad, H, Hartshorne, T, Ingelman-Sundberg, M, Klein, TE, Lauschke, VM, Maglott, DR, McLeod, HL, McMillin, GA, Meyer, UA, Müller, DJ, Nickerson, DA, Oetting, WS, Pacanowski, M, Pratt, VM, Relling, MV, Roberts, A, Rubinstein, WS, Sangkuhl, K, Schwab, M, Scott, SA, Sim, SC, Thirumaran, RK, Toji, LH, Tyndale, RF, van Schaik, RHN, Whirl-Carrillo, M, Yeo, KTJ, Zanger, UM

“…This article provides nomenclature recommendations developed by an international workgroup to increase transparency and standardization of pharmacogenetic…”
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Advances in counselling and surveillance of patients at risk for pancreatic cancer by Brand, Randall E, Lerch, Markus M, Rubinstein, Wendy S, Neoptolemos, John P, Whitcomb, David C, Hruban, Ralph H, Brentnall, Teresa A, Lynch, Henry T, Canto, Marcia I

“…Even with significant advances in imaging and our understanding of pancreatic cancer genetics, the survival rates for pancreatic cancer remain quite dismal…”
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Genetics and the multidisciplinary breast center by Peters, J A, Rubinstein, W S

“…The cancer genetics consultation and comprehensive breast centers logically go hand in hand. Breast surgeons may be interacting for the first time with a…”
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Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study by Mitra, Anita V., Bancroft, Elizabeth K., Barbachano, Yolanda, Page, Elizabeth C., Foster, C. S., Jameson, C., Mitchell, G., Lindeman, G. J., Stapleton, A., Suthers, G., Evans, D. G., Cruger, D., Blanco, I., Mercer, C., Kirk, J., Maehle, L., Hodgson, S., Walker, L., Izatt, L., Douglas, F., Tucker, K., Dorkins, H., Clowes, V., Male, A., Donaldson, A., Brewer, C., Doherty, R., Bulman, B., Osther, P. J., Salinas, M., Eccles, D., Axcrona, K., Jobson, I., Newcombe, B., Cybulski, C., Rubinstein, W. S., Buys, S., Townshend, S., Friedman, E., Domchek, S., Ramon y Cajal, T., Spigelman, A., Teo, S. H., Nicolai, N., Aaronson, N., Ardern‐Jones, A., Bangma, C., Dearnaley, D., Eyfjord, J., Falconer, A., Grönberg, H., Hamdy, F., Johannsson, O., Khoo, V., Kote‐Jarai, Z., Lilja, H., Lubinski, J., Melia, J., Moynihan, C., Peock, S., Rennert, G., Schröder, F., Sibley, P., Suri, M., Wilson, P., Bignon, Y. J., Strom, S., Tischkowitz, M., Liljegren, A., Ilencikova, D., Abele, A., Kyriacou, K., van Asperen, C., Kiemeney, L., Easton, D. F., Eeles, Rosalind A.

“…Study Type – Diagnostic (validating cohort)
Level of Evidence 1b What’s known on the subject? and What does the study add? Scientists have found a number of…”
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Cost-effectiveness of population-based BRCA1/2 testing and ovarian cancer prevention for Ashkenazi Jews: A call for dialogue by Rubinstein, Wendy S, Jiang, Hongmei, Dellefave, Lisa, Rademaker, Alfred W

“…Purpose: About half of unaffected BRCA1/2 carriers have a negative family history, confounding efforts toward presymptomatic carrier identification. Ovarian…”
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Family history and perceptions about risk and prevention for chronic diseases in primary care: A report from the Family Healthware™ Impact Trial by Acheson, Louise S., Wang, Catharine, Zyzanski, Stephen J., Lynn, Audrey, Ruffin, Mack T., Gramling, Robert, Rubinstein, Wendy S., O'Neill, Suzanne M., Nease, Donald E.

“…To determine whether family medical history as a risk factor for six common diseases is related to patients' perceptions of risk, worry, and control over…”
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Interstitial lung disease in an adult with Fanconi anemia: Clues to the pathogenesis by Rubinstein, Wendy S., Wenger, Sharon L., Hoffman, Robert M., Auerbach, Arleen D., Mulvihill, John J.

“…We have studied a 38‐year‐old man with a prior diagnosis of Holt‐Oram syndrome, who presented with diabetes mellitus. He had recently taken prednisone for…”
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Clinical utility of family history for cancer screening and referral in primary care: A report from the Family Health ware Impact Trial by Rubinstein, W S, Acheson, L S, O'Neill, S M, Ruffin, MT IV, Wang, C, Beaumont, J L, Rothrock, N

“…Purpose: To assess the effectiveness of computerized familial risk assessment and tailored messages for identifying individuals for targeted cancer prevention…”
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