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319 citation(s) found for "Ma, Audrey".

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers
Cox, David G. , Simard, Jacques , Sinnett, Daniel , Hamdi, Yosr , Soucy, Penny, Ouimet, Manon , Barjhoux, Laure, Verny-Pierre, Carole, McGuffog, Lesley , Healey, Sue, Greene, Mark H. , Mai, Phuong L., Andrulis, Irene L. , Network, Ontario Cancer Genetics, Thomassen, Mads , Gerdes, Anne‐Marie , Caligo, Maria A. , Friedman, Eitan , Laitman, Yael , Paluch, Shani Shimon, Borg, Åke , Karlsson, Per , Askmalm, Marie Stenmark, Bustinza, Gisela Barbany, Collaborators, SWE-BRCA, Nathanson, Katherine L. , Rebbeck, Timothy R., Hamann, Ute, Rookus, Matti A. , Ouweland, Ans M.W. van den, Ausems, Margreet G.E.M. , Aalfs, Cora M. , Gille, Hans J. J. P., HEBON, EMBRACE, Peock, Susan, Frost, Debra, Evans, D. Gareth , Eeles, Rosalind A. , Izatt, Louise , Adlard, Julian, Paterson, Joan, Eason, Jacqueline, Remon, Marie-Alice, Moncoutier, Virginie, Gauthier‐Villars, Marion , Lasset, Christine, Giraud, Sophie , Hardouin, Agnès, Berthet, Pascaline, Sobol, Hagay , Eisinger, François , Paillerets, Brigitte Bressac–de , Delnatte, Capucine, Collaborators, GEMO Study, Goldgar, David E., Miron, Alex, Özçelik, Hilmi, Southey, Melissa C. , Terry, Mary Beth , Registry, The Breast Cancer Family, Dressler, Anne-Catharina, Tea, Muy‐Kheng M., Hansen, Thomas van Overeem , Jóhannsson, Óskar Þór, Piedmonte, Marion, Rodriguez, Gustavo C. , Basil, Jack, Blank, Stephanie V. , Montagna, Marco , Blanco, Ignacio , Gayther, Simon A. , Moysich, Kirsten B., Schmutzler, Rita K., Wappenschmidt, Barbara , Engel, Christoph , Meindl, Alfons , Ditsch, Nina , Arnold, Norbert , Niederacher, Dieter , Sutter, Christian , Gadzicki, Dorothea, Fiebig, Britta, Caldes, Trinidad, Laframboise, Rachel , Nevanlinna, Heli , Chen, Xiaoqing, Spurdle, Amanda B. , Ding, Yuan Chun , Peterlongo, Paolo , Manoukian, Siranoush , Bernard, Loris, Radice, Paolo , Easton, Douglas F. , Chenevix‐Trench, Georgia , Antoniou, Antonis C. , Mazoyer, Sylvie, Sinilnikova, Olga M., Sinilnikova, Olga M., Dumont, Martine, Mai, Phuong , Greene, MH, Glendon, Gord, Selander, Teresa, Weerasooriya, Nayana , Karlsson, Per, Nordling, Margareta , Bergman, Annika, Einbeigi, Zakaria , Stenmark-Askmalm, Marie, Liedgren, S, Borg, Åke, Loman, Niklas, Olsson, Håkan , Kristoffersson, Ulf , Harbst, Katja , Henriksson, Karin, Lindblom, Annika , Arver, Brita, Wachenfeldt, Anna von , Liljegren, Annelie, Rantala, Johanna, Melin, Beatrice , Grönberg, Henrik , Stattin, Eva‐Lena , Emanuelsson, Monica, Ehrencrona, Hans , Seidel‐Renkert, Antje, Hogervorst, Frans B.L., Verhoef, S., Verheus, Martijn, Veer, Laura J. van’t , Leeuwen, Flora E. van , Rookus, M.A., Collée, Margriet , Ouweland, A.M.W. van den, Jager, Agnes , Hooning, Maartje J. , Tilanus‐Linthorst, Madeleine M.A., Seynaeve, Caroline, Asperen, C.J. van, Tollenaar, R.A., Devilee, P., Ligtenberg, M.J., Hoogerbrugge, Nicoline , Ausems, M.G., Aalfs, C.M., Os, T.A. van, Gille, J.J.P., Waisfisz, Quinten , Meijers‐Heijboer, Hanne , Gómez, E. , Roozendaal, Cees E. Van, Blok, Marinus J. , Caanen, BA, Oosterwijk, Jan C., Hout, Annemarie H. van der, Mourits, M J E , Vasen, Hans F. A. , Easton, Douglas F., Peock, Susan, Cook, Margaret, Frost, Debra, Platte, Radka, Miedzybrodzka, Zosia , Gregory, Helen , Jeffers, Lisa, Cole, T, Ong, Kai-Ren, Hoffman, Jonathan , Donaldson, Alan, James, Margaret, Paterson, Joan, Downing, Sarah, Murray, Alexandra, Rogers, Mark T., McCann, Emma, Kennedy, M. John, Barton, David , Porteous, Mary, Drummond, Sarah, Brewer, Carole, Kivuva, Emma , Searle, Anne, Goodman, Selina , Hill, Kathryn , Davidson, Rosemarie, Murday, Victoria, Bradshaw, Nicola, Snadden, Lesley, Longmuir, Mark, Watt, Catherine, Gibson, Sarah , Haque, Eshika, Tobias, Edward S. , Duncan, Alexis E. , Izatt, Louise, Jacobs, Chris , Langman, Caroline, Whaite, Anna , Barwell, Julian, Adlard, Julian, Chu, Carol , Miller, Julie, Ellis, Ian O. , Evans, D. Gareth, Lalloo, Fiona, Side, Lucy, Male, Alison , Berlin, Cheryl, Eason, Jacqueline , Collier, Rebecca, Douglas, Fiona, Claber, Oonagh, Jobson, Irene, Walker, Lisa, McLeod, Diane M., Halliday, Dorothy , Durell, Sarah, Stayner, Barbara, Eeles, Ros, Shanley, Susan, Rahman, Nazneen , Bancroft, Elizabeth, D'Mello, Lucia, Page, Elizabeth, Ardern‐Jones, Audrey, Castro, Elena , Robertson, Lisa , Bardsley, Cathryn, Hodgson, Shirley, Goff, Sheila, Brice, Glen , Winchester, Lizzie, Eddy, Charlotte, Tripathi, Vishakha , Attard, Virginia, Eccles, Diana , Lucassen, Anneke , Crawford, Gillian, McBride, Donna, Smalley, Sarah, Evans, D. Gareth, Lalloo, Fiona, Eeles, Ros, Bancroft, Elizabeth, D'Mello, Lucia, Sinilnikova, Olga, Sinilnikova, Olga, Giraud, Sophie, Léone, Mélanie, Mazoyer, Sylvie , Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Buecher, Bruno, Houdayer, Claude , Moncoutier, Virginie, Belotti, Muriel, Tirapo, Carole, Pauw, Antoine de, Bressac-de-Paillerets, Brigitte, Remenieras, Audrey, Byrde, Véronique, Lenoir, Gilbert, Bignon, Yves‐Jean , Uhrhammer, Nancy , Lasset, Christine, Bonadona, Valérie, Berthet, Pascaline, Bourdon, Violaine , Noguchi, Tetsuro, Eisinger, François, Coulet, Florence , Colas, Chrystelle , Soubrier, Florent , Coupier, Isabelle, Peyrat, Jean‐Philippe, Révillion, Françoise, Vennin, Philippe, Adenis, Claude, Rouleau, Étienne , Lidereau, Rosette, Demange, Liliane, Noguès, Catherine , Muller, Danièle, Fricker, Jean‐Pierre , Longy, Michel , Sevenet, Nicolas, Toulas, Christine , Guimbaud, Rosine, Gladieff, Laurence , Feillel, Viviane, Leroux, Dominique, Dreyfus, Hélène, Rebischung, Christine , Coron, Fanny, Faivre, Laurence, Prieur, Fabienne, Lebrun, Marine, Ferrer, Sandra Fert, Frénay, Marc, Venat‐Bouvet, Laurence , Delnatte, Capucine, Mortemousque, Isabelle, Lynch, Henry T., Snyder, Carrie, Ejlertsen, Bent, Andersen, Mette Klarskov , Kjaergaard, Susanne, Sweet, Kevin , O’Connor, Michelle , Ramus, Susan, Pye, Carole, Wozniak, Eva , Varon-Mateeva, Raymonda, Kast, Karin, Preisler‐Adams, Sabine, Deißler, Helmut , Schönbuchner, Ines, Heinritz, Wolfram, Schäfer, Dieter, Aittomäki, Kristiina , Erkkilä, R.N. Irja, Thorne, Heather , Niedermayr, Eveline, Perez-Segura, Pedro, Durocher, Francine , John, Esther M. , Adlard, Julian , Stenmark‐Askmalm, Marie , Faivre, Laurence , Szabo, Csilla I. , Mai, Phuong L., Network, Ontario Cancer Genetics, Kaufman, Bella , Collaborators, SWE-BRCA, Domchek, Susan M. , Benı́tez, Javier , Asperen, Christi J. van , Devilee, Peter , HEBON, EMBRACE, Peock, Susan, Frost, Debra, Adlard, Julian, Paterson, Joan, Eason, Jacqueline, Godwin, Andrew K. , Lasset, Christine , Berthet, Pascaline, Caron, Olivier , Collaborators, GEMO Study, Buys, Saundra S. , Registry, The Breast Cancer Family, Singer, Christian F. , Dressler, Anne Catharina, Toland, Amanda Ewart , Isaacs, Claudine , Meindl, Alfons , Caldes, Trinidad, Chen, Xiaoqing, Beesley, Jonathan , Neuhausen, Susan L. , Couch, Fergus J. , Wang, Xianshu , Stoppa‐Lyonnet, Dominique , Mazoyer, Sylvie, Sinilnikova, Olga M., Dumont, Martine , Karlsson, Per, Borg, Åke, Soller, Maria , Jernström, Helena , Barbany, Gisela , Torres, Diana , Rashid, Muhammad Usman , Rookus, M.A., Asperen, C.J. van, Wijnen, Juul , Vreeswijk, Maaike P.G. , Devilee, P., Ligtenberg, M.J., Ausems, M.G., Luijt, Rob B. van der , Aalfs, C.M., Os, T.A. van, Gille, J.J.P., Easton, Douglas F., Cook, Margaret, Morrison, Patrick J. , Cole, Trevor, James, Margaret, Taylor, Amy , McCann, Emma, Kennedy, M. John, Snadden, Lesley, Izatt, Louise, Dorkins, Huw , Barwell, Julian, Adlard, Julian, Houghton, Catherine E. , Evans, D. Gareth, Lalloo, Fiona, Taylor, Jane Elizabeth , Berlin, Cheryl, Eeles, Ros, Houlston, Richard S. , Bancroft, Elizabeth, D'Mello, Lucia, Kohut, Kelly , Wiggins, Jennifer M. , Mitra, Anita , Cook, Jackie A , Quarrell, Oliver , Crawford, Gillian, Evans, D. Gareth, Lalloo, Fiona, Eeles, Ros, Bancroft, Elizabeth, D'Mello, Lucia, Sinilnikova, Olga, Sinilnikova, Olga, Giraud, Sophie, Stoppa-Lyonnet, Dominique, Moncoutier, Virginie, Pauw, Antoine de, Bressac-de-Paillerets, Brigitte, Remenieras, Audrey, Lasset, Christine, Bonadona, Valérie, Eisinger, François, Pujol, Pascal , Fournier, Joëlle , Vennin, Philippe, Delnatte, Capucine, Ejlertsen, Bent , Kjærgaard, Susanne, Senter, Leigha , Craven, Caroline M. , Pharoah, Paul D.P. , Harrington, Patricia , Blomqvist, Carl , Heikkinen, Tuomas , Hoya, Miguel de la , Nevanlinna, H , Caligo, Maria A , Peterlongo, Paolo , Spurdle, Amanda B , Eccles, Diana , Moysich, Kirsten , Radice, Paolo , Adlard, Julian , Arnold, Norbert , Eeles, Rosalind A , Ehrencrona, Hans , Evans, D Gareth , John, Esther M , Southey, Melissa C , Nathanson, Katherine L , Engel, Christoph , Montagna, Marco , Simard, Jacques , Chenevix-Trench, Georgia , Faivre, Laurence , Gómez-García, Encarna B , Hansen, Thomas van Overeem , Manoukian, Siranoush , Terry, Mary Beth , Lindblom, Annika , Ellis, Ian

Human Molecular Genetics | September 3, 2011 | Volume: 20 | Issue: 23 | Pages: 4732-4747

10.1093/hmg/ddr388 | PMID 21890493 Get It

A family with parkinsonism, essential tremor, restless legs syndrome, and depression
Puschmann, Andreas , Pfeiffer, Ronald F. , Stoessl, A. Jon , Kuriakose, Renju, Lash, Jennifer, Searcy, J. A., Strongosky, Audrey , Vilariño‐Güell, Carles , Farrer, Matthew J. , Ross, Owen A. , Dickson, Dennis W. , Wszołek, Zbigniew K. , Dickson, Dennis W , Ross, Owen A , Puschmann, Andreas

Neurology | May 9, 2011 | Volume: 76 | Issue: 19 | Pages: 1623-1630

10.1212/wnl.0b013e318219fb42 | PMID 21555728 Get It

Should Clinicians Deliver Decision Aids? Further Exploration of the Statin Choice Randomized Trial Results
Jones, Lesley A., Weymiller, Audrey, Shah, Nilay D. , Bryant, Sandra C. , Christianson, Teresa J., Gafni, Amiram , Smith, Steven A., Montori, Víctor M. , Guyatt, Gordon , Montori, Victor M

Medical Decision Making | July 15, 2009 | Volume: 29 | Issue: 4 | Pages: 468-474

10.1177/0272989x09333120 | PMID 19605885 Get It

Background. Statin Choice is a decision aid about taking statins. The optimal mode of delivering Statin Choice (or any other decision aid) in clinical practice is unknown. Methods. To investigate the effect of mode of delivery on decision aid efficacy, the authors further explored the results of a concealed 2 × 2 factorial clustered randomized trial enrolling 21 endocrinologists and 98 diabetes patients and randomizing them to 1) receive either the decision aid or pamphlet about cholesterol, and 2) have these delivered either during the office visit (by the clinician) or before the visit (by a researcher). We estimated between-group differences and their 95% confidence intervals (CI) for acceptability of information delivery (1—7), knowledge about statins and coronary risk (0—9), and decisional conflict about statin use (0—100) assessed immediately after the visit. Follow-up was 99%. Results. The relative efficacy of the decision aid v. pamphlet interacted with the mode of delivery. Compared with the pamphlet, patients whose clinicians delivered the decision aid during the office visit showed significant improvements in knowledge (difference of 1.6 of 9 questions, CI 0.3, 2.8) and nonsignificant trends toward finding the decision aid more acceptable (odds ratio 3.1, CI 0.9, 11.2) and having less decisional conflict (difference of 7 of 100 points, CI - 4, 18) than when a researcher delivered the decision aid just before the office visit. Conclusions. Delivery of decision aids by clinicians during the visit improves knowledge and shows a trend toward better acceptability and less decisional conflict.
Progression of dopaminergic dysfunction in a LRRK2 kindred
Mak, Edwin, Schulzer, Michael, McKenzie, Jess, McCormick, Siobhan, Ruth, T.J., Strongosky, Audrey , Farrer, Matthew J. , Stoessl, A. Jon , Nandhagopal, Ramachandiran , Sossi, Vesna , Wszołek, Zbigniew K.

Neurology | November 24, 2008 | Volume: 71 | Issue: 22 | Pages: 1790-1795

10.1212/01.wnl.0000335973.66333.58 | PMID 19029519 Get It

Sinonasal melanoma: A clinicopathologic review of 61 cases
Dauer, Eileen H., Lewis, Jean E., Rohlinger, Audrey L., Weaver, Amy L. , Olsen, Kerry D.

Otolaryngology–Head and Neck Surgery | March 2, 2008 | Volume: 138 | Issue: 3 | Pages: 347-352

10.1016/j.otohns.2007.12.013 | PMID 18312883 Get It

OBJECTIVETo review the Mayo Clinic experience with sinonasal melanoma.STUDY DESIGNRetrospective review (case series).SUBJECTS AND METHODSWe identified 61 patients who had melanoma arising from the nasal cavity, paranasal sinuses, or both. All were treated at our institution from 1955 through 2003. Clinical and pathologic data were summarized, and survival curves were generated.RESULTSThe most common symptoms at presentation were epistaxis and nasal congestion. The most common treatment was excision only (48%). The cancer‐specific survival rate (ie, rate of death due to disease) was 48.9% and 22.1% at 3 and 5 years, respectively. Median time between diagnosis and death due to disease was 19 months.CONCLUSIONSinonasal melanoma is a rare but devastating disease. Wide local excision is the treatment of choice, and some patients may benefit from postoperative radiotherapy. Local recurrence and distant metastasis are common. Improved survival depends on better systemic therapies.
Urachal Anomalies: A Longitudinal Study of Urachal Remnants in Children and Adults
Ashley, Richard , Inman, Brant A. , Routh, Jonathan C. , Rohlinger, Audrey L., Husmann, Douglas A. , Kramer, Stephen A., Routh, Jonathan C , Inman, Brant A

Journal of Urology | August 18, 2007 | Volume: 178 | Issue: 4S | Pages: 1615-1618

10.1016/j.juro.2007.03.194 | PMID 17707039 Get It

Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of PDE11A Sequence Variants That Are Frequent in the Population
Giatzakis, Christoforos, Robinson‐White, Audrey, Boikos, Sosipatros A. , Levine, Elizabeth, Stein, Erica V. , Kamvissi, Virginia, Soni, Payal , Bossis, Ioannis , Herder, Wouter de, Carney, J. Aidan, Bertherat, Jérôme , Remmers, Elaine F. , Stratakis, Constantine A. , Horvath, Anélia , Griffin, Kurt , Gregersen, Peter K. , Stratakis, Constantine A

Cancer Research | December 18, 2006 | Volume: 66 | Issue: 24 | Pages: 11571-11575

10.1158/0008-5472.can-06-2914 | PMID 17178847 Get It

Abstract Several types of adrenocortical tumors that lead to Cushing syndrome may be caused by aberrant cyclic AMP (cAMP) signaling. We recently identified patients with micronodular adrenocortical hyperplasia who were carriers of inactivating mutations in the 2q-located phosphodiesterase 11A (PDE11A) gene. We now studied the frequency of two missense substitutions, R804H and R867G, in conserved regions of the enzyme in several sets of normal controls, including 745 individuals enrolled in a longitudinal cohort study, the New York Cancer Project. In the latter, we also screened for the presence of the previously identified PDE11A nonsense mutations. R804H and R867G were frequent among patients with adrenocortical tumors; although statistical significance was not reached, these variants affected significantly enzymatic function in vitro with variable increases in cAMP and/or cyclic guanosine 3′,5′-monophosphate levels in HeLa and HEK293 cells. Adrenocortical tissues carrying the R804H mutation showed 2q allelic losses and higher cyclic nucleotide levels and cAMP-responsive element binding protein phosphorylation. We conclude that missense mutations of the PDE11A gene that affect enzymatic activity in vitro are present in the general population; protein-truncating PDE11A mutations may also contribute to a predisposition to other tumors, in addition to their association with adrenocortical hyperplasia. We speculate that PDE11A genetic defects may be associated with adrenal pathology in a wider than previously suspected clinical spectrum that includes asymptomatic individuals. (Cancer Res 2006; 66(24): 11571-5)
Comparison of the Effects of Isoflurane and Thiopental on Neurologic Outcome and Neuropathology after Temporary Focal Cerebral Ischemia in Primates
Milde, Leslie Newberg, Milde, James H., Lanier, William L. , Michenfelder, John D., Gallagher, William J., Koenig, Richard T., Kroening, Audrey, Phelps, Leslie, WILSON, R.D.

Anesthesiology | October 9, 2006 | Volume: 69 | Issue: 6 | Pages: 905-913

10.1097/00000542-198812000-00017 | PMID 3195761 Get It

Diabetes Mellitus and Hypertension Associated With Shock Wave Lithotripsy of Renal and Proximal Ureteral Stones at 19 Years of Followup
Krambeck, Amy E. , Gettman, Matthew T., Rohlinger, Audrey L., Lohse, Christine M. , Patterson, David E., Segura, Joseph W.

Journal of Urology | April 6, 2006 | Volume: 175 | Issue: 5 | Pages: 1742-1747

10.1016/s0022-5347(05)00989-4 | PMID 16600747 Get It