7 results on '"Simon, L."'
Search Results
2. Colaboradores
- Author
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Abrams, Charles S., Accurso, Frank J., Adler, Ronald S., Akin, Cem, Aksamit, Allen J., Jr., Al-Awqati, Qais, Allos, Ban Mishu, Altshuler, David, Aminoff, Michael, Anderson, Jeffrey L., Anderson, Larry J., Antony, Aśok C., Appel, Gerald B., Appelbaum, Frederick R., Apte, Suneel S., Armitage, James O., Arnaout, M. Amin, Arnold, Robert M., Atkins, David, Atkinson, John P., Bacon, Bruce R., Baddour, Larry M., Bagby, Grover C., Bain, Barbara J., Bajorin, Dean F., Baloh, Robert W., Barasch, Jonathan, Barbano, Richard L., Barrett-Connor, Elizabeth, Bartholomew, John R., Barton, Mary, Basner, Robert C., Baum, Stephen G., Bausch, Daniel G., Bayer, Arnold S., Bazari, Hasan, Beigel, John H., Beller, George A., Bennett, Robert M., Berger, Joseph R., Berk, Paul D., Berliner, Nancy, Bernat, James L., Bierman, Philip J., Bishop, Michael R., Bistrian, Bruce R., Biundo, Joseph J., Black, Adrian R., Blanke, Charles D., Blankson, Joel N., Blaser, Martin J., Blattner, William A., Bleck, Thomas P., Block, Joel A., Blom, Henk, Bodamer, Olaf A., Boden, William E., Bolognia, Jean, Bonomo, Robert A., Borish, Larry, Bosque, Patrick J., Brenner, David J., Brook, Itzhak, Brunetti, Enrico, Buchner, David M., Buffet, Pierre A., Bunn, H. Franklin, Bushinsky, David A., Bykerk, Vivian P., Calabresi, Peter A., Calfee, David P., Cameron, Douglas, Camilleri, Michael, Cannon, Grant W., Cappellini, Maria Domenica, Carabello, Blase A., Carvalho, Edgar M., Catherino, William H., Cauley, Jane A., Chalasani, Naga P., Chambers, Henry F., Cheshire, William P., Jr., Cho, Ilseung, Chockalingam, Arun, Christiani, David C., Chu, David H., Cieslak, Theodore J., Clancy, Carolyn, Clemmons, David R., Cohen, David, Cohen, Jeffrey, Cohen, Myron S., Cohen, Steven P., Cohn, Steven L., Colebunders, Robert, Connors, Joseph M., Cook, Deborah J., Cowan, Kenneth H., Craft, Joseph, Crandall, Jill Patricia, Croft, Simon L., Crothers, Kristina, Crow, Mary K., Crump, John A., Cullen, Mark R., Cunningham-Rundles, Charlotte, Damon, Inger K., Daniels, Troy E., Davidson, Nancy E., DeAngelis, Lisa M., DeCamp, Malcolm M., del Rio, Carlos, Deuster, Patricia A., Diasio, Robert B., Diemert, David J., Digre, Kathleen B., Doroshow, James H., Douglas, John M., Jr., Drazen, Jeffrey M., Dreskin, Stephen C., Drew, W. Lawrence, Drusano, George L., DuBose, Thomas D., Jr., Duffy, F. Daniel, DuPont, Herbert L., Duvic, Madeleine, Edwards, Kathryn M., Edwards, N. Lawrence, Einhorn, Lawrence H., Elin, Ronald J., Eliopoulos, George M., Elliott, Perry, Ellner, Jerrold J., Elston, Dirk M., Emanuel, Ezekiel J., Ernst, Joel D., Everson, Gregory T., Evoli, Amelia, Faigel, Douglas O., Falagas, Matthew E., Falk, Gary W., Feder, Gene, Feller-Kopman, David J., Firestein, Gary S., Fishman, Glenn I., Fleisher, Lee A., Flint, Paul W., Fogel, Evan L., Ford, Marsha D., Forsmark, Chris E., Fowler, Vance G., Jr., Franco, Manuel A., Freedman, David O., French, Martyn A., Freund, Karen, Gabay, Cem, Gage, Kenneth L., Galgiani, John N., Gallagher, Patrick G., Ganz, Leonard, Garan, Hasan, Garcia-Tsao, Guadalupe, Geisler, William M., George, Tony P., Gepstein, Lior, Gerber, Susan I., Gerding, Dale N., Gertz, Morie A., Ginder, Gordon D., Ginsberg, Jeffrey S., Ginsburg, Geoffrey S., Glogauer, Michael, Gnann, John W., Jr., Golden, Matthew R., Goldman, Lee, Goldstein, Larry B., Goodnough, Lawrence T., Gotuzzo, Eduardo H., Grady, Deborah, Grammer, Leslie C., Greco, F. Anthony, Greenberg, Harry B., Greenberg, Steven A., Griggs, Robert C., Grinberg, Lev M., Grossman, Daniel, Guay-Woodford, Lisa M., Guerrant, Richard L., Gulick, Roy M., Hagspiel, Klaus D., Hainsworth, John D., Hamsten, Anders, Hande, Kenneth R., Handsfield, H. Hunter, Hansson, Göran K., Harris, Raymond C., Hauser, Stephen Crane, Hayden, Frederick G., Heimburger, Douglas C., Hewlett, Erik L., Hift, Richard J., Hill, David R., Hill, Nicholas S., Hillis, L. David, Hirsh, Jack, Holland, Steven M., Hollenberg, Steven M., Hook, Edward W., III, Hunter, David J., Hussain, Khalid, Hyman, Steven E., Iannuzzi, Michael C., Inman, Robert D., Inouye, Sharon K., Isbister, Geoffrey K., Ison, Michael G., Jabbour, Elias, Jaff, Michael R., Jen, Joanna C., Jensen, Dennis M., Jensen, Michael D., Jensen, Robert T., Johnson, Stuart, Jordan, Richard C., Józefowicz, Ralph F., Kaler, Stephen G., Kamya, Moses R., Kao, Louise W., Kaplan, Steven A., Kastner, Daniel L., Kathiresan, Sekar, Katzka, David A., Katzman, Debra K., Kauffman, Carol A., Kaushansky, Kenneth, Kaye, Keith S., Keating, Armand, Kelley, Robin K., Kern, Morton, Keusch, Gerald T., Khuri, Fadlo R., Kim, David H., Kim, Matthew, Kirchhoff, Louis V., Knopman, David S., Knox, Tamsin A., Kontoyiannis, D.P., Koppel, Barbara S., Korenblat, Kevin M., Korf, Bruce R., Korman, Neil J., Kortepeter, Mark G., Kovacs, Joseph A., Kovacs, Thomas O., Kraft, Monica, Kramer, Christopher M., Krasnewich, Donna M., Krause, Peter J., Kuemmerle, John F., Kuipers, Ernst J., Ladenson, Paul W., Laheru, Daniel, Landry, Donald W., Lang, Anthony E., Lange, Richard A., Lederle, Frank A., Lee, Thomas H., Lee, William M., Leggett, James E., Levin, Stuart, Levine, Stephanie M., Lichtenstein, Gary R., Lim, Henry W., Lima, Aldo A.M., Ling, Geoffrey S.F., Little, William C., Lloyd-Jones, Donald M., Lorber, Bennett, Low, Donald E., Lucey, Daniel R., Lupski, James R., Lyness, Jeffrey M., Lytle, Bruce W., MacKenzie, C. Ronald, MacMillan, Harriet L., Madoff, Robert D., Maldarelli, Frank, Malhotra, Atul, Manary, Mark J., Mancini, Donna, Mandell, Lionel A., Manu, Peter, Marelli, Ariane, Mariette, Xavier, Marks, Andrew R., Marr, Kieren A., Marrie, Thomas J., Martin, Paul, Mason, Joel B., Masur, Henry, Matteson, Eric L., Matthay, Michael A., Maurer, Toby A., Mayer, Emeran A., Mayer, Stephan A., McClave, Stephen A., McCool, F. Dennis, McCulloch, Charles E., McKenna, William J., McLaughlin, Vallerie, McMurray, John J.V., McQuaid, Kenneth R., Michel, Marc, Mink, Jonathan W., Mitch, William E., Molitch, Mark E., Molitoris, Bruce A., Montoya, Jose G., Morris, Alison, Moy, Ernest, Muehlenbachs, Atis, Murr, Andrew H., Musher, Daniel M., Myerburg, Robert J., Nagamani, Sandesh C.S., Naides, Stanley J., Naka, Yoshifumi, Nash, Theodore E., Nath, Avindra, Neilson, Eric G., Neinstein, Lawrence S., Nelson, Lewis S., Nestler, Eric J., Newman, Anne B., Newman, Thomas B., Nichols, William L., Nicolle, Lindsay E., Nieman, Lynnette K., Niewoehner, Dennis E., Norrby, S. Ragnar, O’Brien, Susan, O’Connor, Christopher M., O’Connor, Francis G., O’Connor, Patrick G., O’Dell, James R., O’Donnell, Anne E., Oh, Jae K., Olgin, Jeffrey E., Orenstein, Walter A., Osmon, Douglas R., Otto, Catherine M., Papania, Mark, Pappas, Peter G., Pasricha, Pankaj Jay, Paterson, David L., Patrono, Carlo, Pawlotsky, Jean-Michel, Pearson, Richard D., Perl, Trish M., Perlman, Adam, Petri, William A., Jr., Pfeffer, Marc A., Pickhardt, Perry J., Pisetsky, David S., Posner, Marshall R., Powell, Frank, Pyeritz, Reed E., Quinn, Thomas C., Radhakrishnan, Jai, Rafailidis, Petros I., Raghu, Ganesh, Ragni, Margaret, Raja, Srinivasa N., Rajkumar, S. Vincent, Ralston, Stuart H., Raoult, Didier, Rebar, Robert W., Reboli, Annette C., Reddy, K. Rajender, Redelmeier, Donald A., Reef, Susan E., Resnick, Neil M., Reuben, David B., Rivers, Emanuel P., Rogers, Joseph G., Rolain, Jean-Marc, Romero, José R., Rosene-Montella, Karen, Rosenthal, Philip J., Rothenberg, Marc E., Russell, James A., Rustgi, Anil K., Rusyniak, Daniel E., Salata, Robert A., Salmon, Jane E., Salvana, Edsel Maurice T., Santos, Renato M., Sawka, Michael N., Scanlon, Paul D., Scanzello, Carla, Schafer, Andrew I., Schaffner, William, Scheld, W. Michael, Schiff, Manuel, Schilsky, Michael L., Schooley, Robert T., Schriger, David L., Schroeder, Steven A., Schuchter, Lynn M., Schulman, Sam, Schwartz, Lawrence B., Seas, Carlos, Seifert, Steven A., Seifter, Julian L., Selcen, Duygu, Semenkovich, Clay F., Semrad, Carol E., Shamoon, Harry, Shaw, James C., Shaw, Pamela J., Sheridan, Robert L., Sherman, Stuart, Shy, Michael E., Sidransky, Ellen, Siegel, Richard M., Siliciano, Robert F., Simberkoff, Michael S., Simel, David L., Singh, Kamaljit, Skorecki, Karl, Slotki, Itzchak, Slutsky, Arthur S., Small, Eric J., Smetana, Gerald W., Southwick, Frederick S., Spiegel, Allen M., Spiera, Robert F., Spinola, Stanley M., Spriggs, David, Stankiewicz, Paweł, Stark, Paul, Steensma, David P., Steinberg, Martin H., Steiner, Theodore S., Stephens, David S., Stevens, David A., Stoller, James K., Stone, John H., Stone, Richard M., Strikas, Raymond A., Su, Edwin P., Sutter, Roland W., Swerdloff, Ronald S., Swygard, Heidi, Sykes, Megan, Tanofsky-Kraff, Marian, Tarlo, Susan M., Taylor, Victoria M., Tefferi, Ayalew, Teirstein, Paul S., Telford, Sam R., III, Thakker, Rajesh V., Tosti, Antonella, Trehan, Indi, Turner, Ronald B., Uldrick, Thomas S., Valeri, Anthony M., Varga, John, Vaughn, Bradley V., Venook, Alan P., Verbalis, Joseph G., Victor, Ronald G., Vincent, Angela, Wachter, Robert M., Wagner, Edward H., Walsh, Edward E., Walsh, Thomas J., Walston, Jeremy D., Wang, Christina, Wanke, Christine, Wasserman, Stephen I., Weber, Thomas J., Weinberg, Geoffrey A., Weinstein, David A., Weinstein, Robert S., Weiss, Roger D., Weisse, Martin, Weitz, Jeffrey I., Wells, Samuel A., Jr., Wenzel, Richard P., Werth, Victoria P., West, Sterling G., White, A. Clinton, Jr., White, Christopher J., White, Perrin C., Whitley, Richard J., Whyte, Michael P., Wiebe, Samuel, Wiener-Kronish, Jeanine P., Wijdicks, Eelco F.M., Wilber, David J., Winikoff, Beverly, Wormser, Gary P., Yanoff, Myron, Yarchoan, Robert, Young, Neal S., Young, William F., Jr., Yu, Alan S.L., Zaki, Sherif R., Zeidel, Mark L., Ziegler, Thomas R., and Zimetbaum, Peter
- Published
- 2017
- Full Text
- View/download PDF
3. 348 - Leishmaniose
- Author
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Croft, Simon L. and Buffet, Pierre A.
- Published
- 2017
- Full Text
- View/download PDF
4. Colaboradores
- Author
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Abrams, Charles S., Accurso, Frank J., Afdhal, Nezam H., Akin, Cem, Aksamit, Allen J., Jr., Al-Awqati, Qais, Allos, Ban Mishu, Altshuler, David, Aminoff, Michael J., Anderson, Jeffrey L., Anderson, Karl E., Anderson, Larry J., Antman, Karen H., Antony, Aśok C., Appel, Gerald B., Appelbaum, Frederick R., Arend, William P., Arguin, Paul, Armitage, James O., Armstrong, Cheryl A., Arnaout, M. Amin, Arnold, Robert, Atkins, David, Atkinson, William L., Ausiello, Dennis, Bacon, Bruce R., Bagby, Grover C., Bain, Barbara J., Bajorin, Dean F., Ballow, Mark, Baloh, Robert W., Barasch, Jonathan, Barbano, Richard L., Baron, Murray G., Barrett-Connor, Elizabeth, Barry, Michael J., Barshop, Bruce A., Bartlett, John G., Barton, Mary, Basner, Robert C., Baum, Stephen G., Bausch, Daniel G., Bayer, Arnold S., Bazari, Hasan, Beigel, John H., Beller, George A., Bennett, Robert M., Berger, Joseph R., Berk, Paul, Berliner, Nancy, Bernat, James L., Bierman, Philip J., Bistrian, Bruce R., Biundo, Joseph J., Blanke, Charles D., Blankson, Joel N., Blaser, Martin J., Blattner, William A., Bleck, Thomas P., Boden, William E., Boland, C. Richard, Bolognia, Jean, Bonomo, Robert, Borish, Larry, Bosque, Patrick J., Brand, Randall, Brook, Itzhak, Brunetti, Enrico, Buchner, David M., Buffet, Pierre A., Bunn, H. Franklin, Calabresi, Peter A., Calfee, David P., Calkins, Hugh, Cameron, Douglas, Camilleri, Michael, Cannon, Grant W., Cappellini, Maria Domenica, Carabello, Blase A., Carvalho, Edgar M., Castellanos, Agustin, Chalasani, Naga P., Chambers, Henry, Charlson, Mary, Cheshire, William P., Jr., Chinnery, Patrick F., Christiani, David C., Clemmons, David R., Cohen, Jeffrey, Cohen, Myron S., Cohen, Steven P., Cohn, Steven L., Colebunders, Robert, Connors, Joseph M., Cook, Deborah J., Corey, C. Ralph, Cowan, Kenneth H., Craig, William A., Croft, Simon L., Crow, Mary K., Crump, John A., Cullen, Mark R., Curhan, Gary C., Damon, Inger K., Daniels, Troy E., Davidson, Nancy, DeAngelis, Lisa M., DeCamp, Malcolm M., Del Rio, Carlos, Demetri, George D., Demling, Robert H., Deuster, Patricia A., Diasio, Robert B., Diemert, David J., Digre, Kathleen B., Douglas, John M., Jr., and Drazen, Jeffrey M.
- Published
- 2014
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5. Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study.
- Author
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Mattos BP, Scolari FL, Torres MA, Simon L, Freitas VC, Giugliani R, and Matte Ú
- Subjects
- Adult, Brazil, Cross-Sectional Studies, DNA Mutational Analysis methods, Death, Sudden, Cardiac, Female, Humans, Hypertrophy, Left Ventricular genetics, Male, Middle Aged, Phenotype, Sarcomeres genetics, Severity of Illness Index, Statistics, Nonparametric, Young Adult, Cardiac Myosins genetics, Cardiomyopathy, Hypertrophic, Familial genetics, Carrier Proteins genetics, Genetic Association Studies, Mutation, Myosin Heavy Chains genetics, Troponin T genetics
- Abstract
Background:: Mutations in sarcomeric genes are found in 60-70% of individuals with familial forms of hypertrophic cardiomyopathy (HCM). However, this estimate refers to northern hemisphere populations. The molecular-genetic profile of HCM has been subject of few investigations in Brazil, particularly in the south of the country., Objective:: To investigate mutations in the sarcomeric genes MYH7, MYBPC3 and TNNT2 in a cohort of HCM patients living in the extreme south of Brazil, and to evaluate genotype-phenotype associations., Methods:: Direct DNA sequencing of all encoding regions of three sarcomeric genes was conducted in 43 consecutive individuals of ten unrelated families., Results:: Mutations for CMH have been found in 25 (58%) patients of seven (70%) of the ten study families. Fourteen (56%) individuals were phenotype-positive. All mutations were missense, four (66%) in MYH7 and two (33%) in MYBPC3. We have not found mutations in the TNNT2 gene. Mutations in MYH7 were identified in 20 (47%) patients of six (60%) families. Two of them had not been previously described. Mutations in MYBPC3 were found in seven (16%) members of two (20%) families. Two (5%) patients showed double heterozygosis for both genes. The mutations affected different domains of encoded proteins and led to variable phenotypic expression. A family history of HCM was identified in all genotype-positive individuals., Conclusions:: In this first genetic-molecular analysis carried out in the south of Brazil, we found mutations in the sarcomeric genes MYH7 and MYBPC3 in 58% of individuals. MYH7-related disease was identified in the majority of cases with mutation., Fundamento:: Mutações em genes do sarcômero são encontradas em 60-70% dos indivíduos com formas familiares de cardiomiopatia hipertrófica. (CMH). Entretanto, essa estimativa refere-se a populações de países do hemisfério norte. O perfil genético-molecular da CMH foi tema de poucos estudos no Brasil, particularmente na região sul do país., Objetivo:: Realizar a pesquisa de mutações dos genes sarcoméricos MYH7, MYBPC3 e TNNT2 numa coorte de CMH estabelecida no extremo sul do Brasil, assim como avaliar as associações genótipo-fenótipo., Métodos:: Sequenciamento direto do DNA de todas as regiões codificantes dos três genes sarcoméricos foi realizada em 43 indivíduos consecutivos de dez famílias não-relacionadas., Resultados:: Mutações para CMH foram encontradas em 25 (58%) indivíduos de sete (70%) das dez famílias estudadas, sendo 14 (56%) deles fenótipo-positivos. Todas as mutações eram missense, quatro (66%) no gene MYH7 e duas (33%) no gene MYBPC3. Não foram encontradas mutações no gene TNNT2. Mutações em MYH7 foram identificadas em 20 (47%) indivíduos de seis (60%) famílias. Duas delas não haviam sido previamente relatadas. Mutações de MYBPC3 foram detectadas em sete (16%) membros de duas (20%) famílias. Dois (5%) indivíduos apresentaram dupla heterozigose com mutações em ambos os genes. As mutações acometeram distintos domínios das proteínas codificadas e produziram expressão fenotípica variável. História familiar de CMH foi identificada em todos os indivíduos genótipo-positivos., Conclusões:: Nessa primeira análise genético-molecular da CMH realizada no sul do Brasil, foram encontradas mutações nos genes sarcoméricos MYH7 e MYBPC3 em 58% dos indivíduos. Doença relacionada ao gene MYH7 foi identificada na maioria dos casos com mutação., Competing Interests: Potential Conflict of Interest No potential conflict of interest relevant to this article was reported.
- Published
- 2016
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6. Diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in patients suspected of having mild or atypical cystic fibrosis.
- Author
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Dal'Maso VB, Mallmann L, Siebert M, Simon L, Saraiva-Pereira ML, and Dalcin Pde T
- Subjects
- Adolescent, Adult, Cross-Sectional Studies, Cystic Fibrosis classification, Cystic Fibrosis pathology, Female, Humans, Male, Phenotype, Sweat chemistry, Cystic Fibrosis genetics, Cystic Fibrosis Transmembrane Conductance Regulator genetics, Mutation genetics
- Abstract
Objective: To evaluate the diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in patients suspected of having mild or atypical cystic fibrosis (CF)., Methods: This was a cross-sectional study involving adolescents and adults aged > 14 years. Volunteers underwent clinical, laboratory, and radiological evaluation, as well as spirometry, sputum microbiology, liver ultrasound, sweat tests, and molecular analysis of the CFTR gene. We then divided the patients into three groups by the number of mutations identified (none, one, and two or more) and compared those groups in terms of their characteristics., Results: We evaluated 37 patients with phenotypic findings of CF, with or without sweat test confirmation. The mean age of the patients was 32.5 ± 13.6 years, and females predominated (75.7%). The molecular analysis contributed to the definitive diagnosis of CF in 3 patients (8.1%), all of whom had at least two mutations. There were 7 patients (18.9%) with only one mutation and 26 patients (70.3%) with no mutations. None of the clinical characteristics evaluated was found to be associated with the genetic diagnosis. The most common mutation was p.F508del, which was found in 5 patients. The combination of p.V232D and p.F508del was found in 2 patients. Other mutations identified were p.A559T, p.D1152H, p.T1057A, p.I148T, p.V754M, p.P1290P, p.R1066H, and p.T351S., Conclusions: The molecular analysis of the CFTR gene coding region showed a limited contribution to the diagnostic investigation of patients suspected of having mild or atypical CF. In addition, there were no associations between the clinical characteristics and the genetic diagnosis.
- Published
- 2013
- Full Text
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7. [The tarsal tunnel syndrome].
- Author
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Serre H, Simon L, Claustre J, and de Azevedo MA
- Subjects
- Adult, Aged, Female, Humans, Middle Aged, Tarsal Tunnel Syndrome, Foot Diseases, Peripheral Nervous System Diseases
- Published
- 1965
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