Results 61 to 70 of about 4,456 (190)
Prevalence of thalassemias and variant hemoglobins in the state of Goiás, Brazil [PDF]
, 2006 As anemias hereditárias, em especial as talassemias e hemoglobinas (Hb) variantes, são as mais comuns das alterações genéticas humanas; sua freqüência na população brasileira é muito variável, dependendo dos grupos raciais formadores de cada região.Mascarenhas, Cíntia do Couto, Diniz-Filho, José Alexandre Felizola, Dias-Penna, Karlla Greick Batista, Balestra, Fernando Amorim, Mesquita, Mauro Meira de, Ternes, Yves Mauro Fernandes, Chen, Lee Chen, Naoum, Paulo Cesar [UNESP], Naoum, Paulo Cesar, Melo-Reis, Paulo Roberto de +9 morecore +1 more sourceTriagem neonatal para hemoglobinopatias: um estudo piloto em Porto Alegre, Rio Grande do Sul, Brasil Neonatal screening for hemoglobinopathies: a pilot study in Porto Alegre, Rio Grande do Sul, Brazil
Cadernos de Saúde Pública, 2002 Este estudo, tem como o objetivo determinar a freqüência das hemoglobinopatias em neonatos, que realizaram a coleta para o Teste de Triagem Neonatal para Distúrbios Metabólicos no Hospital de Clínicas de Porto Alegre.Liane Esteves Daudt, Débora Zechmaister, Liliana Portal, Eurico Camargo Neto, Lúcia Mariano da Rocha Silla, Roberto Giugliani +5 moredoaj +1 more sourceBeta globin gene cluster haplotypes of abnormal hemoglobins observed in Turkey
, 2007 Since the first observation of hemoglobin S (Hb S) in Turkey by Aksoy, the number of hemoglobin variants reported was increased. Beta globin gene cluster haplotypes are being used to determine the origin of the mutations under interest.Bayram, J., Atalay, Ömer Erol, Öztürk, Onur, Koyuncu, H., Atalay, Ayfer., Özkan, Anzel, Aksoy, Kıymet, Köseler, Aylin, Demirtepe, Sanem +8 morecore Common Variants at 10 Genomic Loci Influence Hemoglobin A(1C) Levels via Glycemic and Nonglycemic Pathways [PDF]
, 2010 Glycated hemoglobin (HbA₁(c)), used to monitor and diagnose diabetes, is influenced by average glycemia over a 2- to 3-month period. Genetic factors affecting expression, turnover, and abnormal glycation of hemoglobin could also be associated with ...Döring, Angela, Stewart, A.F.R., Seedorf, Udo, Boehnke, M., Fox, Caroline S., Rocheleau, Ghislain, Wichmann HE, Samani, NJ, Uda, M., Elosua, R., Sanna, Serena, Boerwinkle, E., Wheeler, E., Sandhu, MS, Boehnke, M, Groop, L, Bornstein SR, Mangino, M., Sanna, S, Cao, A, Groop L, Jackson, Anne U., Wichmann, H.-E., Willenborg, C., Kuusisto, J, Zabena, C, Bonnycastle, LL, Sanna, S., Peltonen, L, Kooner, Jaspal, Lathrop, Mark, Kao, W.H.L., Hunter-Merril, R., Hottenga, J.-J., Langenberg, C, Lyssenko, V., Goel, A, Jackson AU, Devaney, J. M., Heath, S, Krohn, K., Groop, L., Heeney, M.M., Wallaschofski, H, Tönjes, Anke, Cao, A., Mälarstig, A, Ripatti S, Barroso, Inês, Burnett-Miller, M.S., Heeney, Matthew M, Cao A, Boerwinkle, Eric, Burnett-Miller, MS, Stefansson, K, Kong, Augustine, Oexle, Konrad, Altshuler, D., Boerwinkle, E, Wild, SH, Arking, D., Strawbridge, Rona, Roberts, Robert, Kao, W.H. Linda, Bonnycastle LL, Manjinder S. Sandhu, Gieger, C, Kuusisto J, Procardis Consortium Group, Meisinger, Christa, Li, Mingyao, Surakka, Ida, Wichmann, H-Erich, Willenborg, Christina, Goel, Anuj, Perola M, Kong, A., Böhm B, Wright, Alan F, Voight, Benjamin F., Dupuis J, Franzosi, Maria Grazia, Böttcher, Y., de Geus, Eco J C, Radke D, Dei, Mariano, Graessler, J., Meigs, JB, Stewart, Alexandre F.R., Homuth, G, Roden, M, Prokopenko I, Martínez-Larrad, MT, Campbell, Harry; id_orcid, März, Winfried, Strachan, David P., Kooner, J., Strawbridge, R, Salomaa, Veikko, Forouhi, N, Collins, Francis S, Gieger C, Clark, Robert, Laakso, M, Jula A, Stolerman, Elliot, Eleanor Wheeler, Kleber, M, ?, ?, Salomaa, V, Zhao, Jing Hua, Steinthorsdottir, V, Hall, A., Sanna, Serena; id_orcid, Böhm, B, Perola, M, Nauck, Matthias, Serrano-Ríos, Manuel, de Geus, EJ, McCarthy, MI, Knouff, C.W., Siscovick, David, Boehm, Bernhard, Sladek, R, Illig T, Saxena, R, Reilly, Muredach P., Greinacher, A, Lecoeur, C., Vitart, Veronique, Herder, C, Winkelmann, J., Magnusson, PK, Waterworth, Dawn M., Uda, Manuela, Prokopenko, Inga, Usala, G, Schunkert, H, Hadley, D., Radke, D, Arking, Dan, Loos, Ruth J.F., Procardis Consortium (), Dupuis, Josée, Graessler, J, Abecasis, G.R., Kleber, Marcus, Radke, Dörte, Sladek, Robert, Oexle, K, Abecasis, Gonçalo, Wareham, N.J., Barnes, Daniel, Martínez-Larrad, María Teresa, Mangino, M, Radke, D., Silveira, Angela, Böhm, Bernhard, Claudia Langenberg, Franzosi, MG, Heath, S., Goel, A., Erdmann, Jeanette, Elliot Stolerman, Seedorf, U, Fox, CS, Wright, B., Böttcher, Yvonne, Josée Dupuis, Kovacs, P., Pedersen, Nancy L., Illig, T., Laakso, M., Lyssenko, V, Herder, C., Ferrucci, L, Bonnefond, A., Kuusisto, J., Collins, F.S., Knouff, Christopher W., Jackson, A.U., McArdle, Wendy L., Laakso M, Voight BF, Bornstein, S.R., Dupuis, J, Greinacher, Andreas, Mägi, R, Bornstein, SR, Ricketts, S. L., Völzke, H, McPherson, R, Reilly, MP, Deloukas P, Elosua, R, Perola, Markus, Nathan, David M., Deloukas, P., Egan, JM, Köttgen, Anna, Wallaschofski, Henri, Waterworth, DM, Rocheleau, G, de Geus, Eco J.C., Erdmann, J, Wright, AF, Muredach P. Reilly, Rathmann, W, Sandhu MS, Wareham, NJ, Wright, Alan F., Matthew M. Heeney, Peltonen L, Jula, A, Teumer, A, Melander, O, Meigs, James B., Thorsteinsdottir, U, Polasek, Ozren, McCarthy, M.I., Böttcher, Y, Shrader, P, Graessler, Jürgen, Wild, Sarah H; id_orcid, Luan, J., Collins, Francis S., Willenborg C, Mooser, Vincent E., Homuth, Georg, Arking, D, Deloukas, Panos, Mälarstig, Anders, Wareham, Nicholas J., O'Donnell, C, Bonnefond, A, Meigs, J.B., Dei, M, Greinacher, A., Stumvoll, Michael, Rader, DJ, Collins, FS, Wilson, James F., Chambers J, Pankow, James S., Zhao, JH, Egan, J.M., Nabila Bouatia-Naji, Li, Man, Willenborg, C, Bouatia-Naji, N, Vitart, V, Schlessinger, David, Illig, Thomas, Meitinger, Thomas, Wilson, James F.; id_orcid, Bumpstead, S., Morken, MA, Burnett-Miller MS, Hayward, C, Boinstein, Stefan R., Hamsten, A, Stewart, Alexandre F. R., Laakso, Markku, Meisinger, C., Strachan, DP, Coresh, J., Hadley, David, Stewart, Alexandre F R, Bornstein, Stefan R., Spector, TD, Barnes, D., Wheeler, Eleanor, Chambers, J, Roberts, R, Burnett-Miller, Mary Susan, Heath, Simon, Gallina, S., Altshuler, David, Bornstein, Stefan R, Tanaka, T, Balkau, B, Luan, Jian'an, Mägi, R., Ferrucci, L., Barnes, D, Wright B, Elosua, Roberto, Stolerman, E, Stewart AF, Mohlke, Karen L., Köttgen, A., Sandhu, Manjinder S., Deloukas, P, Jackson, AU, Tönjes, A, Franklin, C., Peden, JF, Bumpstead, Suzannah, Peltonen, L., Serena Sanna, Heeney, M. M., Ricketts SL, Hall, A, Uda, M, Hayward, C., Altshuler D, Samani, Nilesh J., Mälastig, A., Campbell, H, Campbell, Harry, Sandhu, Manjinder S, Bouatia-Naji, Nabila, Bonnefond, Amélie, Narisu, Narisu, Song, K, Langenberg, Claudia, Balkau, B., Wild, Sarah H.; id_orcid, Watkins, H, Wheeler, E, Voight, Benjamin F, Chambers, John, Devaney, JM, Fleming, MD, Schwarz, P, Ferrucci, Luigi, Soranzo, N, Siscovick, D, Kühnel, B, Martinez-Larrad, M.T., Meitinger, T., Fleming, Mark D., Grallert, H., Selvin, E, Chamber, John, Gallina, Sophie, Khaw, KT, Voight, BF, Egan, Josephine M., Hamsten, A., Roden, Michael, Ripatti, S, Inga Prokopenko, Reilly MP, Stumvoll, M, Sanna S, Hakonarson, Hakon H., Lathrop, M, März, W, Shrader, Peter, Kao, W. H.Linda, Gieger, C., Döring, A., Barroso, I., Kleber, M., Grazia Franzosi, Maria, Olla, Nazario, Winkelmann, Juliane, Fox, C.S., Meisinger, C, Epstein, SE, Chambers, J., Doering, Angela, Kühne, B., Olla, N, Li, M., Wright, B, Heeney MM, Grallert, Harald, Jula, A., Willemsen, Gonneke, Zabena, Carina, Kathiresan, S, Rader, Daniel J., Pedersen, NL, Köttgen, A, Rathmann, Wolfgang, Altshuler, D, Peltonen, Leena, Soranzo, N., Barnes D, Hall, Alistair, Mangino, Massimo, Bohm, B., de Geus, E.J.C.; id_orcid, Li, M, Boehnke, Michael, Völzke, Henry, Wichmann, HE, Arking D, Florez, J.C., Campbell, H., Hadley, D, Coresh, Josef, Wild, S.H., Thorsteinsdottir, Unnur, Steinthorsdottir, Valgerdur, Dörte Radke, Lecoeur, Cécile, Wilson, James F; id_orcid, Kovacs, P, Spector, Timothy D., Payne, F, Egan, Josephine M, Devaney, Joseph M., Kong, A, Song, Kjioung, Bumpstead S, McCarthy, Mark I., Saxena, Richa, Teumer, Alexander, Usala, Gianluca, Willemsen, G, Boomsma, D.I.; id_orcid, Thorleifsson, G, Kooner, J, Ricketts, SL, Illig, T, McCarthy MI, Boomsma, Dorret I, Epstein, Stephen E., Hottenga, JJ, Wright, Benjamin, Melander O, Williams, Gordon H., Peden, John F., Nauck, M, Williams, GH, Porcu, Eleonora, de Geus, E.J.C., Willemsen, G.; id_orcid, Prokopenko, I, Payne, Felicity, Rathmann, W., Knouff, CW, WTCCC, Lyssenko, Valeriya, Khaw, Kay-Tee, Surakka, I, Böttcher Y, Krohn, K, Kao WH, Ricketts, Sally L, Rudan, Igor, Langenberg, C., Stefansson, Kari, Florez, JC, Morken, Mario A., Porcu, E, Hakonarson, HH, Boomsma, Dorret I., McArdle, W.L., Kovacs, Peter, Melander, O., Hunter-Merrill, R, Stolerman E, Hunter-Merrill, Rachel, Clark R, Forouhi, Nita, Prokopenko, I., Soranzo, Nicole, Hayward, Caroline, Wheeler E, Bouatia-Naji N, Schwarz, Peter, Mägi, Reedik, Meigs JB, Salomaa V, O'Donnell, Chris, Voight, B.F., Devaney, Joseph M, Heeney, MM, Meitinger, T, Boutaia-Naji, N., Kao, WH, Pedersen NL, Pankow, JS, Gieger, Christian, Kühnel, Brigitte, Swift, Amy J., Surakka I, Homuth, V., Reilly, M. P., Boettcher, Yvonne, Boomsma, DI, Boomsma DI, Nicole Soranzo, Bonnycastle, L.L., Marz, W., Coresh, J, Mohlke, KL, McArdle, Wendy L, Mooser, VE, Loos, RJ, Nathan, DM, Hottenga, Jouke Jan, Stewart, AF, Franklin, C, Silveira, A, Herder, Christian, Clark, R, Kuusisto, Johanna, Bonnycastle, Lori L, Franklin, Christopher, Devaney, J.M., Thorleifsson, Gudmar, Sandhu, M. S., Stefansson K, Ricketts, Sally L., Devaney JM, Boerwinkle E, Luan, J, McArdle, WL, Winkelmann, J, Watkins, Hugh, Christian Gieger, Serrano-Ríos, M, Magnusson, P.K.E., Barroso, I, Bonnefond A, Döring A, Spector TD, Bonnycastle, Lori L., Willemsen, G., Balkau, Beverley, McPherson, Ruth, Melander, Olle, Reilly, Muredach P, Cao, Antonio, Tanaka, Toshiko, Heeney, Matthew M., Dupuis, J., Schlessinger, D, Hottenga, Jouke-Jan, Gallina, S, Schunkert, Heribert, Wellcome Trust Case Consortium (WTCCC) (), Radke, Doerte, Loos, R.J.F., Die, M., Forouhi, N., Franzosi, M.G., Boomsma, D.I., Wichmann, H. Erich, Kathiresan, Sekar, Wilson, JF, Stolerman, E., Jula, Antti, Florez, Jose C., Geus, E.J.C., van der Hout, Annemarie, Joseph M. Devaney, Froguel, Philippe, Bouatia-Naji, N., Rudan, I, Abecasis, G, Polasek O, Sally L. Ricketts, Grallert, H, Wild, Sarah H., Narisu, N, de Geus, Eco J. C., Balkau B, Döring, A, Sandhu, M.S., Swift, AJ, Soranzo N, Krohn, Knut, Clark, R., Khaw, Kay Tee, Magnusson, Patrik K.E., Selvin, Elizabeth, Lecoeur, C, Hayward, Caroline; id_orcid, Groop, Leif, Ripatti, Samuli, Langenberg C, Bumpstead, S, Polasek, O, McPherson, R., Campbell H, Froguel, P., Hamsten, Anders, Reilly, M.P., Froguel, P, Ricketts, S.L., Fox, Caroline S +586 morecore +1 more sourceHemoglobin Himeji and inconsistent hemoglobin A1c values: a case report
Journal of Medical Case Reports, 2017 Background Hemoglobin A1c is used to evaluate the glycemic control in patients with diabetes and is a risk marker for chronic complications of diabetes. Hemoglobin variants are reported to falsely lower or increase hemoglobin A1c test results. We present Vânia Guedes, Rita Bettencourt-Silva, Joana Queirós, Maria da Luz Esteves, Maria José Teles, Davide Carvalho +5 moredoaj +1 more sourceHemoglobins AS/alpha thalassemia: Diagnostic importance [PDF]
, 2000 Sickle Cell disease is a generic term for a group of genetic disorders characterized by the predominance of hemoglobin S. These disorders include Sickle Cell anemia, the Sickle Cell beta Thalassemia syndromes and Hemoglobinopathies in which hemoglobin S ...Bonini-Domingos, Claudia R. [UNESP], Imperial, Rodrigo E. [UNESP], Orlando, Giselda M. [UNESP], Naoum, Paulo C. [UNESP], Tomé-Alves, Renata [UNESP], Marchi-Salvador, Daniela P. [UNESP], Bonini-Domingos, Claudia R., Palharini, Luciana A., Imperial, Rodrigo E., Palharini, Luciana A. [UNESP], Marchi-Salvador, Daniela P., Orlando, Giselda M., Naoum, Paulo C., Tomé-Alves, Renata +13 morecore +1 more sourceGenomics and the changing profile of human disease
, 2003 Within the last decade, much has been written on the impending impact of the Human Genome Project on human health. A typical perspective was offered in 1995 as part of the submission of the Royal College of Physicians to the Science and Technology ...Bittles, Alan H., Bittles, A.H.core
