Results 51 to 60 of about 1,572,926 (319)
E7 Oncogene HPV58 Variants Detected in Northeast Brazil: Genetic and Functional Analysis
Microorganisms, 2023 Cervical cancer is associated with persistent infections by high-risk Human Papillomavirus (HPV) types that may have nucleotide polymorphisms and, consequently, different oncogenic potentials.Bárbara Simas Chagas, Elias Tibúrcio Júnior, Ruany Cristyne de Oliveira Silva, Daffany Luana dos Santos, Marconi Rego Barros Junior, Rita de Cássia Pereira de Lima, Maria da Conceição Viana Invenção, Vanessa Emanuelle Pereira Santos, Pedro Luiz França Neto, Antônio Humberto Silva Júnior, Jacinto Costa Silva Neto, Marcus Vinícius de Aragão Batista, Antonio Carlos de Freitas +12 moredoaj +1 more sourceDetection of SARS-CoV-2 Δ426 ORF8 Deletion Mutant Cluster in NGS Screening
Microorganisms, 2023 Next-generation sequencing (NGS) from SARS-CoV-2-positive swabs collected during the last months of 2022 revealed a large deletion spanning ORF7b and ORF8 (426 nt) in six patients infected with the BA.5.1 Omicron variant.Riccardo Cecchetto, Emil Tonon, Nicoletta Medaina, Giona Turri, Erica Diani, Pier Paolo Piccaluga, Angela Salomoni, Michela Conti, Evelina Tacconelli, Anna Lagni, Virginia Lotti, Mosé Favarato, Davide Gibellini +12 moredoaj +1 more sourceEuropean Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents
Pediatric Blood &Cancer, EarlyView.ABSTRACT
Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach +23 morewiley +1 more sourceHundreds of variants clustered in genomic loci and biological pathways affect human height [PDF]
, 2010 Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits(1)Lawrence, Robert W, Preuss, M., Pastinen, Tomi, Cusi, D., Ridker, P.M., P. Elliott, D. Absher, Kwan, T, Assimes, Themistocles L., Heid, I. M., Ingelsson, E., Elosua, R., Jianjun Liu, Sanna, Serena, Hall, A.S. (Alistair), Boerwinkle, E., Anneli Pouta, Huikuri, H.V. (Heikki), Qi, L., Knowles, JW, Hayes, Richard B, Palmer, L.J., Hicks, Andrew A, D. J. Hunter, Hengstenberg, Christian, Palmer, C., Nelis, M, Mari Nelis, Glazer, NL, A. S. Hall, A. U. Jackson, Rafelt, S, Sanders, A. R., A. T. Hattersley, Smith, AV, Kaprio, Jaakko, Antti Jula, Qi, Lu, Soumya Raychaudhuri, Monda, Keri L., Uitterlinden, André G, Turchin, MC, Perry, J.R., Ardlie, K. G., Lawrence, Robert W., O´Connell, J.R., S. Kathiresan, Geus, E.J., Sambrook, Jennifer G., Stefansson, K, Willemsen, G.A.H.M. (Gonneke), O'Donnell, CJ, Palmer, Lyle J., Frayling, Timothy M., M. den Heijer, Wichmann, H.E. (Heinz Erich), Bhangale, T. (Tushar), Jianxin Shi, Montgomery, G.W., Igl, W., Harris, T.B. (Tamara), Haritunians, T. (Talin), Geus, E. J., Quertermous, T., Waterworth, D. (Dawn), Boomsma, D. I., Atwood, Larry D, Sanders, A.R., Smit, J.H., Meurs, J.B.J., Kilpeläinen, T.O., Munroe, PB, Cupples, L.A. (Adrienne), Pastinen, T., A. R. Wood, Mary F. Feitosa, Larry D. Atwood, Liu, Jianjun, Cusi, D. (Daniele), Qi, L, Peters, M. J., Rivadeneira, F, S. H. Wild, K. B. Jacobs, Tony Kwan, Raychaudhuri, Soumya, Eero Kajantie, Gyllensten, Ulf,, J. Hua Zhao, Strachan, David P., Schreiber, S., Hall, AS, M. J. Caulfield, Markku S. Nieminen, Kwan, T., Johnson, T, Penninx, B.W.J.H., V. Steinthorsdottir, Rudan, I. (Igor), Workalemahu, Tsegaselassie, Shaun Purcell, Kajantie, E, Kocher, T, O’Donnell, Christopher J., Palmer, Cameron, K. G. Ardlie, et al., Smith, A.V. (Albert Vernon), Knowles, J. W., Willem H. Ouwehand, Ouwehand, Willem H, Hirschhorn, J. N., Benjamin F. Voight, Zillikens, M. C., Tammesoo, M.L., Dixon, A.L., Mark Lathrop, G., Alice M. Arnold, Robertson, N. R., Morris, Andrew, C. M. Lindgren, Vitart, Veronique, Völzke, H. (Henry), Johannes Kettunen, Iribarren, Carlos, Johansson, Åsa,, Voight, B. F., Kolcic, I. (Ivana), Martin, Nicholas G, A. Johansson, Musk, AW, Cupples, L.A., Kähönen, M., Ketkar, S, Lettre, G, Yurii S. Aulchenko, Erdmann, Je., Morris, AP, Christian Hengstenberg, Wright, A.F., E. Salvi, Robert W. Lawrence, Kilpeläinen, TO, J. Duan, Jaakko Tuomilehto, Riddertrale, M., Robertson, N.R., Thompson, JR, C. Rivolta, Ana Marusic, Charles C. White, Lachlan Coin, Gibson, Q., Gudbjartsson, Daniel, Altmaier, EL, Wareham, N.J., Weedon, Michael N., T. O. Kilpeläinen, Haiqing, Shen, Ulf Gyllensten, Peter P. Pramstaller, Wild, S.H. (Sarah), Katja K. Aben, Erdmann, Jeanette, Ngwa, JS, Chatterjee, N, I. M. Heid, van Ommen, GJ, D. R. Nyholt, David S. Siscovick, Mosley Jr, T.H., Weyant, R.J., Salvi, E. (Erika), E. Widen, Zgaga, L, Heath, A.C., Johan G. Eriksson, Illig, T., Hall, Per, Rafelt, Suzanne, Kilpelainen, T. O., Nyholt, D.R., Barbara McKnight, Visscher, PM, M. Mangino, Monda, K.L., Hicks, Andrew A., Jackson, A.U., U. Sovio, J. r. Mosley TH, Ben Oostra, Oskari Kilpeläinen, Tuomas, Pietiläinen, Kirsi H, Wilson, James F, Huikuri, Heikki V, Jennie Hui, Peters, Marjolein, Tönjes, A. (Anke), Völzke, H, Parker, AN, Ridderstråle, M. (Martin), Liu, J. (Jianjun), Schmidt, C.O., Ripatti, S., E. L. Altmaier, de Geus, EJC, Heard-Costa, Nancy L., Daniel Gudbjartsson, Erdmann, J, Wright, AF, Aulchenko, Y.S., Hottenga, J.J., A. Petersmann, Joel N. Hirschhorn, Farrall, M. (Martin), Iris M. Heid, Palmer, LJ, Wood, Andrew R, Parker, A. N., Cornelia M. van Duijn, Hicks, A.A., Beckmann, Jacques S, Geus, Eco JC, Almgren, P. (Peter), Hirschhorn, J.N. (Joel), Hua Zhao, Jing, Waterworth, D., Florian Ernst, Melander, O, Jacques S. Beckmann, Stumvoll, M. (Michael), Thorsteinsdottir, U, Polasek, Ozren, Eco J. C. Geus, Hui, J.N., Jarvelin, MR, Dixon, Anna L., Salomaa, V. (Veikko), Perry, J. R., Eriksson, J.G., Thorsteinsdottir, U. (Unnur), Groop, L. (Leif), Winkler, T.W., Lorentzon, Mattias,, Stefan Schreiber, Jackson, Anne U, Boucher, G. (Gabrielle), Walters, G. Bragi, Steinthorsdottir, V. (Valgerdur), Wiklund, F. (Fredrik), Mueller, M, Julius Suh Ngwa, Shi, JX, Sanders, Alan R, A. S. Havulinna, Ferreira, T., Barroso, Ines, Goddard, M.E. (Michael), Collins, FS, Chatterjee, N., Thor Aspelund, E. Kajantie, Heard-Costa, NL, Mosley, Tom H., Jr., Zhao, JH, D. F. Levinson, R. C. Kaplan, Kaplan, R.C., David J. Hunter, Tom H. Mosley Jr, Pramstaller, PP, Shi, J., Mosley, Tom H., Rissanen, A, Wilmar Igl, Pouta, A. (Anneli), Hayes, Richard B., Visscher, Peter M., Schmidt, Carsten Oliver, Kutalik, Z. (Zoltán), Esko, T. (Tõnu), Barroso, I.E. (Inês), Elisabeth Widen, Elliott, P., J. Suh Ngwa, North, KE, L. Qi, Nyholt, DR, Wheeler, Eleanor, Hayes, RB, Jonathan P. Tyrer, Pietilainen, K.H. (Kirsi Hannele), McCarthy, M.I. (Mark), Marjo-Riitta Jarvelin, Spector, Timothy D, Duijn, C.M. (Cornelia) van, C. Gieger, Grundberg, E. (Elin), Gejman, P.V. (Pablo), Weedon, M. N., Suh Ngwa, J., Mägi, R., Beilby, John P, Kiemeney, L.A.L.M., White, C. C., Elosua, Roberto, L. Coin, N. L. Glazer, Tuomilehto, J., Toenjes, A, A. R. Sanders, U. Thorsteinsdottir, L. Adrienne Cupples, Deloukas, P, Vedantam, S. (Sailaja), Smit, Jan H., Hunter, D.J. (David), Aben, K. K., Launer, L. J., Serena Sanna, N. W. Rayner, Heid, I.M. (Iris), R. Mägi, Ngwa, J.S., Chasman, D.I. (Daniel), Robertson, Neil R, E. Ingelsson, Cameron Palmer, Lango Allen, H., Mohlke, K.L., K. K. Aben, Campbell, Harry, T. Bhangale, Rayner, Nigel W., Jan H. Smit, Voight, Benjamin F, C. C. White, Allen, Hana Lango, Shi, J. (Jianxin), Segrè, A.V. (Ayellet), Atwood, L.D. (Larry), van Ommen, G.J., Leena Peltonen, Arnold, A. M., Feitosa, M.F. (Mary Furlan), Zgaga, L. (Lina), M. Kayser, Bergmann, S, F. Ernst, Lawrence, RW, Kari Stefansson, A. M. Arnold, Steinthorsdottir, V., N. Amin, De Grandi, Alessandro, Hartikainen, AL, S. Schreiber, Hu, Frank B., Atwood, Larry D., Ripatti, S, J. P. Beilby, Hengstenberg, C, Lindgren, Cecilia M, Lorentzon, M. (Mattias), Erdmann, J. (Jeanette), Chasman, DI, L. Citterio, Fox, C.S., Vilmundur Gudnason, A. L. Dixon, Cristen J. Willer, Thompson, J.R., Michael A. Province, Lathrop, G.M. (Mark), van Ommen, G. J., Ivana Kolcic, Marusic, A, Wilson, J.F., Samani, N.J., Kathiresan, S, Petersmann, Astrid, Raitakari, O., Konig, I. R., T. Johnson, Coin, L. (Lachlan), D. Gudbjartsson, Junttila, M.J., Beilby, JP, Perry, JB, A. Dominiczak, M. Farrall, Soranzo, N., Zoltán Kutalik, Pouta, A., Widen, Elisabeth, Rotter, J. I., Walters, G.B. (Bragi), Perry, JR, Ernst, F, Perola, M. (Markus), Schmidt, CO, Wichmann, HE, Hall, P., Zagato, L., Preuss, Michael, Heather M. Stringham, Segrè, A.V., Pichler, Irene, Alistair S. Hall, Mark I. McCarthy, Bergman, R. N., Ken Sin Lo, Thompson, J.R. (John), Gabrielle Boucher, Kovacs, P, Spector, Timothy D., Bergmann, S., Kaprio, J, Smit, J.H. (Jan), Farrall, M., Frayling, Timothy M, Lokki, Marja Liisa, J. Erdmann, Heath, AC, Van Meurs, Joyce B J, Tyrer, J. P., Illig, T, Cupples, L Adrienne, Lo, Ken Sin, Aulchenko, Yurii S., Cupples, L. Adrienne, Peden, John F., Beckmann, J.S. (Jacques), de Geus, E.J.C., Schreiber, S, Willemsen, G.; id_orcid, Prokopenko, I, Martina Müller, M. Juhani Junttila, Montgomery, Grant W, Citterio, L., Alessandro De Grandi, vVan Meurs, JBJ, Ferreira, T. (Teresa), Samani, Nilesh J, Peltonen, L. (Leena Johanna), Hattersley, Andrew T, Gudbjartsson, D, V. Mooser, Richard B. Hayes, Oliver Schmidt, C., P. M. Visscher, Boomsma, Dorret I., McArdle, W.L., Hirschhorn, J.N., T. Illig, Kovacs, Peter, Chatterjee, Nilanjan, Melander, O., A. G. Uitterlinden, Rissanen, Aila, Chen, C. (Constance), Zitting, P. (Paavo), H. Völzke, H. Alavere, Reedik Mägi, Hayward, Caroline, Hofman, A. (Albert), H. Watkins, Eriksson, J. G., Albert Hofman, Hao, K, Voight, B.F., Igl, Wilmar, Wild, S. H., Andrea Maschio, Boucher, G, T. Esko, Martin, N. G., Michael E. Goddard, Caulfield, MJ, Haritunians, T., Mosley, T. H., Lyle J. Palmer, Hottenga, J. J., Kaplan, Robert C, Hottenga, Jouke Jan, Kayser, Manfred, Nancy L. Heard-Costa, Hicks, AA, Aspelund, T, J. B. van Meurs, Cusi, D, Weedon, MN, Rayner, NW, Watkins, Hugh, Christian Gieger, Albrecht, E, Salem, R.M. (Rany), John R. B. Perry, Lathrop, G.M., Anna Dominiczak, Pellikka, Niina, C. Oliver Schmidt, Michael Boehnke, Jackson, A. U., Hayes, R.B., Spector, T.D., Hoffman, W. (Wolfgang), Loos, R.J.F., Park, Ju Hyun, Koiranen, M., J. Xu, G. W. Montgomery, L. Zagato, Balmforth, A. J., Kathiresan, Sekar, Wilson, JF, D.M. Cusi, Aulchenko, Yurii S, Perry, John RB, Province, Michael A, Andrew T. Hattersley, Knowles, J.W. (Joshua), Inke R. König, Rany M. Salem, Raychaudhuri, S, Abecasis, G. R., I. B. Borecki, S. Haiqing, Absher, D., T. Workalemahu, Johnson, T. (Toby), Maschio, A., Wilson, J.F. (James), Zillikens, MC, Altmaier, Elizabeth L., White, C.C., Meitinger, T. (Thomas), Weedon, M., Cooper, M.N. (Matthew), Rivolta, C. (Carlo), Verlaan, D. J., Peter Kovacs, Wheeler, E. (Eleanor), Robertson, N.R. (Neil), Fox, Caroline S, Nyholt, Dale, A. Vernon Smith, Gejman, P. V., Uda, M., Freimer, Nelson B, McArdle, W. L., Altmaier, E. L., M. N. Cooper, Rivadeneira Ramirez, F. (Fernando), McKnight, Barbara, V. Gudnason, Harris, Tamara B, Peters, M.J., Kathiresan, S., Sin Lo, K, Kettunen, Johannes, Campbell, H. (Harry), Wheeler, E., Caulfield, M. (Mark), L. J. Launer, Boehnke, M, Ruth J. F. Loos, Sanna, S, K. E. North, H.-Erich Wichmann, Wichmann, H.-E., van Duijn, C. M., Peltonen, L, Hu, F.B., Cooper, Matthew N, Suzanne Rafelt, Peden, J. (John), Borecki, Ingrid B., Kari E. North, Purcell, S., E. E. Schadt, M. N. Weedon, Huikuri, HV, Pellikka, N., Schadt, EE, A. L. Hartikainen, Vedantam, Sailaja, Eiriksdottir, G, Parker, A.N. (Alex), Nelis, M. (Mari), Perry, John R. B., Martin Farrall, Mooser, Vincent, Uitterlinden, AG, Illig, T. (Thomas), Gejman, Pablo V, Zillikens, M.C. (Carola), Sovio, U, Gieger, C, Chanock, Stephen J, Tamara B. Harris, Wichmann, H-Erich, Ouwehand, W.H. (Willem), Watkins, H., Aspelund, T. (Thor), Nelson B. Freimer, S. I. Berndt, Schlessinger, D., White, Charles C, Winkler, T.W. (Thomas), Altmaier, E.L., Mark J. Caulfield, Seppo Koskinen, Atwood, L. D., K. Hao, van Duijn, CM, Schadt, Eric E., Lawrence, R.W. (Robert), K. L. Mohlke, R. B. Hayes, Vandenput, Liesbeth, Paul M. Ridker, I. Rudan, Jarvelin, M.R., White, CC, Alan R. Sanders, Salem, Rany M., Chasman, Daniel I, R. W. Lawrence, Kocher, T. (Thomas), Wiklund, F., Kolcic, I., Havulinna, A.S., Kocher, T., Martin, NG, Ridker, P. M., L. J. Palmer, Johnson, T., Salomaa, V, Sambrook, J.G. (Jennifer), Schadt, HE, Jian Yang, Yang, Jian, Steinthorsdottir, V, J. R. O'Connell, Lambertus Kiemeney, Winkler, Thomas W., del Maschio, A, Kaplan, Lee M., Province, MA, Rivolta, C., Goddard, Michael E, Shuldiner, A.R., Paré, G., Workalemahu, T, Jula, A. (Antti), Soranzo, N. (Nicole), Nyholt, Dale R, Kaplan, R.C. (Robert), Nicola Glorioso, Koiranen, Markku, Uda, Manuela, John P. Beilby, Kiemeney, L, Prokopenko, Inga, Parker, Alex N., Oliver Schmidt, Carsten, Jian’an Luan, Peters, M.J. (Marjolein), Schmidt, C. O., Bergmann, Sven, A. N. Parker, Launer, Lenore J., Fox, C. S., Bergmann, S.M. (Sven), Ouwehand, W. H., Daniel I. Chasman, Wichmann, H. E., Loos, R.J.F. (Ruth), E. K. Speliotes, Wareham, N.J. (Nick), Nieminen, Markku S, McKnight, B. (Barbara), Salvi, E, Petersmann, A., Erika Salvi, Hunter, David J, Balmforth, AJ, Luan, Jian’an, Eriksson, J.G. (Johan), Kiemeney, L.A.L.M. (Bart), Alavere, H. (Helene), W. Igl, Esko, T, Almgren, Peter,, Rotter, Jerome I, Stefansson, K. (Kari), Vincent Mooser, Thompson, John R., N. J. Samani, Rissanen, A., Themistocles L. Assimes, P. Zitting, Erdmann, J., M. Nelis, Rioux, John D, Aulchenko, Y. S., van Meurs, J. B., Laitinen, J, A. A. Hicks, D. Waterworth, Paavo Zitting, Absher, Devin, Balmforth, Anthony J, G. J. van Ommen, Aben, Katja K., Pellikka, N. (Niina), Muller, M (Majon), A. Tönjes, Mika Kähönen, Uitterlinden, A. G., Berndt, S. I., Mooser, V. (Vincent), Kilpeläinen, Tuomas O, Frayling, T. M., Musk, A.W. (Arthur), W. H. Ouwehand, K. Sin Lo, Stefansson, H., Cupples, LA, Verlaan, Dominique J, Penninx, Brenda W., Zgaga, L., Beckmann, J.S., B. W. Penninx, Lettre, G. (Guillaume), A. Metspalu, Palmer, C. (Cameron), H. E. Wichmann, Jula, A, Penninx, B.W., McCarthy, M.I., Raychaudhuri, S., Polasek, O., Morris, Andrew P., Cupples, L. A., Junttila, M.J. (Juhani), P. M. Ridker, D. S. Siscovick, A. Hofman, Tyrer, JP, Koskinen, S., Marusic, A. (Ana), Collins, Francis S., Sinisalo, Juha, J. P. Tyrer, Weyant, R.J. (Robert), Niina Pellikka, Luan, Jian'an, Harris, TB, Allen, HL, T. Meitinger, Duan, J, Maschio, A, Deloukas, Panos, Christopher J. O’Donnell, Chanock, SJ, Wareham, Nicholas J., O'Connell, J.R., K. Estrada, Laitinen, Jaana, Salvi, E., Abecasis, GR, Anna L. Dixon, Oostra, B.A. (Ben), Allen, H., Perry, John B., Speliotes, EK, Ardlie, KG, Zhao, J.H., Berndt, SI, Koenig, IR, S. Ketkar, Vitart, V, N. Glorioso, M. Lorentzon, Liang, L. (Liming), Hayward, C, Borecki, I.B. (Ingrid), Assimes, Themistocles L, Berndt, S., Vedantam, S, Gyllensten, U. (Ulf), Lina Zgaga, Strachan, DP, G. Mark Lathrop, Kilpelaeinen, T.O., Speliotes, E., Glazer, N.L., Assimes, TL, Kettunen, J, Spector, TD, Schadt, Eric E, Igor Rudan, Elin Grundberg, Speliotes, E. K., Pablo V. Gejman, Smit, JH, W. L. McArdle, Lindgren, C. M., Siscovick, D.S. (David), Berndt, S.I., Hall, P, De Grandi, A, Nieminen, M.S., Glorioso, N., Quertermous, T. (Thomas), Hartikainen, A.L., Ommen, G.J. van, van Meurs, JB, Jouke-Jan Hottenga, Jacobs, K. B., Jacobs, K.B., L. Peltonen, Strachan, D. P., Henry Völzke, Lo, KS, Zagato, L, Hattersley, Andrew T., Jubao Duan, Tönjes, A, Peden, JF, Geus, Eco J C, Liang, L., T. Haritunians, Uda, M. (Manuela), Lehtimäki, T, Strachan, David P, M. L. Tammesoo, T. W. Winkler, Tammesoo, ML, R. Elosua, Abecasis, G.R. (Gonçalo), Speliotes, Elizabeth K, Spector, T. D., Tyrer, J.P., Samani, Nilesh J., R. J. Weyant, Campbell, H, Pichler, I. (Irene), Hofman, Bert, Wright, A. F., Watkins, H, Schadt, H.E., Kolcic, I, L. Kiemeney, Heath, A.C. (Andrew), Eriksson, Johan G., Kajantie, E., Hui, J. (Jennie), Nyholt, D.R. (Dale), Carola Zillikens, M., Feitosa, Mary F., Caroline S. Fox, Michael Stumvoll, Grundberg, Elin, Wood, A.R. (Andrew), Jorma Viikari, Sinisalo, J. (Juha), Heid, IM, Wichmann, H.-Erich, Uitterlinden, André, Kraft, P, Pouta, Anneli, Lorentzon, Mattias, Anke Tönjes, Park, J-H, Gieger, C., Surakka, I. (Ida), North, K.E. (Kari), Siscovick, DS, Iribarren, C, Raychaudhuri, S. (Soumya), Province, M.A., Ridker, Paul M, Arnold, Alice M, M. Müller, Verlaan, Dominique J., Elliott, P. (Paul), Ziegler, A. (Andreas), Sven Bergmann, Johansson, A, Lathrop, GM, Gudmar Thorleifsson, Coin, L, Peters, Marjolein J, J. Yang, O'Donnell, Christopher J., Richard N. Bergman, M. J. Peters, Jarvelin, M-R, Workalemahu, T., Tyrer, Jonathan P, Havulinna, Aki S, Beilby, J. P., Hartikainen, Anna Liisa, Mangino, Massimo, de Geus, E.J.C.; id_orcid, Lokki, M.L., Bragi Walters, G, Ohlsson, Claes,, Hicks, A.A. (Andrew), Irene Pichler, B. Oostra, Ripatti, S. (Samuli), Thompson, J. R., Wild, S.H., Gonneke Willemsen, Abecasis, Goncalo R., Mosley, TH, Albert Vernon Smith, Ferreira, T, Hamsten, A. (Anders), N. B. Freimer, Stefansson, K., Dominiczak, A, Eiriksdottir, G., van Meurs, J.B., Massimo Mangino, Aben, K.K., A. V. Segrè, Ouwehand, WH, Willemsen, G, Caroline Hayward, Harris, Tamara B., Hunter, David J., Van Duijn, Cornelia M., Boomsma, D.I.; id_orcid, Sanders, AR, O’Donnell, C.J., Sin Lo, Ken, Jarvelin, Marjo-Ritta, Groop, L. C., Harry Campbell, Goddard, ME, Gudbjartsson, D.F., T. Aspelund, Strachan, D.P., Launer, LJ (Lenore), Schadt, E. E., N. Chatterjee, Peter Almgren, Uitterlinden, André; id_orcid, J. Kaprio, Farrall, Martin, Surakka, I, Cooper, MN, Kahonen, Mika, Veronique Vitart, Rivadeneira, F., Neil R. Robertson, Viikari, J, Mooser, V, Rudan, Igor, I. Pichler, Lokki, M. L., Beckmann, Jacques S., Zitting, P., Michael C. Turchin, Inês Barroso, Wilson, J. F., Levinson, Douglas F, van Ommen, G.J.B, Heid, IM., Joyce B. J. van Meurs, Kraft, P. (Peter), Weedon, Michael N, P. Almgren, Sovio, U., Völzke, H., König, I.R., Estrada, Karol, Johnson, Toby, Heard-Costa, N.L. (Nancy), J. Shi, O'Donnell, Christopher J, Ke Hao, Andrew R. Wood, Meitinger, T, J. J. Hottenga, Manfred Kayser, P. Deloukas, T. Quertermous, Thorsteinsdottir, U., N. Pellikka, Eric E. Schadt, Boomsma, DI, O. Melander +999 morecore +1 more sourceHealth‐Related Quality of Life and Symptom Severity Among Patients With PIK3CA‐Related Overgrowth Spectrum: A Mixed‐Methods Study to Understand Real‐World Experience With Alpelisib Treatment
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background
PIK3CA‐related overgrowth spectrum (PROS) includes several rare overgrowth disorders resulting from somatic gain‐of‐function mutations in PIK3CA. Despite treatment advances, including the recent approval of alpelisib for PROS in the United States, literature detailing the patient experience with PROS is limited.Vamsi Bollu, Kaitlin LaGasse, Cory D. Saucier, Kimberly Raymond, Miranda Lauher‐Charest, Lauren Crowder, Beilei Cai, Mary Lisha Paul, Denise Adams +8 morewiley +1 more sourceGenome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits [PDF]
, 2011 Nonalcoholic fatty liver disease (NAFLD) clusters in families, but the only known common genetic variants influencing risk are near PNPLA3. We sought to identify additional genetic variants influencing NAFLD using genome-wide association (GWA) analysis ...Palmer Cameron D., Schwartz, SM, Benjamin F Voight, Fox, Caroline S., Hwang, Shih-Jen, GIANT Consortium, Launer, Lenore, Hernaez, R, Melissa E. Garcia, Hwang, SJ, Pietiläinen, Kirsi Hannele, Harris, Tamara B, Mitchell, Braxton D., CRISPONI, LAURA, Butler, Johannah L, Massaro, J.M., Gudnason, V., Feitosa, MF, Jeanne M. Clark, Massaro, J., Jørgensen, Torben, O'Donnell Christopher J., Stephen M. Schwartz, Schwartz SM, Palmer, C., Eiriksdottir, Gudny, Joel N Hirschhorn, Kao W. H. Linda, Laura M. Yerges-Armstrong, Stephen M Schwartz, Jeanne M Clark, Borecki Ingrid B., Mitchell, Braxton, Smith, AV, null null, Palmer, C.D., Kao, W.H.L., Johannah L. Butler, Butler, Johannah L., Borecki, IB, Palmer CD, Salomaa, V., Hirschhorn, Joel, Borecki, Ingrid B., Johannah L Butler, Speliotes, Elizabeth K, Fox Caroline S., Shuldiner, Alan R., Fox CS, Hoffmann, Udo, Palmer, CD, Nalls, Michael, Garcia, Melissa E, Hwang SJ, Wu, Jun, Mary F Feitosa, Massaro, Joseph M., Eiriksdottir G, Schadt, EE, Voight, Benjamin F, Nalls, Michael A., Clark, Jeanne M., Eiriksdottir, G, Smith AV, O'Donnell, CJ, Sahani DV, NASH CRN, Schwartz Stephen M., Lauren J Kim, CJ, Butler Johannah L., Speliotes, Elizabeth K., Tamara B Harris, Speliotes, E.K., Feitosa, Mary F., Joseph M. Massaro, Caroline S. Fox, Smith, Albert V, Launer, Lenore J, Shuldiner Alan R., GOLD Consortium, Hoffmann, U, Harris, Tamara, Tamara B. Harris, Garcia Melissa E., Kao, W. H Linda, Albert V. Smith, Mitchell BD, Smith, A.V., Voight, BF, Voight, Benjamin F., Mary F. Feitosa, Alan R Shuldiner, Kim, L.J., Kao, W H Linda, Speliotes EK, Siscovick, DS, Schadt, Eric E., Fox, C.S., Vilmundur Gudnason, Sahani, Dushyant V, Ruben Hernaez, Raychaudhuri, Soumya, Cameron D Palmer, Dushyant V Sahani, Salomaa, Veikko, O'Donnell, Christopher J., Feitosa, Mary, Shuldiner AR, Carr, J Jeffrey, Harris, T.B., Speliotes Elizabeth K., Salomaa, V, Posthuma, D., Tomas, Marta, Palmer, Cameron D, Tomas, M, Wu Jun, Siscovick David S., Launer Lenore J., Palmer, Cameron, et al., de Geus, E.J.C.; id_orcid, Butler, J.L., Clark Jeanne M., Hernaez, R., Mitchell, Braxton D, Borecki, Ingrid B, Shuldiner, A.R., Voight Benjamin F., Benjamin F. Voight, Kao, WH Linda, Lenore J. Launer, Feitosa MF, Siscovick, David, Nalls, M.A., Carr, J. Jeffrey, Clark, JM, Garcia, Melissa E., Lenore J Launer, Hirschhorn Joel N., Hwang, S.J., Eiriksdottir, G., Launer, L.J., Laura M Yerges-Armstrong, Melissa E Garcia, Hwang, S., Christopher J O'Donnell, Yerges-Armstrong, Laura M., Clark, J., Kim Lauren J., Launer, Lenore J., Hirschhorn JN, Harris, Tamara B., Michael A. Nalls, Launer LJ, Boomsma, D.I.; id_orcid, J Jeffrey Carr, Massaro, JM, Braxton D. Mitchell, Posthuma, D.; id_orcid, Heijer, M. den, Shih-Jen Hwang, Siscovick, David S., Mitchell, BD, Siscovick DS, Gudnason V, Yerges-Armstrong, L.M., Launer, LJ (Lenore), Gudnason, Vilmundur, Veikko Salomaa, de Geus, E.J.C., O' DONNELL, Willemsen, G.; id_orcid, Mitchell, B., Shuldiner, Alan, Kim, Lauren J, Sahani Dushyant V., Smith Albert V., David S Siscovick, Schadt, Eric, Kao WH, Fox, CS, David S. Siscovick, Carr JJ, Butler, Johannah, Massaro, Joseph, Hoffmann U, Garcia, Melissa, Tomas Marta, Mitchell Braxton D., Christopher J. O'Donnell, Lokki, Marja-Liisa, Gudnason Vilmundur, Fox, Caroline, DIAGRAM Consortium, Schadt, E.E., Tomas M, Hirschhorn, J.N., Jun Wu, Nalls, M., Ingrid B Borecki, Launer, L., Harris TB, Palmer, Cameron D., O'Donnell, C.J., Nalls MA, Voight BF, Borecki IB, Salomaa V, Massaro, Joseph M, Voight, B.F., Nalls, MA, O'Donnell, Christopher J, Garcia, M., Harris Tamara B., Kao, W., Kao, WH, Elizabeth K Speliotes, Gudnason, V, Siscovick, D.S., Yerges-Armstrong, Laura, Siscovick, David S, Cameron D. Palmer, Smith, Albert, Garcia ME, Marta Tomas, Clark, Jeanne M, Eric E. Schadt, Hottenga, J.J., Wu, J, Caroline S Fox, Joel N. Hirschhorn, Wu, J., Hoffmann Udo, Schadt EE, Albert V Smith, Carr J. Jeffrey, Sahani, D.V., J. Jeffrey Carr, Michael A Nalls, Feitosa, Mary F, Kao, W.H., O'Donnell, Christopher, Kim LJ, Nalls Michael A., Feitosa Mary F., Schwartz, S.M., Smith, Albert V., Shuldiner, Alan R, Voight, Benjamin, Wu J, Alan R. Shuldiner, Borecki, Ingrid, Massaro Joseph M., Lauren J. Kim, Schwartz, Stephen M, SCUTERI, ANGELO, Kao, WHL, Speliotes, Elizabeth, Kim, LJ, Clark, Jeanne, Carr, J.J., Nalls, Michael A, Feitosa, M.F., Harris, TB, Willemsen, G., Hirschhorn, Joel N., Clark JM, Yerges-Armstrong, L., Ingrid B. Borecki, Eric E Schadt, Butler, J., Butler JL, Schwartz, Stephen, Yerges-Armstrong LM, Garcia, M.E., Hernaez Ruben, Shuldiner, AR, GIANT, Boomsma, D.I., Kim, L., Elizabeth K. Speliotes, O’Donnell, C., Clark, J.M., Yerges-Armstrong, Laura M, Kim, Lauren J., Garcia, ME, Joseph M Massaro, Mitchell, B.D., Massaro JM, Speliotes, EK, Kim, Lauren, Udo Hoffmann, Jansson, John-Olov,, W H Linda Kao, MAGIC Investigators, Launer, LJ, Shuldiner, A., Hirschhorn, Joel N, Salomaa Veikko, Dushyant V. Sahani, Hwang Shih-Jen, Tomas, M., Hernaez R, Geus, E.J.C. de, Borecki, I.B., Kao, W. H. Linda, Hwang, Shih Jen, Butler, JL, Sahani, Dushyant, Hirschhorn, JN, Sahani, Dushyant V., Speliotes, E., YERGES ARMSTRONG LM, Yerges-Armstrong Laura M., Hernaez, Ruben, Eiriksdottir Gudny, Sahani, DV, Gudny Eiriksdottir, Braxton D Mitchell, Schadt Eric E., Schadt, Eric E, Hoffmann, U., PAOLISSO, Giuseppe, Schwartz, Stephen M., W. H. Linda Kao, Carr, JJ, Yerges-Armstrong, LM, Fox, Caroline S +329 morecore +1 more source
