Zobrazeno 1 - 10 of 264 pro vyhledávání: '"BECKMANN, J. S."'
1
Akademický článek
Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease
Autor: Zanoni, P., Khetarpal, S. A., Larach, D. B., Hancock-Cerutti, W. F., Millar, J. S., Cuchel, M., DerOhannessian, S., Kontush, A., Surendran, P., Saleheen, D., Trompet, S., Cooper, R. S., Chowdhury, R., Dedoussis, G., de Faire, U., Feranil, A. B., Sheu, W. H.- H., Ferrucci, L., Freimer, N. B., Gieger, C., Sengupta, S., Grallert, H., Groop, L. C., Gudnason, V., Tanaka, T., Gyllensten, U., Hamsten, A., Erdmann, J., Harris, T. B., Shuldiner, A. R., Hingorani, A., Hirschhorn, J. N., Gravito, M. L., Wilson, J. F., Hofman, A., Hovingh, G. K., Hsiung, C. A., Humphries, S. E., Teslovich, T. M., Hunt, S. C., Hveem, K., Iribarren, C., Siegbahn, A., Groves, C. J., Nordestgaard, B. G., Njolstad, I., Jarvelin, M.-R., Jula, A., Kahonen, M., Kaprio, J., Kesaniemi, A., Kivimaki, M., Thorleifsson, G., Kooner, J. S., Hallmans, G., Koudstaal, P. J., Kuulasmaa, K., Gustafsson, S., Krauss, R. M., Kuh, D., Nielsen, S. F., Kuusisto, J., Kyvik, K. O., Laakso, M., Lakka, T. A., Hartikainen, A.-L., Lind, L., Van den Herik, E. G., Lindgren, C. M., Kanoni, S., Spector, T. D., Martin, N. G., Marz, W., McCarthy, M. I., McKenzie, C. A., Tybjaerg-Hansen, A., Assimes, T. L., Meneton, P., Metspalu, A., Moilanen, L., Morris, A. D., Ganna, A., Voight, B. F., Stefansson, K., Munroe, P. B., van Pelt, L. J., Waite, L. L., Hayward, C., Strachan, D. P., Tayo, B. O., Tremoli, E., Tuomilehto, J., Uusitupa, M., Chen, J., van Duijn, C. M., Vollenweider, P., Wallentin, L., Liu, D. J., Hernandez, D., Vedantam, S., Wareham, N. J., Jukema, J. W., Whitfield, J. B., Wolffenbuttel, B. H. R., Ordovas, J. M., Buchkovich, M. L., Boerwinkle, E., Palmer, C. N. A., Thorsteinsdottir, U., Hicks, A. A., Chasman, D. I., Rotter, J. I., Wainwright, N., Franks, P. W., Perola, M., Wong, A., Riatti, S., Mora, S., Cupples, L. A., Sandhu, M. S., Rauramaa, R., Rich, S. S., Boehnke, M., Deloukas, P., Mohlke, K. L., Wijmenga, C., Ingelsson, E., Gu, D., Roberts, R., Beckmann, J. S., Wu, Y., Peloso, G. M., Blankenberg, S., Watkins, H., Clarke, R., Collins, R., Kim, B.-J., Wild, S. H., McPherson, R., Nieminen, M. S., Barroso, I., Holm, H., O'Donnell, C., Schreiber, S., Zhang, W., Salomaa, V., Zalloua, P. A., Mannisto, S., Amouyel, P., Willemsen, G., Arveiler, D., Hung, Y.-J., Bragg-Gresham, J. L., Ferrieres, J., Muller-Nurasyid, M., Ferrario, M., Kee, F., Absher, D., Willer, C. J., Samani, N., Schunkert, H., Butterworth, A. S., Sattar, N., Wilsgaard, T., Chang, H.-Y., Howson, J. M. M., Pedersen, N. L., Di Angelantonio, E., Demirkan, A., Den Hertog, H. M., Do, R., Donnelly, L. A., Ehret, G. B., Illig, T., Esko, T., Feitosa, M. F., Ferreira, T., Been, L. F., Power, C., Fischer, K., Song, C., Fontanillas, P., Fraser, R. M., Freitag, D. F., Jones, M. R., Gurdasani, D., Heikkila, K., Hypponen, E., Isaacs, A., Jackson, A. U., Pramstaller, P. P., Johansson, A., Bolton, J. L., Young, E. H., Johnson, T., Kaleebu, P., Kaakinen, M., Kettunen, J., Kleber, M. E., Li, X., Luan, J., Lyytikainen, L.-P., Price, J. F., Magnusson, P. K. E., Mangino, M., Mihailov, E., Kastelein, J. J. P., Zhao, J. H., Bonnycastle, L. L., Montasser, M. E., Nolte, I. M., OConnell, J. R., Palmer, C. D., Petersen, A.-K., Schmidt, R. F., Sanna, S., Saxena, R., Bandinelli, S., Service, S. K., Shah, S., Adair, L. S., Shungin, D., Brambilla, P., Sidore, C., De Craen, A., Burnett, M. S., Psaty, B. M., Cesana, G., Khaw, K.-T., Dimitriou, M., Doney, A. S. F., Doring, A., Elliott, P., Epstein, S. E., Eyjolfsson, G. I., Gigante, B., Goodarzi, M. O., Quertermous, T., Kim, E., Stitziel, N. O., Volcik, K. A., Klopp, N., Komulainen, P., Kumari, M., Langenberg, C., Ford, I., Lehtimaki, T., Lin, S.-Y., Lindstrom, J., Bennett, F., Danesh, J., Loos, R. J. F., Uitterlinden, A. G., Mach, F., McArdle, W. L., Meisinger, C., Mitchell, B. D., Muller, G., Nagaraja, R., Packard, C., Narisu, N., Kathiresan, S., Nieminen, T. V. M., Bochud, M., Nsubuga, R. N., Olafsson, I., Ong, K. K., Palotie, A., Papamarkou, T., Pomilla, C., Pouta, A., Rader, D. J., Reilly, M. P., Majumder, A. a. S., Ridker, P. M., Sanghera, D. K., Boehm, B. O., Rivadeneira, F., Rudan, I., Ruokonen, A., Scharnagl, H., Seeley, J., Asiki, G., Silander, K., Stancakova, A., Stirrups, K., Swift, A. J., Saramies, J., Alam, D. S., Boomsma, D. I., Tiret, L., Strawbridge, R. J., Abecasis, G., Watson, S., Borecki, I. B., Bornstein, S. R., Bovet, P., Burnier, M., Campbell, H., Schwarz, P. E. H., Chakravarti, A., Chambers, J. C., Chen, Y.-D. I., Collins, F. S., Schmidt, E. M., Surakka, I.
Scavenger receptor BI (SR-BI) is the major receptor for high-density lipoprotein (HDL) cholesterol (HDL-C). In humans, high amounts of HDL-C in plasma are associated with a lower risk of coronary heart disease (CHD). Mice that have depleted Scarb1 (S
Externí odkaz: http://hdl.handle.net/10150/623258
http://arizona.openrepository.com/arizona/handle/10150/623258
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5
Akademický článek
A Gene Map of the Human Genome
Autor: Schuler, G. D., Boguski, M. S., Stewart, E. A., Stein, L. D., Gyapay, G., Rice, K., White, R. E., Rodriguez-Tomé, P., Aggarwal, A., Bajorek, E., Bentolila, S., Birren, B. B., Butler, A., Castle, A. B., Chiannilkulchai, N., Chu, A., Clee, C., Cowles, S., Day, P. J. R., Dibling, T., Drouot, N., Dunham, I., Duprat, S., East, C., Edwards, C., Fang, N., Fizames, C., Garrett, C., Green, L., Hadley, D., Harris, M., Harrison, P., Brady, S., Hicks, A., Holloway, E., Hui, L., Hussain, S., Ma, J., MacGilvery, A., Mader, C., Maratukulam, A., Matise, T. C., McKusick, K. B., Morissette, J., Mungall, A., Muselet, D., Nusbaum, H. C., Page, D. C., Peck, A., Perkins, S., Piercy, M., Qin, F., Quackenbush, J., Ranby, S., Reif, T., Rozen, S., Sanders, C., She, X., Silva, J., Slonim, D. K., Soderlund, C., Tabar, P., Thangarajah, T., Vega-Czarny, N., Vollrath, D., Voyticky, S., Wilmer, T., Wu, X., Adams, M. D., Aufiray, C., Walter, N. A. R., Brandon, R., Dehejia, A., Goodfellow, P. N., Houlgatte, R., Hudson, J. R., Ide, S. E., Iorio, K. R., Lee, W. Y., Seki, N., Nagase, T., Ishikawa, K., Nomura, N., Phillips, C., Polymeropoulos, M. H., Sandusky, M., Schmitt, K., Berry, R., Swanson, K., Torres, R., Venter, J. C., Sikela, J. M., Beckmann, J. S., Weissenbach, J., Myers, R. M., Cox, D. R., James, M. R., Bentley, D., Deloukas, P., Lander, E. S., Hudson, T. J.
Publikováno v: Science, 1996 Oct . 274(5287), 540-546.
Externí odkaz: https://www.jstor.org/stable/2899627
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7
Akademický článek
Splice Junctions Follow a 205-Base Ladder
Autor: Beckmann, J. S., Trifonov, E. N.
Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 1991 Mar . 88(6), 2380-2383.
Externí odkaz: https://www.jstor.org/stable/2356386
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8
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities
Autor: D'Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Mace, A., Pain, A., Bernier, R., Chawner, S. J. R. A., David, A., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., Ferrari, C., Forzano, F., Gerard, M., Goin-Kochel, R. P., Grant, E., Hunter, J. V., Isidor, B., Jacquette, A., Jonch, A. E., Keren, B., Lacombe, D., Le Caignec, C., Martin, C. L., Mannik, K., Metspalu, A., Mignot, C., Mukherjee, P., Owen, M. J., Passeggeri, M., Rooryck-Thambo, C., Rosenfeld, J. A., Spence, S. J., Steinman, K. J., Tjernagel, J., Van Haelst, M., Shen, Y., Draganski, B., Sherr, E. H., Ledbetter, D. H., van den Bree, M. B. M., Beckmann, J. S., Spiro, J. E., Reymond, A., Jacquemont, S., Chung, W. K., Knoers, N. V. A. M., Martinet, D., Belfiore, M., Cuvellier, J. -C., Devries, B., Delrue, M. -A., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, M. A., Minet, J. -C., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, B. H., Koolen, D. A., Vulto-Van Silfhout, A., de Leeuw, N., Rosanfeld, J. A., Filges, I., Achatz, E., Roetzer, K. M., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, P. M., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, G. P., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Freminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, R. F., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A. L., Benedetti, M., Berg, J., Berman, J., Berry, L. N., Bibb, A. L., Blaskey, L., Brennan, J., Brewton, C. M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A. G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Endre, J., Evans, Y. L., Findlay, A., Fischbach, G. D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S. E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F. I., Jenkins, J., Jeremy, R. J., Johnson, K., Kanne, S. M., Kessler, S., Khan, S. Y., Ku, M., Kuschner, E., Laakman, A. L., Lam, P., Lasala, M. W., Lee, H., La, K., Levy, S., Lian, A., Llorens, A. V., Loftus, K., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., Mcgovern, K. E., Keehn, R. M., Miller, D. T., Miller, F. K., Moss, T. J., Murray, R., Nagarajan, S. S., Nowell, K. P., Owen, J., Paal, A. M., Packer, A., Page, P. Z., Paul, B. M., Peters, A., Peterson, D., Poduri, A., Pojman, N. J., Porche, K., Proud, M. B., Qasmieh, S., Ramocki, M. B., Reilly, B., Roberts, T. P. L., Shaw, D., Sinha, T., Smith, B., Snow, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A.
Publikováno v: JAMA psychiatry
Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study 2016, ' Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities ', JAMA Psychiatry, vol. 73, no. 1, pp. 20-30 . https://doi.org/10.1001/jamapsychiatry.2015.2123
JAMA PSYCHIATRY
JAMA psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 1, pp. 20-30
JAMA Psychiatry
Jama Psychiatry, vol. 73, no. 1, pp. 20-30
JAMA Psychiatry, 73(1), 20. American Medical Association
JAMA Psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 20-30
Contains fulltext : 167711.pdf (Publisher’s version ) (Closed access) IMPORTANCE: The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as de
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::221714038bda1846e56d6e2e8e45f87a
http://archpsyc.jamanetwork.com/article.aspx?articleid=2471269
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9
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
Autor: Loviglio, M. N, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., Roberts Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J., Marshall, C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A., Collaborators: Loviglio MN, Männik, K, van der Werf, I, Giannuzzi, G, Zazhytska, M, Gheldof, N, Migliavacca, E, Alfaiz, Aa, Roberts Caldeira, I, Hippolyte, L, Maillard, Am, Ferrarini, A, Butschi, Fn, Conrad, B, Addor, Mc, Belfiore, M, Roetzer, K, Dijck, Av, Blaumeiser, B, Kooy, F, Roelens, F, Dheedene, A, Chiaie, Bd, Menten, B, Oostra, A, Caberg, Jh, Carter, M, Kellam, B, Stavropoulos, Dj, Marshall, C, Scherer, Sw, Weksberg, R, Cytrynbaum, C, Bassett, A, Lowther, C, Gillis, J, Mackay, S, Bache, I, Ousager, Lb, Smerdel, Mp, Graakjaer, J, Kjaergaard, S, Metspalu, A, Mathieu, M, Bonneau, D, Guichet, A, Parent, P, Férec, C, Gerard, M, Plessis, G, Lespinasse, J, Masurel, A, Marle, N, Faivre, L, Callier, P, Layet, V, Meur, Nl, Le Goff, C, Duban Bedu, B, Sukno, S, Boute, O, Andrieux, J, Blanchet, P, Geneviève, D, Puechberty, J, Schneider, A, Leheup, B, Jonveaux, P, Mercier, S, David, A, Le Caignec, C, de Pontual, L, Pipiras, E, Jacquette, A, Keren, B, Gilbert Dussardier, B, Bilan, F, Goldenberg, A, Chambon, P, Toutain, A, Till, M, Sanlaville, D, Leube, B, Royer Pokora, B, Grabe, Hj, Schmidt, Co, Schurmann, C, Homuth, G, Thorleifsson, G, Thorsteinsdottir, U, Bernardini, L, Novelli, A, Micale, L, Merla, G, Zollino, M, Mari, Francesca, Rizzo, Cl, Renieri, Alessandra, Silengo, M, Vulto van Silfhout AT, Schouten, M, Pfundt, R, de Leeuw, N, Vansenne, F, Maas, Sm, Barge Schaapveld DQ, Knegt, Ac, Stadheim, B, Rodningen, O, Houge, G, Price, S, Hawkes, L, Campbell, C, Kini, U, Vogt, J, Walters, R, Blakemore, A, Gusella, Jf, Shen, Y, Scott, D, Bacino, Ca, Tsuchiya, K, Ladda, R, Sell, S, Asamoah, A, Hamati, Ai, Rosenfeld, Ja, Shaffer, Lg, Mitchell, E, Hodge, Jc, Beckmann, Js, Jacquemont, S, Reymond, A, Ewans, Lj, Mowat, D, Walker, J, Amor, Dj, Esch, Hv, Leroy, P, Bamforth, Js, Babu, D, Isidor, B, Didonato, N, Hackmann, K, Passeggeri, M, Haeringen, Av, Smith, R, Ellingwood, S, Farber, Dm, Puri, V, Zadeh, N, Weaver, Dd, Miller, M, Wilks, T, Jorgez, Cj, Lafayette, D
Publikováno v: Molecular Psychiatry
Molecular Psychiatry, 22, 6, pp. 836-849
Molecular Psychiatry, Vol. 22, No 6 (2017) pp. 836-849
Molecular psychiatry
Molecular Psychiatry, vol. 22, no. 6, pp. 836-849
Molecular psychiatry, 22(6), 836-849. Nature Publishing Group
Molecular Psychiatry, 22, 836-849
Ousager, L B & 2p15 Consortium 2017, ' Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes ', Molecular Psychiatry, vol. 22, no. 6, pp. 836-849 . https://doi.org/10.1038/mp.2016.84
Contains fulltext : 174530.pdf (Publisher’s version ) (Open Access) Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 2
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e98c19065714c6dc4dc463a87aed674
https://pubmed.ncbi.nlm.nih.gov/27240531
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10
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