Many pitfalls in diagnosis of acute intermittent porphyria: a case report von Indika, N L R, Kesavan, T, Dilanthi, H W, Jayasena, K L S P K M, Chandrasiri, N D P D, Jayasinghe, I N, Piumika, U M T, Vidanapathirana, D M, Gunarathne, K D A V, Dissanayake, M, Jasinge, E, Arachchi, W Kodikara, Doheny, D, Desnick, R J

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Comparative performance of gene‐based warfarin dosing algorithms in a multiethnic population von LUBITZ, S. A., SCOTT, S. A., ROTHLAUF, E. B., AGARWAL, A., PETER, I., DOHENY, D., VAN DER ZEE, S., JAREMKO, M., YOO, C., DESNICK, R. J., HALPERIN, J. L.

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Phenotypic features of myoclonus-dystonia in three kindreds von DOHENY, D. O, BRIN, M. F, SCHILLING, K, KRAMER, P, DE LEON, D, RAYMOND, D, SAUNDERS-PULLMAN, R, KLEIN, C, BRESSMAN, S. B, SCHMAND, B, TIJSSEN, M. A. J, OZELIUS, L. J, MORRISON, C. E, SILVERMAN, J. M, SMITH, C. J, WALKER, R. H, ABBASI, S, MÜLLER, B, GARRELS, J, LIU, L, DE CARVALHO AGUIAR, P

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Clinical findings of a myoclonus-dystonia family with two distinct mutations von DOHENY, D, DANISI, F, BREAKEFIELD, X. O, BRIN, M. F, SILVERMAN, J. M, SMITH, C, MORRISON, C, VELICKOVIC, M, DE LEON, D, BRESSMAN, S. B, LEUNG, J, OZELIUS, L, KLEIN, C

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ε-sarcoglycan mutations found in combination with other dystonia gene mutations von Klein, Christine, Liu, Liu, Doheny, Dana, Kock, Norman, Müller, Birgitt, De Carvalho Aguiar, Patricia, Leung, Joanne, De Leon, Deborah, Bressman, Susan B., Silverman, Jeremy, Smith, Christopher, Danisi, Fabio, Morrison, Chris, Walker, Ruth H., Velickovic, Miodrag, Schwinger, Eberhard, Kramer, Patricia L., Breakefield, Xandra O., Brin, Mitchell F., Ozelius, Laurie J.

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Association of a Missense Change in the D2 Dopamine Receptor with Myoclonus Dystonia von Klein, Christine, Brin, Mitchell F., Kramer, Patricia, Sena-Esteves, Miguel, de Leon, Deborah, Doheny, Dana, Bressman, Susan, Fahn, Stanley, Breakefield, Xandra O., Ozelius, Laurie J.

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Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism von LEUNG, Joanne Chung-On, KLEIN, Christine, EISENGART, Marvin, JANKOVIC, Joseph, GASSER, Thomas, BRESSMAN, Susan B, COREY, David P, KRAME, Patricia, BRIN, Mitchell F, OZELIUS, Laurie J, BREAKEFIELD, Xandra O, FRIEDMAN, Jennifer, VIEREGGE, Peter, JACOBS, Helfried, DOHENY, Dana, KAMMER, Christoph, DELEON, Deborah, PRAMSTALLER, Peter P, PENNEY, John B

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A Major Locus for Myoclonus-Dystonia Maps to Chromosome 7q in Eight Families von Klein, Christine, Schilling, Karla, Saunders-Pullman, Rachel J., Garrels, Jennifer, Breakefield, Xandra O., Brin, Mitchell F., deLeon, Deborah, Doheny, Dana, Fahn, Stanley, Fink, J. Stephen, Forsgren, Lars, Friedman, Jennifer, Frucht, Steven, Harris, Juliette, Holmgren, Gosta, Kis, Bernhard, Kurlan, Roger, Kyllerman, Martin, Lang, Anthony E., Leung, Joanne, Raymond, Deborah, Robishaw, Janet D., Sanner, Gunnar, Schwinger, Eberhard, Tabamo, Rowena E., Tagliati, Michele, Vieregge, Peter, Wahlström, Jan, Wendt, Kristin J., Kramer, Patricia L., Bressman, Susan B., Ozelius, Laurie J.

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Mutation at the SCA17 locus is not a common cause of parkinsonism von Hernandez, Dena, Hanson, Melissa, Singleton, Amanda, Gwinn-Hardy, Katrina, Freeman, Jason, Ravina, Bernard, Doheny, Dana, Gallardo, Marisol, Weiser, Roberto, Hardy, John, Singleton, Andrew

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83 QUANTITATION OF ANTIEPILEPTIC DRUGS WITH HPLC AND TWO FPIA METHODS von Ratnaraj, Neville, Doheny, Helen D., Patsalos, Philip N.

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Manipulating stomatal density enhances drought tolerance without deleterious effect on nutrient uptake von Hepworth, Christopher, Doheny‐Adams, Timothy, Hunt, Lee, Cameron, Duncan D., Gray, Julie E.

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Electronic Access to Account Information and Financial Privacy von Doheny, Donald A, rer, Graydon John

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Doing evidence-based medicine? How NHS managers ration high-cost drugs von Hughes, David, Doheny, Shane

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Genome-wide Association Scan for Childhood Caries Implicates Novel Genes von Shaffer, J.R., Wang, X., Feingold, E., Lee, M., Begum, F., Weeks, D.E., Cuenco, K.T., Barmada, M.M., Wendell, S.K., Crosslin, D.R., Laurie, C.C., Doheny, K.F., Pugh, E.W., Zhang, Q., Feenstra, B., Geller, F., Boyd, H.A., Zhang, H., Melbye, M., Murray, J.C., Weyant, R.J., Crout, R., McNeil, D.W., Levy, S.M., Slayton, R.L., Willing, M.C., Broffitt, B., Vieira, A.R., Marazita, M.L.

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Germline Sequencing DNA Repair Genes in 5545 Men With Aggressive and Nonaggressive Prostate Cancer von Darst, Burcu F, Dadaev, Tokhir, Saunders, Ed, Sheng, Xin, Wan, Peggy, Pooler, Loreall, Xia, Lucy Y, Chanock, Stephen, Berndt, Sonja I, Gapstur, Susan M, Stevens, Victoria, Albanes, Demetrius, Weinstein, Stephanie J, Gnanapragasam, Vincent, Giles, Graham G, Nguyen-Dumont, Tu, Milne, Roger L, Pomerantz, Mark, Schmidt, Julie A, Mucci, Lorelei, Catalona, William J, Hetrick, Kurt N, Doheny, Kimberly F, MacInnis, Robert J, Southey, Melissa C, Eeles, Rosalind A, Wiklund, Fredrik, Kote-Jarai, Zsofia, Conti, David V, Haiman, Christopher A

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Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma von Wiggs, Janey L, Yaspan, Brian L, Hauser, Michael A, Kang, Jae H, Allingham, R Rand, Olson, Lana M, Abdrabou, Wael, Fan, Bao J, Wang, Dan Y, Brodeur, Wendy, Budenz, Donald L, Caprioli, Joseph, Crenshaw, Andrew, Crooks, Kristy, Delbono, Elizabeth, Doheny, Kimberly F, Friedman, David S, Gaasterland, Douglas, Gaasterland, Terry, Laurie, Cathy, Lee, Richard K, Lichter, Paul R, Loomis, Stephanie, Liu, Yutao, Medeiros, Felipe A, McCarty, Cathy, Mirel, Daniel, Moroi, Sayoko E, Musch, David C, Realini, Anthony, Rozsa, Frank W, Schuman, Joel S, Scott, Kathleen, Singh, Kuldev, Stein, Joshua D, Trager, Edward H, Vanveldhuisen, Paul, Vollrath, Douglas, Wollstein, Gadi, Yoneyama, Sachiko, Zhang, Kang, Weinreb, Robert N, Ernst, Jason, Kellis, Manolis, Masuda, Tomohiro, Zack, Don, Richards, Julia E, Pericak-Vance, Margaret, Pasquale, Louis R, Haines, Jonathan L

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The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers von Amos, Christopher I, Dennis, Joe, Wang, Zhaoming, Byun, Jinyoung, Schumacher, Fredrick R, Gayther, Simon A, Casey, Graham, Hunter, David J, Sellers, Thomas A, Gruber, Stephen B, Dunning, Alison M, Michailidou, Kyriaki, Fachal, Laura, Doheny, Kimberly, Spurdle, Amanda B, Li, Yafang, Xiao, Xiangjun, Romm, Jane, Pugh, Elizabeth, Coetzee, Gerhard A, Hazelett, Dennis J, Bojesen, Stig E, Caga-Anan, Charlisse, Haiman, Christopher A, Kamal, Ahsan, Luccarini, Craig, Tessier, Daniel, Vincent, Daniel, Bacot, François, Van Den Berg, David J, Nelson, Stefanie, Demetriades, Stephen, Goldgar, David E, Couch, Fergus J, Forman, Judith L, Giles, Graham G, Conti, David V, Bickeböller, Heike, Risch, Angela, Waldenberger, Melanie, Brüske-Hohlfeld, Irene, Hicks, Belynda D, Ling, Hua, McGuffog, Lesley, Lee, Andrew, Kuchenbaecker, Karoline, Soucy, Penny, Manz, Judith, Cunningham, Julie M, Butterbach, Katja, Kote-Jarai, Zsofia, Kraft, Peter, FitzGerald, Liesel, Lindström, Sara, Adams, Marcia, McKay, James D, Phelan, Catherine M, Benlloch, Sara, Kelemen, Linda E, Brennan, Paul, Riggan, Marjorie, O'Mara, Tracy A, Shen, Hongbing, Shi, Yongyong, Thompson, Deborah J, Goodman, Marc T, Nielsen, Sune F, Berchuck, Andrew, Laboissiere, Sylvie, Schmit, Stephanie L, Shelford, Tameka, Edlund, Christopher K, Taylor, Jack A, Field, John K, Park, Sue K, Offit, Kenneth, Thomassen, Mads, Schmutzler, Rita, Ottini, Laura, Hung, Rayjean J, Marchini, Jonathan, Amin Al Olama, Ali, Peters, Ulrike, Eeles, Rosalind A, Seldin, Michael F, Gillanders, Elizabeth, Seminara, Daniela, Antoniou, Antonis C, Pharoah, Paul D P, Chenevix-Trench, Georgia, Chanock, Stephen J, Simard, Jacques, Easton, Douglas F

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Genomewide association study for susceptibility genes contributing to familial Parkinson disease von Pankratz, Nathan, Wilk, Jemma B, Latourelle, Jeanne C, DeStefano, Anita L, Halter, Cheryl, Pugh, Elizabeth W, Doheny, Kimberly F, Gusella, James F, Nichols, William C, Foroud, Tatiana, Myers, Richard H

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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities von Chong, Jessica X., Buckingham, Kati J., Jhangiani, Shalini N., Boehm, Corinne, Sobreira, Nara, Smith, Joshua D., Harrell, Tanya M., McMillin, Margaret J., Wiszniewski, Wojciech, Gambin, Tomasz, Coban Akdemir, Zeynep H., Doheny, Kimberly, Scott, Alan F., Avramopoulos, Dimitri, Chakravarti, Aravinda, Hoover-Fong, Julie, Mathews, Debra, Witmer, P. Dane, Ling, Hua, Hetrick, Kurt, Watkins, Lee, Patterson, Karynne E., Reinier, Frederic, Blue, Elizabeth, Muzny, Donna, Kircher, Martin, Bilguvar, Kaya, López-Giráldez, Francesc, Sutton, V. Reid, Tabor, Holly K., Leal, Suzanne M., Gunel, Murat, Mane, Shrikant, Gibbs, Richard A., Boerwinkle, Eric, Hamosh, Ada, Shendure, Jay, Lupski, James R., Lifton, Richard P., Valle, David, Nickerson, Deborah A., Bamshad, Michael J.

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Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome von Gripp, Karen W., Robbins, Katherine M., Sobreira, Nara L., Witmer, P. Dane, Bird, Lynne M., Avela, Kristiina, Makitie, Outi, Alves, Daniela, Hogue, Jacob S., Zackai, Elaine H., Doheny, Kimberly F., Stabley, Deborah L., Sol-Church, Katia

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