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Comprehensive association analysis of nine candidate genes with serum 25-hydroxy vitamin D levels among healthy Caucasian subjects
Bu, Feng-Xiao, Armas, Laura, Lappe, Joan, Zhou, Yu, Gao, Guimin, Wang, Hong-Wei, Recker, Robert, Zhao, Lan-Juan
Published in Human genetics (01.11.2010)
Published in Human genetics (01.11.2010)
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Several common variants modulate heart rate, PR interval and QRS duration
Holm, Hilma, Gudbjartsson, Daniel F, Arnar, David O, Thorleifsson, Gudmar, Thorgeirsson, Gudmundur, Stefansdottir, Hrafnhildur, Gudjonsson, Sigurjon A, Jonasdottir, Aslaug, Mathiesen, Ellisiv B, Njølstad, Inger, Nyrnes, Audhild, Wilsgaard, Tom, Hald, Erin M, Hveem, Kristian, Stoltenberg, Camilla, Løchen, Maja-Lisa, Kong, Augustine, Thorsteinsdottir, Unnur, Stefansson, Kari
Published in Nature genetics (01.02.2010)
Published in Nature genetics (01.02.2010)
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Phasing of Many Thousands of Genotyped Samples
Williams, Amy L., Patterson, Nick, Glessner, Joseph, Hakonarson, Hakon, Reich, David
Published in American journal of human genetics (10.08.2012)
Published in American journal of human genetics (10.08.2012)
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Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy
Barwick, Katy E.S., Wright, Jane, Al-Turki, Saeed, McEntagart, Meriel M., Nair, Ajith, Chioza, Barry, Al-Memar, Ali, Modarres, Hamid, Reilly, Mary M., Dick, Katherine J., Ruggiero, Alicia M., Blakely, Randy D., Hurles, Matt E., Crosby, Andrew H.
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population
Asano, Kouichi, Matsushita, Tomonaga, Umeno, Junji, Hosono, Naoya, Takahashi, Atsushi, Kawaguchi, Takahisa, Matsumoto, Takayuki, Matsui, Toshiyuki, Kakuta, Yoichi, Kinouchi, Yoshitaka, Shimosegawa, Tooru, Hosokawa, Masayo, Arimura, Yoshiaki, Shinomura, Yasuhisa, Kiyohara, Yutaka, Tsunoda, Tatsuhiko, Kamatani, Naoyuki, Iida, Mitsuo, Nakamura, Yusuke, Kubo, Michiaki
Published in Nature genetics (01.12.2009)
Published in Nature genetics (01.12.2009)
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Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores
Sambuughin, Nyamkhishig, Yau, Kyle S., Olivé, Montse, Duff, Rachael M., Bayarsaikhan, Munkhuu, Lu, Shajia, Gonzalez-Mera, Laura, Sivadorai, Padma, Nowak, Kristen J., Ravenscroft, Gianina, Mastaglia, Frank L., North, Kathryn N., Ilkovski, Biljana, Kremer, Hannie, Lammens, Martin, van Engelen, Baziel G.M., Fabian, Vicki, Lamont, Phillipa, Davis, Mark R., Laing, Nigel G., Goldfarb, Lev G.
Published in American journal of human genetics (10.12.2010)
Published in American journal of human genetics (10.12.2010)
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A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia
Dhandapany, Perundurai S, Sadayappan, Sakthivel, Xue, Yali, Powell, Gareth T, Rani, Deepa Selvi, Nallari, Prathiba, Rai, Taranjit Singh, Khullar, Madhu, Soares, Pedro, Bahl, Ajay, Tharkan, Jagan Mohan, Vaideeswar, Pradeep, Rathinavel, Andiappan, Narasimhan, Calambur, Ayapati, Dharma Rakshak, Ayub, Qasim, Mehdi, S Qasim, Oppenheimer, Stephen, Richards, Martin B, Price, Alkes L, Patterson, Nick, Reich, David, Singh, Lalji, Tyler-Smith, Chris, Thangaraj, Kumarasamy
Published in Nature genetics (01.02.2009)
Published in Nature genetics (01.02.2009)
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Genome-wide meta-analysis for severe diabetic retinopathy
Grassi, M. A., Tikhomirov, A., Ramalingam, S., Below, J. E., Cox, N. J., Nicolae, D. L.
Published in Human molecular genetics (15.06.2011)
Published in Human molecular genetics (15.06.2011)
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Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease
Rainier, Shirley, Bui, Melanie, Mark, Erin, Thomas, Donald, Tokarz, Debra, Ming, Lei, Delaney, Colin, Richardson, Rudy J., Albers, James W., Matsunami, Nori, Stevens, Jeff, Coon, Hilary, Leppert, Mark, Fink, John K.
Published in American journal of human genetics (01.03.2008)
Published in American journal of human genetics (01.03.2008)
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SLC2A9 influences uric acid concentrations with pronounced sex-specific effects
Döring, Angela, Gieger, Christian, Mehta, Divya, Gohlke, Henning, Prokisch, Holger, Coassin, Stefan, Fischer, Guido, Henke, Kathleen, Klopp, Norman, Kronenberg, Florian, Paulweber, Bernhard, Pfeufer, Arne, Rosskopf, Dieter, Völzke, Henry, Illig, Thomas, Meitinger, Thomas, Wichmann, H-Erich, Meisinger, Christa
Published in Nature genetics (01.04.2008)
Published in Nature genetics (01.04.2008)
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Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3
MacGregor, Stuart, Montgomery, Grant W, Liu, Jimmy Z, Zhao, Zhen Zhen, Henders, Anjali K, Stark, Mitchell, Schmid, Helen, Holland, Elizabeth A, Duffy, David L, Zhang, Mingfeng, Painter, Jodie N, Nyholt, Dale R, Maskiell, Judith A, Jetann, Jodie, Ferguson, Megan, Cust, Anne E, Jenkins, Mark A, Whiteman, David C, Olsson, Håkan, Puig, Susana, Bianchi-Scarrà, Giovanna, Hansson, Johan, Demenais, Florence, Landi, Maria Teresa, Dębniak, Tadeusz, Mackie, Rona, Azizi, Esther, Bressac-de Paillerets, Brigitte, Goldstein, Alisa M, Kanetsky, Peter A, Gruis, Nelleke A, Elder, David E, Newton-Bishop, Julia A, Bishop, D Timothy, Iles, Mark M, Helsing, Per, Amos, Christopher I, Wei, Qingyi, Wang, Li-E, Lee, Jeffrey E, Qureshi, Abrar A, Kefford, Richard F, Giles, Graham G, Armstrong, Bruce K, Aitken, Joanne F, Han, Jiali, Hopper, John L, Trent, Jeffrey M, Brown, Kevin M, Martin, Nicholas G, Mann, Graham J, Hayward, Nicholas K
Published in Nature genetics (01.11.2011)
Published in Nature genetics (01.11.2011)
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How to reduce false positive results when undertaking in vitro genotoxicity testing and thus avoid unnecessary follow-up animal tests: Report of an ECVAM Workshop
Kirkland, David, Pfuhler, Stefan, Tweats, David, Aardema, Marilyn, Corvi, Raffaella, Darroudi, Firouz, Elhajouji, Azeddine, Glatt, Hansruedi, Hastwell, Paul, Hayashi, Makoto, Kasper, Peter, Kirchner, Stephan, Lynch, Anthony, Marzin, Daniel, Maurici, Daniela, Meunier, Jean-Roc, Müller, Lutz, Nohynek, Gerhard, Parry, James, Parry, Elizabeth, Thybaud, Veronique, Tice, Ray, van Benthem, Jan, Vanparys, Philippe, White, Paul
Published in Mutation research (30.03.2007)
Published in Mutation research (30.03.2007)
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An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation
Upadhyaya, M., Huson, S.M., Davies, M., Thomas, N., Chuzhanova, N., Giovannini, S., Evans, D.G., Howard, E., Kerr, B., Griffiths, S., Consoli, C., Side, L., Adams, D., Pierpont, M., Hachen, R., Barnicoat, A., Li, H., Wallace, P., Van Biervliet, J.P., Stevenson, D., Viskochil, D., Baralle, D., Haan, E., Riccardi, V., Turnpenny, P., Lazaro, C., Messiaen, L.
Published in American journal of human genetics (01.01.2007)
Published in American journal of human genetics (01.01.2007)
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Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China
Xiong, F, Sun, M, Zhang, X, Cai, R, Zhou, Y, Lou, J, Zeng, L, Sun, Q, Xiao, Q, Shang, X, Wei, X, Zhang, T, Chen, P, Xu, X
Published in Clinical genetics (01.08.2010)
Published in Clinical genetics (01.08.2010)
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Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
Arboleda, Valerie A, Lee, Hane, Parnaik, Rahul, Fleming, Alice, Banerjee, Abhik, Ferraz-de-Souza, Bruno, Délot, Emmanuèle C, Rodriguez-Fernandez, Imilce A, Braslavsky, Debora, Bergadá, Ignacio, Dell'Angelica, Esteban C, Nelson, Stanley F, Martinez-Agosto, Julian A, Achermann, John C, Vilain, Eric
Published in Nature genetics (01.07.2012)
Published in Nature genetics (01.07.2012)
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