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Genetic variants in human CLOCK associate with total energy intake and cytokine sleep factors in overweight subjects (GOLDN population)
Garaulet, Marta, Lee, Yu-Chi, Shen, Jian, Parnell, Laurence D, Arnett, Donna K, Tsai, Michael Y, Lai, Chao-Qiang, Ordovas, Jose M
Published in European journal of human genetics : EJHG (01.03.2010)
Published in European journal of human genetics : EJHG (01.03.2010)
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Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity
Mencarelli, M., Dubern, B., Alili, R., Maestrini, S., Benajiba, L., Tagliaferri, M., Galan, P., Rinaldi, M., Simon, C., Tounian, P., Hercberg, S., Liuzzi, A., Di Blasio, A. M., Clement, K.
Published in Human molecular genetics (15.01.2011)
Published in Human molecular genetics (15.01.2011)
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New surfactant protein C gene mutations associated with diffuse lung disease
Guillot, L, Epaud, R, Thouvenin, G, Jonard, L, Mohsni, A, Couderc, R, Counil, F, de Blic, J, Taam, R A, Le Bourgeois, M, Reix, P, Flamein, F, Clement, A, Feldmann, D
Published in Journal of medical genetics (01.07.2009)
Published in Journal of medical genetics (01.07.2009)
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Phenylbutyrate therapy for maple syrup urine disease
Brunetti-Pierri, Nicola, Lanpher, Brendan, Erez, Ayelet, Ananieva, Elitsa A., Islam, Mohammad, Marini, Juan C., Sun, Qin, Yu, Chunli, Hegde, Madhuri, Li, Jun, Wynn, R. Max, Chuang, David T., Hutson, Susan, Lee, Brendan
Published in Human molecular genetics (15.02.2011)
Published in Human molecular genetics (15.02.2011)
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Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability
Pagnamenta, Alistair T, Khan, Hameed, Walker, Susan, Gerrelli, Dianne, Wing, Kirsty, Bonaglia, Maria Clara, Giorda, Roberto, Berney, Tom, Mani, Elisa, Molteni, Massimo, Pinto, Dalila, Le Couteur, Ann, Hallmayer, Joachim, Sutcliffe, James S, Szatmari, Peter, Paterson, Andrew D, Scherer, Stephen W, Vieland, Veronica J, Monaco, Anthony P
Published in Journal of medical genetics (01.01.2011)
Published in Journal of medical genetics (01.01.2011)
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Polygenic determinants of severe hypertriglyceridemia
Wang, Jian, Ban, Matthew R., Zou, Guang Yong, Cao, Henian, Lin, Tim, Kennedy, Brooke A., Anand, Sonia, Yusuf, Salim, Huff, Murray W., Pollex, Rebecca L., Hegele, Robert A.
Published in Human molecular genetics (15.09.2008)
Published in Human molecular genetics (15.09.2008)
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Variant between CPT1B and CHKB associated with susceptibility to narcolepsy
Miyagawa, Taku, Kawashima, Minae, Nishida, Nao, Ohashi, Jun, Kimura, Ryosuke, Fujimoto, Akihiro, Shimada, Mihoko, Morishita, Shinichi, Shigeta, Takashi, Lin, Ling, Hong, Seung-Chul, Faraco, Juliette, Shin, Yoon-Kyung, Jeong, Jong-Hyun, Okazaki, Yuji, Tsuji, Shoji, Honda, Makoto, Honda, Yutaka, Mignot, Emmanuel, Tokunaga, Katsushi
Published in Nature genetics (01.11.2008)
Published in Nature genetics (01.11.2008)
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Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition
Hauke, Jan, Riessland, Markus, Lunke, Sebastian, Eyüpoglu, Ilker Y., Blümcke, Ingmar, El-Osta, Assam, Wirth, Brunhilde, Hahnen, Eric
Published in Human molecular genetics (15.01.2009)
Published in Human molecular genetics (15.01.2009)
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CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses
Conley, Yvette P., Jakobsdottir, Johanna, Mah, Tammy, Weeks, Daniel E., Klein, Ronald, Kuller, Lewis, Ferrell, Robert E., Gorin, Michael B.
Published in Human molecular genetics (01.11.2006)
Published in Human molecular genetics (01.11.2006)
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CHRM2 gene predisposes to alcohol dependence, drug dependence and affective disorders: results from an extended case–control structured association study
Luo, Xingguang, Kranzler, Henry R., Zuo, Lingjun, Wang, Shuang, Blumberg, Hilary P., Gelernter, Joel
Published in Human molecular genetics (15.08.2005)
Published in Human molecular genetics (15.08.2005)
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HLA-DRB10401 and HLA-DRB10408 Are Strongly Associated with the Development of Antibodies against Interferon-β Therapy in Multiple Sclerosis
HOFFMANN, Steve, CEPOK, Sabine, HEMMER, Bernhard, GRUMMEL, Verena, LEHMANN-HORN, Klaus, HACKERMUELLER, Jörg, STADLER, Peter F, HARTUNG, Hans-Peter, BERTHELE, Achim, DEISENHAMMER, Florian, WASMUTH, Ralf
Published in American journal of human genetics (01.08.2008)
Published in American journal of human genetics (01.08.2008)
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Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS
Zhang, Feng, Potocki, Lorraine, Sampson, Jacinda B., Liu, Pengfei, Sanchez-Valle, Amarilis, Robbins-Furman, Patricia, Navarro, Alicia Delicado, Wheeler, Patricia G., Spence, J. Edward, Brasington, Campbell K., Withers, Marjorie A., Lupski, James R.
Published in American journal of human genetics (12.03.2010)
Published in American journal of human genetics (12.03.2010)
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Systematic changes in gene expression in postmortem human brains associated with tissue pH and terminal medical conditions
Li, Jun Z., Vawter, Marquis P., Walsh, David M., Tomita, Hiroaki, Evans, Simon J., Choudary, Prabhakara V., Lopez, Juan F., Avelar, Abigail, Shokoohi, Vida, Chung, Tisha, Mesarwi, Omar, Jones, Edward G., Watson, Stanley J., Akil, Huda, Bunney, William E., Myers, Richard M.
Published in Human molecular genetics (15.03.2004)
Published in Human molecular genetics (15.03.2004)
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Fine scale mapping of the breast cancer 16q12 locus
Udler, Miriam S., Ahmed, Shahana, Healey, Catherine S., Meyer, Kerstin, Struewing, Jeffrey, Maranian, Melanie, Kwon, Erika M., Zhang, Jinghui, Tyrer, Jonathan, Karlins, Eric, Platte, Radka, Kalmyrzaev, Bolot, Dicks, Ed, Field, Helen, Maia, Ana-Teresa, Prathalingam, Radhika, Teschendorff, Andrew, McArthur, Stewart, Doody, David R., Luben, Robert, Caldas, Carlos, Bernstein, Leslie, Kolonel, Laurence K., Henderson, Brian E., Wu, Anna H., Le Marchand, Loic, Ursin, Giske, Press, Michael F., Lindblom, Annika, Margolin, Sara, Shen, Chen-Yang, Yang, Show-Lin, Hsiung, Chia-Ni, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Malone, Kathleen E., Haiman, Christopher A., Pharoah, Paul D., Ponder, Bruce A.J., Ostrander, Elaine A., Easton, Douglas F., Dunning, Alison M.
Published in Human molecular genetics (15.06.2010)
Published in Human molecular genetics (15.06.2010)
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Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss
Li, Zhiyuan, Li, Ronghua, Chen, Jianfu, Liao, Zhisu, Zhu, Yi, Qian, Yaping, Xiong, Sudao, Heman-Ackah, Selena, Wu, Jianbo, Choo, Daniel I., Guan, Min-Xin
Published in Human genetics (01.06.2005)
Published in Human genetics (01.06.2005)
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Stepwise replication identifies a low-producing lymphotoxin-α allele as a major risk factor for early-onset leprosy
Alcaïs, Alexandre, Alter, Andrea, Antoni, Guillemette, Orlova, Marianna, Van Thuc, Nguyen, Singh, Meenakshi, Vanderborght, Patrícia R, Katoch, Kiran, Mira, Marcelo T, Thai, Vu Hong, Huong, Ngyuen Thu, Ba, Nguyen Ngoc, Moraes, Milton, Mehra, Narinder, Schurr, Erwin, Abel, Laurent
Published in Nature genetics (01.04.2007)
Published in Nature genetics (01.04.2007)
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Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease
Caprioli, Jessica, Castelletti, Federica, Bucchioni, Sara, Bettinaglio, Paola, Bresin, Elena, Pianetti, Gaia, Gamba, Sara, Brioschi, Simona, Daina, Erica, Remuzzi, Giuseppe, Noris, Marina
Published in Human molecular genetics (15.12.2003)
Published in Human molecular genetics (15.12.2003)
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Endocannabinoid receptor 1 gene variations increase risk for obesity and modulate body mass index in European populations
Benzinou, Michael, Chèvre, Jean-Claude, Ward, Kirsten J., Lecoeur, Cécile, Dina, Christian, Lobbens, Stephane, Durand, Emmanuelle, Delplanque, Jérome, Horber, Fritz F., Heude, Barbara, Balkau, Beverley, Borch-Johnsen, Knut, Jørgensen, Torben, Hansen, Torben, Pedersen, Oluf, Meyre, David, Froguel, Philippe
Published in Human molecular genetics (01.07.2008)
Published in Human molecular genetics (01.07.2008)
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Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function
Paciorkowski, Alex R, Thio, Liu Lin, Rosenfeld, Jill A, Gajecka, Marzena, Gurnett, Christina A, Kulkarni, Shashikant, Chung, Wendy K, Marsh, Eric D, Gentile, Mattia, Reggin, James D, Wheless, James W, Balasubramanian, Sandhya, Kumar, Ravinesh, Christian, Susan L, Marini, Carla, Guerrini, Renzo, Maltsev, Natalia, Shaffer, Lisa G, Dobyns, William B
Published in European journal of human genetics : EJHG (01.12.2011)
Published in European journal of human genetics : EJHG (01.12.2011)
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