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15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders
Hogart, Amber, Nagarajan, Raman P., Patzel, Katherine A., Yasui, Dag H., LaSalle, Janine M.
Published in Human molecular genetics (15.03.2007)
Published in Human molecular genetics (15.03.2007)
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Condensin and cohesin complexity: the expanding repertoire of functions
Wood, Andrew J., Severson, Aaron F., Meyer, Barbara J.
Published in Nature reviews. Genetics (01.06.2010)
Published in Nature reviews. Genetics (01.06.2010)
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Mutations in PYCR1 cause cutis laxa with progeroid features
Reversade, Bruno, Escande-Beillard, Nathalie, Dimopoulou, Aikaterini, Fischer, Björn, Chng, Serene C, Li, Yun, Shboul, Mohammad, Tham, Puay-Yoke, Kayserili, Hülya, Al-Gazali, Lihadh, Shahwan, Monzer, Brancati, Francesco, Lee, Hane, O'Connor, Brian D, Kegler, Mareen Schmidt-von, Merriman, Barry, Nelson, Stanley F, Masri, Amira, Alkazaleh, Fawaz, Guerra, Deanna, Ferrari, Paola, Nanda, Arti, Rajab, Anna, Markie, David, Gray, Mary, Nelson, John, Grix, Arthur, Sommer, Annemarie, Savarirayan, Ravi, Janecke, Andreas R, Steichen, Elisabeth, Sillence, David, Haußer, Ingrid, Budde, Birgit, Nürnberg, Gudrun, Nürnberg, Peter, Seemann, Petra, Kunkel, Désirée, Zambruno, Giovanna, Dallapiccola, Bruno, Schuelke, Markus, Robertson, Stephen, Hamamy, Hanan, Wollnik, Bernd, Van Maldergem, Lionel, Mundlos, Stefan, Kornak, Uwe
Published in Nature genetics (01.09.2009)
Published in Nature genetics (01.09.2009)
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Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population
Srour, Myriam, Schwartzentruber, Jeremy, Hamdan, Fadi F., Ospina, Luis H., Patry, Lysanne, Labuda, Damian, Massicotte, Christine, Dobrzeniecka, Sylvia, Capo-Chichi, José-Mario, Papillon-Cavanagh, Simon, Samuels, Mark E., Boycott, Kym M., Shevell, Michael I., Laframboise, Rachel, Désilets, Valérie, Maranda, Bruno, Rouleau, Guy A., Majewski, Jacek, Michaud, Jacques L.
Published in American journal of human genetics (06.04.2012)
Published in American journal of human genetics (06.04.2012)
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Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2
Garcia-Barceló, Maria-Mercè, Yeung, Ming-Yiu, Miao, Xiao-Ping, Tang, Clara Sze-Man, Chen, Guo, So, Man-Ting, Ngan, Elly Sau-Wai, Lui, Vincent Chi-Hang, Chen, Yan, Liu, Xue-Lai, Hui, Kenneth-Jeremy W.S., Li, Long, Guo, Wei-Hong, Sun, Xiao-Bin, Tou, Jin-Fa, Chan, Kin-Wai, Wu, Xuan-Zhao, Song, You-Qiang, Chan, Danny, Cheung, Kenneth, Chung, Patrick Ho-Yu, Wong, Kenneth Kak-Yuen, Sham, Pak-Chung, Cherny, Stacey S., Tam, Paul Kwong-Hang
Published in Human molecular genetics (15.07.2010)
Published in Human molecular genetics (15.07.2010)
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A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease
Buch, Stephan, Schafmayer, Clemens, Völzke, Henry, Becker, Christian, Franke, Andre, von Eller-Eberstein, Huberta, Kluck, Christian, Bässmann, Ingelore, Brosch, Mario, Lammert, Frank, Miquel, Juan Francisco, Nervi, Flavio, Wittig, Michael, Rosskopf, Dieter, Timm, Birgit, Höll, Christine, Seeger, Marcus, ElSharawy, Abdou, Lu, Tim, Egberts, Jan, Fändrich, Fred, Fölsch, Ulrich R, Krawczak, Michael, Schreiber, Stefan, Nürnberg, Peter, Tepel, Jürgen, Hampe, Jochen
Published in Nature genetics (01.08.2007)
Published in Nature genetics (01.08.2007)
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Adiponectin Concentrations: A Genome-wide Association Study
Jee, Sun Ha, Sull, Jae Woong, Lee, Jong-Eun, Shin, Chol, Park, Jongkeun, Kimm, Heejin, Cho, Eun-Young, Shin, Eun-Soon, Yun, Ji Eun, Park, Ji Wan, Kim, Sang Yeun, Lee, Sun Ju, Jee, Eun Jung, Baik, Inkyung, Kao, Linda, Yoon, Sungjoo Kim, Jang, Yangsoo, Beaty, Terri H.
Published in American journal of human genetics (08.10.2010)
Published in American journal of human genetics (08.10.2010)
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Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population
Saad, M., Lesage, S., Saint-Pierre, A., Corvol, J.-C., Zelenika, D., Lambert, J.-C., Vidailhet, M., Mellick, G. D., Lohmann, E., Durif, F., Pollak, P., Damier, P., Tison, F., Silburn, P. A., Tzourio, C., Forlani, S., Loriot, M.-A., Giroud, M., Helmer, C., Portet, F., Amouyel, P., Lathrop, M., Elbaz, A., Durr, A., Martinez, M., Brice, A., Agid, Y., Anheim, M., Bonnet, A.- M., Borg, M., Broussolle, E., Corvol, J.- C., Destee, A., Klebe, S., Penet, C., Rascol, O., Tranchant, C., Verin, M., Viallet, F.
Published in Human molecular genetics (01.02.2011)
Published in Human molecular genetics (01.02.2011)
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A set of differentially expressed miRNAs, including miR-30a-5p, act as post-transcriptional inhibitors of BDNF in prefrontal cortex
Mellios, Nikolaos, Huang, Hsien-Sung, Grigorenko, Anastasia, Rogaev, Evgeny, Akbarian, Schahram
Published in Human molecular genetics (01.10.2008)
Published in Human molecular genetics (01.10.2008)
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The quest for orthologs: finding the corresponding gene across genomes
Kuzniar, Arnold, van Ham, Roeland C.H.J., Pongor, Sándor, Leunissen, Jack A.M.
Published in Trends in genetics (01.11.2008)
Published in Trends in genetics (01.11.2008)
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Morphological evolution caused by many subtle-effect substitutions in regulatory DNA
Frankel, Nicolás, Erezyilmaz, Deniz F., McGregor, Alistair P., Wang, Shu, Payre, François, Stern, David L.
Published in Nature (London) (30.06.2011)
Published in Nature (London) (30.06.2011)
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Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis
Weraarpachai, Woranontee, Sasarman, Florin, Nishimura, Tamiko, Antonicka, Hana, Auré, Karine, Rötig, Agnès, Lombès, Anne, Shoubridge, Eric A.
Published in American journal of human genetics (13.01.2012)
Published in American journal of human genetics (13.01.2012)
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A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci
Okada, Yukinori, Kamatani, Yoichiro, Takahashi, Atsushi, Matsuda, Koichi, Hosono, Naoya, Ohmiya, Hiroko, Daigo, Yataro, Yamamoto, Kazuhiko, Kubo, Michiaki, Nakamura, Yusuke, Kamatani, Naoyuki
Published in Human molecular genetics (01.06.2010)
Published in Human molecular genetics (01.06.2010)
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WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome
Kim, Hyung-Goo, Ahn, Jang-Won, Kurth, Ingo, Ullmann, Reinhard, Kim, Hyun-Taek, Kulharya, Anita, Ha, Kyung-Soo, Itokawa, Yasuhide, Meliciani, Irene, Wenzel, Wolfgang, Lee, Deresa, Rosenberger, Georg, Ozata, Metin, Bick, David P., Sherins, Richard J., Nagase, Takahiro, Tekin, Mustafa, Kim, Soo-Hyun, Kim, Cheol-Hee, Ropers, Hans-Hilger, Gusella, James F., Kalscheuer, Vera, Choi, Cheol Yong, Layman, Lawrence C.
Published in American journal of human genetics (08.10.2010)
Published in American journal of human genetics (08.10.2010)
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Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities
Talkowski, Michael E., Maussion, Gilles, Crapper, Liam, Rosenfeld, Jill A., Blumenthal, Ian, Hanscom, Carrie, Chiang, Colby, Lindgren, Amelia, Pereira, Shahrin, Ruderfer, Douglas, Diallo, Alpha B., Lopez, Juan Pablo, Turecki, Gustavo, Chen, Elizabeth S., Gigek, Carolina, Harris, David J., Lip, Va, An, Yu, Biagioli, Marta, MacDonald, Marcy E., Lin, Michael, Haggarty, Stephen J., Sklar, Pamela, Purcell, Shaun, Kellis, Manolis, Schwartz, Stuart, Shaffer, Lisa G., Natowicz, Marvin R., Shen, Yiping, Morton, Cynthia C., Gusella, James F., Ernst, Carl
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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Kin selection is the key to altruism
Foster, Kevin R., Wenseleers, Tom, Ratnieks, Francis L.W.
Published in Trends in ecology & evolution (Amsterdam) (01.02.2006)
Published in Trends in ecology & evolution (Amsterdam) (01.02.2006)
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Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome
Campeau, Philippe M., Kim, Jaeseung C., Lu, James T., Schwartzentruber, Jeremy A., Abdul-Rahman, Omar A., Schlaubitz, Silke, Murdock, David M., Jiang, Ming-Ming, Lammer, Edward J., Enns, Gregory M., Rhead, William J., Rowland, Jon, Robertson, Stephen P., Cormier-Daire, Valérie, Bainbridge, Matthew N., Yang, Xiang-Jiao, Gingras, Marie-Claude, Gibbs, Richard A., Rosenblatt, David S., Majewski, Jacek, Lee, Brendan H.
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype
Potocki, Lorraine, Bi, Weimin, Treadwell-Deering, Diane, Carvalho, Claudia M.B., Eifert, Anna, Friedman, Ellen M., Glaze, Daniel, Krull, Kevin, Lee, Jennifer A., Lewis, Richard Alan, Mendoza-Londono, Roberto, Robbins-Furman, Patricia, Shaw, Chad, Shi, Xin, Weissenberger, George, Withers, Marjorie, Yatsenko, Svetlana A., Zackai, Elaine H., Stankiewicz, Pawel, Lupski, James R.
Published in American journal of human genetics (01.04.2007)
Published in American journal of human genetics (01.04.2007)
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