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Identification of DIO2 as a new susceptibility locus for symptomatic osteoarthritis
Meulenbelt, Ingrid, Min, Josine L., Bos, Steffan, Riyazi, Naghmeh, Houwing-Duistermaat, Jeanine J., van der Wijk, Henk-Jan, Kroon, Herman M., Nakajima, Masahiro, Ikegawa, Shiro, Uitterlinden, André G., van Meurs, Joyce B.J., van der Deure, Wendy M., Visser, Theo J., Seymour, Albert B., Lakenberg, Nico, van der Breggen, Ruud, Kremer, Dennis, van Duijn, Cornelia M., Kloppenburg, Margreet, Loughlin, John, Slagboom, P. Eline
Published in Human molecular genetics (15.06.2008)
Published in Human molecular genetics (15.06.2008)
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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
Doherty, D, Parisi, M A, Finn, L S, Gunay-Aygun, M, Al-Mateen, M, Bates, D, Clericuzio, C, Demir, H, Dorschner, M, van Essen, A J, Gahl, W A, Gentile, M, Gorden, N T, Hikida, A, Knutzen, D, Özyurek, H, Phelps, I, Rosenthal, P, Verloes, A, Weigand, H, Chance, P F, Dobyns, W B, Glass, I A
Published in Journal of medical genetics (01.01.2010)
Published in Journal of medical genetics (01.01.2010)
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Variants in the CD36 gene associate with the metabolic syndrome and high-density lipoprotein cholesterol
Love-Gregory, Latisha, Sherva, Richard, Sun, Lingwei, Wasson, Jon, Schappe, Timothy, Doria, Alessandro, Rao, D.C., Hunt, Steven C., Klein, Samuel, Neuman, Rosalind J., Permutt, M. Alan, Abumrad, Nada A.
Published in Human molecular genetics (01.06.2008)
Published in Human molecular genetics (01.06.2008)
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Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1
Monemi, Sharareh, Spaeth, George, DaSilva, Alexander, Popinchalk, Samuel, Ilitchev, Elena, Liebmann, Jeffrey, Ritch, Robert, Héon, Elise, Crick, Ronald Pitts, Child, Anne, Sarfarazi, Mansoor
Published in Human molecular genetics (15.03.2005)
Published in Human molecular genetics (15.03.2005)
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Renal Aplasia in Humans Is Associated with RET Mutations
Skinner, Michael A., Safford, Shawn D., Reeves, Justin G., Jackson, Margaret E., Freemerman, Alex J.
Published in American journal of human genetics (01.02.2008)
Published in American journal of human genetics (01.02.2008)
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Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA
Low, Siew-Kee, Takahashi, Atsushi, Cha, Pei-Chieng, Zembutsu, Hitoshi, Kamatani, Naoyuki, Kubo, Michiaki, Nakamura, Yusuke
Published in Human molecular genetics (01.05.2012)
Published in Human molecular genetics (01.05.2012)
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Heritable rather than age-related environmental and stochastic factors dominate variation in DNA methylation of the human IGF2/H19 locus
Heijmans, Bastiaan T., Kremer, Dennis, Tobi, Elmar W., Boomsma, Dorret I., Slagboom, P. Eline
Published in Human molecular genetics (01.03.2007)
Published in Human molecular genetics (01.03.2007)
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Genetic control of the alternative pathway of complement in humans and age-related macular degeneration
Hecker, Laura A., Edwards, Albert O., Ryu, Euijung, Tosakulwong, Nirubol, Baratz, Keith H., Brown, William L., Issa, Peter Charbel, Scholl, Hendrik P., Pollok-Kopp, Beatrix, Schmid-Kubista, Katharina E., Bailey, Kent R., Oppermann, Martin
Published in Human molecular genetics (01.01.2010)
Published in Human molecular genetics (01.01.2010)
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Mutations in the calcium-related gene IL1RAPL1 are associated with autism
Piton, Amélie, Michaud, Jacques L., Peng, Huashan, Aradhya, Swaroop, Gauthier, Julie, Mottron, Laurent, Champagne, Nathalie, Lafrenière, Ronald G., Hamdan, Fadi F., Joober, Ridha, Fombonne, Eric, Marineau, Claude, Cossette, Patrick, Dubé, Marie-Pierre, Haghighi, Pejmun, Drapeau, Pierre, Barker, Philip A., Carbonetto, Salvatore, Rouleau, Guy A.
Published in Human molecular genetics (15.12.2008)
Published in Human molecular genetics (15.12.2008)
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Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin
Huppke, Peter, Brendel, Cornelia, Kalscheuer, Vera, Korenke, Georg Christoph, Marquardt, Iris, Freisinger, Peter, Christodoulou, John, Hillebrand, Merle, Pitelet, Gaele, Wilson, Callum, Gruber-Sedlmayr, Ursula, Ullmann, Reinhard, Haas, Stefan, Elpeleg, Orly, Nürnberg, Gudrun, Nürnberg, Peter, Dad, Shzeena, Møller, Lisbeth Birk, Kaler, Stephen G., Gärtner, Jutta
Published in American journal of human genetics (13.01.2012)
Published in American journal of human genetics (13.01.2012)
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Pleiotropic scaling of gene effects and the ‘cost of complexity’
Wagner, Günter P., Kenney-Hunt, Jane P., Pavlicev, Mihaela, Peck, Joel R., Waxman, David, Cheverud, James M.
Published in Nature (27.03.2008)
Published in Nature (27.03.2008)
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A Genome-wide Study Reveals Copy Number Variants Exclusive to Childhood Obesity Cases
Glessner, Joseph T., Bradfield, Jonathan P., Wang, Kai, Takahashi, Nagahide, Zhang, Haitao, Sleiman, Patrick M., Mentch, Frank D., Kim, Cecilia E., Hou, Cuiping, Thomas, Kelly A., Garris, Maria L., Deliard, Sandra, Frackelton, Edward C., Otieno, F. George, Zhao, Jianhua, Chiavacci, Rosetta M., Li, Mingyao, Buxbaum, Joseph D., Berkowitz, Robert I., Hakonarson, Hakon, Grant, Struan F.A.
Published in American journal of human genetics (12.11.2010)
Published in American journal of human genetics (12.11.2010)
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Loss of the imprinted snoRNA mbii-52 leads to increased 5htr2c pre-RNA editing and altered 5HT2CR-mediated behaviour
Doe, Christine M., Relkovic, Dinko, Garfield, Alastair S., Dalley, Jeffrey W., Theobald, David E.H., Humby, Trevor, Wilkinson, Lawrence S., Isles, Anthony R.
Published in Human molecular genetics (15.06.2009)
Published in Human molecular genetics (15.06.2009)
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The evolution and diversity of kinetoplastid flagellates
Simpson, Alastair G.B., Stevens, Jamie R., Lukeš, Julius
Published in Trends in parasitology (01.04.2006)
Published in Trends in parasitology (01.04.2006)
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Paternal age at birth is an important determinant of offspring telomere length
De Meyer, Tim, Rietzschel, Ernst R., De Buyzere, Marc L., De Bacquer, Dirk, Van Criekinge, Wim, De Backer, Guy G., Gillebert, Thierry C., Van Oostveldt, Patrick, Bekaert, Sofie
Published in Human molecular genetics (15.12.2007)
Published in Human molecular genetics (15.12.2007)
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A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome
Caputo, Viviana, Cianetti, Luciano, Niceta, Marcello, Carta, Claudio, Ciolfi, Andrea, Bocchinfuso, Gianfranco, Carrani, Eugenio, Dentici, Maria Lisa, Biamino, Elisa, Belligni, Elga, Garavelli, Livia, Boccone, Loredana, Melis, Daniela, Andria, Generoso, Gelb, Bruce D., Stella, Lorenzo, Silengo, Margherita, Dallapiccola, Bruno, Tartaglia, Marco
Published in American journal of human genetics (13.01.2012)
Published in American journal of human genetics (13.01.2012)
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Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome
Malan, Valérie, Rajan, Diana, Thomas, Sophie, Shaw, Adam C., Louis dit Picard, Hélène, Layet, Valérie, Till, Marianne, van Haeringen, Arie, Mortier, Geert, Nampoothiri, Sheela, Pušeljić, Silvija, Legeai-Mallet, Laurence, Carter, Nigel P., Vekemans, Michel, Munnich, Arnold, Hennekam, Raoul C., Colleaux, Laurence, Cormier-Daire, Valérie
Published in American journal of human genetics (13.08.2010)
Published in American journal of human genetics (13.08.2010)
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Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction
Amiel, Jeanne, Rio, Marlène, Pontual, Loïc de, Redon, Richard, Malan, Valérie, Boddaert, Nathalie, Plouin, Perrine, Carter, Nigel P., Lyonnet, Stanislas, Munnich, Arnold, Colleaux, Laurence
Published in American journal of human genetics (01.05.2007)
Published in American journal of human genetics (01.05.2007)
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