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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
Pandit, Bhaswati, Sarkozy, Anna, Pennacchio, Len A, Carta, Claudio, Oishi, Kimihiko, Martinelli, Simone, Pogna, Edgar A, Schackwitz, Wendy, Ustaszewska, Anna, Landstrom, Andrew, Bos, J Martijn, Ommen, Steve R, Esposito, Giorgia, Lepri, Francesca, Faul, Christian, Mundel, Peter, López Siguero, Juan P, Tenconi, Romano, Selicorni, Angelo, Rossi, Cesare, Mazzanti, Laura, Torrente, Isabella, Marino, Bruno, Digilio, Maria C, Zampino, Giuseppe, Ackerman, Michael J, Dallapiccola, Bruno, Tartaglia, Marco, Gelb, Bruce D
Published in Nature genetics (01.08.2007)
Published in Nature genetics (01.08.2007)
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A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk
Bouatia-Naji, Nabila, Bonnefond, Amélie, Cavalcanti-Proença, Christine, Sparsø, Thomas, Holmkvist, Johan, Marchand, Marion, Delplanque, Jérôme, Lobbens, Stéphane, Rocheleau, Ghislain, Durand, Emmanuelle, De Graeve, Franck, Chèvre, Jean-Claude, Borch-Johnsen, Knut, Hartikainen, Anna-Liisa, Ruokonen, Aimo, Tichet, Jean, Marre, Michel, Weill, Jacques, Heude, Barbara, Tauber, Maithé, Lemaire, Katleen, Schuit, Frans, Elliott, Paul, Jørgensen, Torben, Charpentier, Guillaume, Hadjadj, Samy, Cauchi, Stéphane, Vaxillaire, Martine, Sladek, Robert, Visvikis-Siest, Sophie, Balkau, Beverley, Lévy-Marchal, Claire, Pattou, François, Meyre, David, Blakemore, Alexandra I F, Jarvelin, Marjo-Riita, Walley, Andrew J, Hansen, Torben, Dina, Christian, Pedersen, Oluf, Froguel, Philippe
Published in Nature genetics (01.01.2009)
Published in Nature genetics (01.01.2009)
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Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis
Rosendahl, Jonas, Witt, Heiko, Szmola, Richárd, Bhatia, Eesh, Ózsvári, Béla, Landt, Olfert, Schulz, Hans-Ulrich, Gress, Thomas M, Pfützer, Roland, Löhr, Matthias, Kovacs, Peter, Blüher, Matthias, Stumvoll, Michael, Choudhuri, Gourdas, Hegyi, Péter, te Morsche, René HM, Drenth, Joost PH, Truninger, Kaspar, Macek, Milan, Puhl, Gero, Witt, Ulrike, Schmidt, Hartmut, Büning, Carsten, Ockenga, Johann, Kage, Andreas, Groneberg, David Alexander, Nickel, Renate, Berg, Thomas, Wiedenmann, Bertram, Bödeker, Hans, Keim, Volker, Mössner, Joachim, Teich, Niels, Sahin-Tóth, Miklós
Published in Nature genetics (01.01.2008)
Published in Nature genetics (01.01.2008)
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Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia
Rung, Johan, Cauchi, Stéphane, Albrechtsen, Anders, Shen, Lishuang, Rocheleau, Ghislain, Cavalcanti-Proença, Christine, Bacot, François, Balkau, Beverley, Belisle, Alexandre, Borch-Johnsen, Knut, Charpentier, Guillaume, Dina, Christian, Durand, Emmanuelle, Elliott, Paul, Hadjadj, Samy, Järvelin, Marjo-Riitta, Laitinen, Jaana, Lauritzen, Torsten, Marre, Michel, Mazur, Alexander, Meyre, David, Montpetit, Alexandre, Pisinger, Charlotta, Posner, Barry, Poulsen, Pernille, Pouta, Anneli, Prentki, Marc, Ribel-Madsen, Rasmus, Ruokonen, Aimo, Sandbaek, Anelli, Serre, David, Tichet, Jean, Vaxillaire, Martine, Wojtaszewski, Jørgen F P, Vaag, Allan, Hansen, Torben, Polychronakos, Constantin, Pedersen, Oluf, Froguel, Philippe, Sladek, Robert
Published in Nature genetics (01.10.2009)
Published in Nature genetics (01.10.2009)
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The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes
Wallace, Chris, Smyth, Deborah J, Maisuria-Armer, Meeta, Walker, Neil M, Todd, John A, Clayton, David G
Published in Nature genetics (01.01.2010)
Published in Nature genetics (01.01.2010)
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New sequence variants associated with bone mineral density
Styrkarsdottir, Unnur, Halldorsson, Bjarni V, Gretarsdottir, Solveig, Gudbjartsson, Daniel F, Walters, G Bragi, Ingvarsson, Thorvaldur, Jonsdottir, Thorbjorg, Saemundsdottir, Jona, Snorradóttir, Steinunn, Center, Jacqueline R, Nguyen, Tuan V, Alexandersen, Peter, Gulcher, Jeffrey R, Eisman, John A, Christiansen, Claus, Sigurdsson, Gunnar, Kong, Augustine, Thorsteinsdottir, Unnur, Stefansson, Kari
Published in Nature genetics (01.01.2009)
Published in Nature genetics (01.01.2009)
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New insights into the history of rice domestication
Kovach, Michael J., Sweeney, Megan T., McCouch, Susan R.
Published in Trends in genetics (01.11.2007)
Published in Trends in genetics (01.11.2007)
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Gene Copy-Number Variation and Associated Polymorphisms of Complement Component C4 in Human Systemic Lupus Erythematosus (SLE): Low Copy Number Is a Risk Factor for and High Copy Number Is a Protective Factor against SLE Susceptibility in European Americans
Yang, Yan, Chung, Erwin K., Wu, Yee Ling, Savelli, Stephanie L., Nagaraja, Haikady N., Zhou, Bi, Hebert, Maddie, Jones, Karla N., Shu, Yaoling, Kitzmiller, Kathryn, Blanchong, Carol A., McBride, Kim L., Higgins, Gloria C., Rennebohm, Robert M., Rice, Robert R., Hackshaw, Kevin V., Roubey, Robert A.S., Grossman, Jennifer M., Tsao, Betty P., Birmingham, Daniel J., Rovin, Brad H., Hebert, Lee A., Yung Yu, C.
Published in American journal of human genetics (01.06.2007)
Published in American journal of human genetics (01.06.2007)
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Allelic Skewing of DNA Methylation Is Widespread across the Genome
Schalkwyk, Leonard C., Meaburn, Emma L., Smith, Rebecca, Dempster, Emma L., Jeffries, Aaron R., Davies, Matthew N., Plomin, Robert, Mill, Jonathan
Published in American journal of human genetics (12.02.2010)
Published in American journal of human genetics (12.02.2010)
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Genetic–epigenetic interaction modulates µ-opioid receptor regulation
Oertel, Bruno G., Doehring, Alexandra, Roskam, Bianca, Kettner, Mattias, Hackmann, Nadja, Ferreirós, Nerea, Schmidt, Peter H., Lötsch, Jörn
Published in Human molecular genetics (01.11.2012)
Published in Human molecular genetics (01.11.2012)
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Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay
Burnside, Rachel D., Pasion, Romela, Mikhail, Fady M., Carroll, Andrew J., Robin, Nathaniel H., Youngs, Erin L., Gadi, Inder K., Keitges, Elizabeth, Jaswaney, Vikram L., Papenhausen, Peter R., Potluri, Venkateswara R., Risheg, Hiba, Rush, Brooke, Smith, Janice L., Schwartz, Stuart, Tepperberg, James H., Butler, Merlin G.
Published in Human genetics (01.10.2011)
Published in Human genetics (01.10.2011)
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Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene
Merner, Nancy D., Hodgkinson, Kathy A., Haywood, Annika F.M., Connors, Sean, French, Vanessa M., Drenckhahn, Jörg-Detlef, Kupprion, Christine, Ramadanova, Kalina, Thierfelder, Ludwig, McKenna, William, Gallagher, Barry, Morris-Larkin, Lynn, Bassett, Anne S., Parfrey, Patrick S., Young, Terry-Lynn
Published in American journal of human genetics (01.04.2008)
Published in American journal of human genetics (01.04.2008)
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Functional Analysis of Genetic Variation in Catechol-O-Methyltransferase ( COMT): Effects on mRNA, Protein, and Enzyme Activity in Postmortem Human Brain
Chen, Jingshan, Lipska, Barbara K., Halim, Nader, Ma, Quang D., Matsumoto, Mitsuyuki, Melhem, Samer, Kolachana, Bhaskar S., Hyde, Thomas M., Herman, Mary M., Apud, Jose, Egan, Michael F., Kleinman, Joel E., Weinberger, Daniel R.
Published in American journal of human genetics (01.11.2004)
Published in American journal of human genetics (01.11.2004)
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Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia
Tesson, Christelle, Nawara, Magdalena, Salih, Mustafa A.M., Rossignol, Rodrigue, Zaki, Maha S., Al Balwi, Mohammed, Schule, Rebecca, Mignot, Cyril, Obre, Emilie, Bouhouche, Ahmed, Santorelli, Filippo M., Durand, Christelle M., Oteyza, Andrés Caballero, El-Hachimi, Khalid H., Al Drees, Abdulmajeed, Bouslam, Naima, Lamari, Foudil, Elmalik, Salah A., Kabiraj, Mohammad M., Seidahmed, Mohammed Z., Esteves, Typhaine, Gaussen, Marion, Monin, Marie-Lorraine, Gyapay, Gabor, Lechner, Doris, Gonzalez, Michael, Depienne, Christel, Mochel, Fanny, Lavie, Julie, Schols, Ludger, Lacombe, Didier, Yahyaoui, Mohamed, Al Abdulkareem, Ibrahim, Zuchner, Stephan, Yamashita, Atsushi, Benomar, Ali, Goizet, Cyril, Durr, Alexandra, Gleeson, Joseph G., Darios, Frederic, Brice, Alexis, Stevanin, Giovanni
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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NMNAT1 mutations cause Leber congenital amaurosis
Falk, Marni J, Zhang, Qi, Nakamaru-Ogiso, Eiko, Kannabiran, Chitra, Fonseca-Kelly, Zoe, Chakarova, Christina, Audo, Isabelle, Mackay, Donna S, Zeitz, Christina, Borman, Arundhati Dev, Staniszewska, Magdalena, Shukla, Rachna, Palavalli, Lakshmi, Mohand-Said, Saddek, Waseem, Naushin H, Jalali, Subhadra, Perin, Juan C, Place, Emily, Ostrovsky, Julian, Xiao, Rui, Bhattacharya, Shomi S, Consugar, Mark, Webster, Andrew R, Sahel, José-Alain, Moore, Anthony T, Berson, Eliot L, Liu, Qin, Gai, Xiaowu, Pierce, Eric A
Published in Nature genetics (01.09.2012)
Published in Nature genetics (01.09.2012)
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Microdeletions of 3q29 Confer High Risk for Schizophrenia
Mulle, Jennifer Gladys, Dodd, Anne F., McGrath, John A., Wolyniec, Paula S., Mitchell, Adele A., Shetty, Amol C., Sobreira, Nara L., Valle, David, Rudd, M. Katharine, Satten, Glen, Cutler, David J., Pulver, Ann E., Warren, Stephen T.
Published in American journal of human genetics (13.08.2010)
Published in American journal of human genetics (13.08.2010)
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Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background
Hudson, Gavin, Carelli, Valerio, Spruijt, Liesbeth, Gerards, Mike, Mowbray, Catherine, Achilli, Alessandro, Pyle, Angela, Elson, Joanna, Howell, Neil, La Morgia, Chiara, Valentino, Maria Lucia, Huoponen, Kirsi, Savontaus, Marja-Liisa, Nikoskelainen, Eeva, Sadun, Alfredo A., Salomao, Solange R., Belfort, Rubens, Griffiths, Philip, Man, Patrick Yu Wai, de Coo, Rene F.M., Horvath, Rita, Zeviani, Massimo, Smeets, Hubert J.T., Torroni, Antonio, Chinnery, Patrick F.
Published in American journal of human genetics (01.08.2007)
Published in American journal of human genetics (01.08.2007)
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Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study
Le Quesne Stabej, Polona, Saihan, Zubin, Rangesh, Nell, Steele-Stallard, Heather B, Ambrose, John, Coffey, Alison, Emmerson, Jenny, Haralambous, Elene, Hughes, Yasmin, Steel, Karen P, Luxon, Linda M, Webster, Andrew R, Bitner-Glindzicz, Maria
Published in Journal of medical genetics (01.01.2012)
Published in Journal of medical genetics (01.01.2012)
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A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization
Arking, Dan E, Pfeufer, Arne, Post, Wendy, Kao, W H Linda, Newton-Cheh, Christopher, Ikeda, Morna, West, Kristen, Kashuk, Carl, Akyol, Mahmut, Perz, Siegfried, Jalilzadeh, Shapour, Illig, Thomas, Gieger, Christian, Guo, Chao-Yu, Larson, Martin G, Wichmann, H Erich, Marbán, Eduardo, O'Donnell, Christopher J, Hirschhorn, Joel N, Kääb, Stefan, Spooner, Peter M, Meitinger, Thomas, Chakravarti, Aravinda
Published in Nature genetics (01.06.2006)
Published in Nature genetics (01.06.2006)
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