Human Genome Epidemiology Literature Finder
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Records 1 - 6 (of 6 Records) |
| Query Trace: Rare diseases[original query] |
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Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.
Orphanet journal of rare diseases 2011 6 (1): 52. Génin Emmanuelle, Schumacher Martin, Roujeau Jean-Claude, Naldi Luigi, Liss Yvonne, Kazma Rémi, Sekula Peggy, Hovnanian Alain, Mockenhaupt Ma |
| Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
Nature genetics 2013 Sep 45 (9): 1044-9. Bezzina Connie R, Barc Julien, Mizusawa Yuka, Remme Carol Ann, Gourraud Jean-Baptiste, Simonet Floriane, Verkerk Arie O, Schwartz Peter J, Crotti Lia, Dagradi Federica, Guicheney Pascale, Fressart Véronique, Leenhardt Antoine, Antzelevitch Charles, Bartkowiak Susan, Borggrefe Martin, Schimpf Rainer, Schulze-Bahr Eric, Zumhagen Sven, Behr Elijah R, Bastiaenen Rachel, Tfelt-Hansen Jacob, Olesen Morten Salling, Kääb Stefan, Beckmann Britt M, Weeke Peter, Watanabe Hiroshi, Endo Naoto, Minamino Tohru, Horie Minoru, Ohno Seiko, Hasegawa Kanae, Makita Naomasa, Nogami Akihiko, Shimizu Wataru, Aiba Takeshi, Froguel Philippe, Balkau Beverley, Lantieri Olivier, Torchio Margherita, Wiese Cornelia, Weber David, Wolswinkel Rianne, Coronel Ruben, Boukens Bas J, Bézieau Stéphane, Charpentier Eric, Chatel Stéphanie, Despres Aurore, Gros Françoise, Kyndt Florence, Lecointe Simon, Lindenbaum Pierre, Portero Vincent, Violleau Jade, Gessler Manfred, Tan Hanno L, Roden Dan M, Christoffels Vincent M, Le Marec Hervé, Wilde Arthur A, Probst Vincent, Schott Jean-Jacques, Dina Christian, Redon Richa |
| Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups.
Annals of the rheumatic diseases 2015 Sep . Rothwell Simon, Cooper Robert G, Lundberg Ingrid E, Miller Frederick W, Gregersen Peter K, Bowes John, Vencovsky Jiri, Danko Katalin, Limaye Vidya, Selva-O'Callaghan Albert, Hanna Michael G, Machado Pedro M, Pachman Lauren M, Reed Ann M, Rider Lisa G, Cobb Joanna, Platt Hazel, Molberg Øyvind, Benveniste Olivier, Mathiesen Pernille, Radstake Timothy, Doria Andrea, De Bleecker Jan, De Paepe Boel, Maurer Britta, Ollier William E, Padyukov Leonid, O'Hanlon Terrance P, Lee Annette, Amos Christopher I, Gieger Christian, Meitinger Thomas, Winkelmann Juliane, Wedderburn Lucy R, Chinoy Hector, Lamb Janine A, |
| Genome-wide association study in an admixed case series reveals IL12A as a new candidate in Behçet disease.
PloS one 2015 10 (3): e0119085. Kappen Jasper H, Medina-Gomez Carolina, van Hagen P Martin, Stolk Lisette, Estrada Karol, Rivadeneira Fernando, Uitterlinden Andre G, Stanford Miles R, Ben-Chetrit Eldat, Wallace Graham R, Soylu Merih, van Laar Jan A |
| Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans.
Orphanet journal of rare diseases 2021 May 16 (1): 228. Schwarm Christian, Gola Damian, Holtsche Maike M, Dieterich Anabelle, Bhandari Anita, Freitag Miriam, Nürnberg Peter, Toliat Mohammad, Lieb Wolfgang, Wittig Michael, Franke André, Worm Margitta, Sticherling Michael, Ehrchen Jan, Günther Claudia, Gläser Regine, Peitsch Wiebke K, Sárdy Miklós, Eming Rüdiger, Hertl Michael, Benoit Sandrine, Goebeler Matthias, Pföhler Claudia, Kunz Manfred, Kreuter Alexander, van Beek Nina, Erdmann Jeanette, Busch Hauke, Zillikens Detlef, Sadik Christian D, Hirose Misa, König Inke R, Schmidt Enno, Ibrahim Saleh M, |
| GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling.
Human molecular genetics 2022 5 31 (23): 3967-3974. Narumi Satoshi, Opitz Robert, Nagasaki Keisuke, Muroya Koji, Asakura Yumi, Adachi Masanori, Abe Kiyomi, Sugisawa Chiho, Kühnen Peter, Ishii Tomohiro, Nöthen Markus M, Krude Heiko, Hasegawa Tomono |
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