Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: BBS4[original query] |
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Significant association between a silent polymorphism in the neuromedin B gene and body weight in German children and adolescents. Acta diabetologica 2000 37 (2): 93-101. Oeffner F, Bornholdt D, Ziegler A, Hinney A, Görg T, Gerber G, Goldschmidt H P, Siegfried W, Wright A, Hebebrand J, Grzeschik K |
Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians. Diabetes 2006 Oct 55 (10): 2876-82. Benzinou Michael, Walley Andrew, Lobbens Stephan, Charles Marie-Aline, Jouret Béatrice, Fumeron Frédéric, Balkau Beverley, Meyre David, Froguel Philip |
BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. Human mutation 2009 Jul 30 (7): E737-46. Bin Jenea, Madhavan Jagadeesan, Ferrini Walter, Mok Calvin A, Billingsley Gail, Héon Eli |
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. American journal of human genetics 2016 Aug 99 (2): 318-36. Lindstrand Anna, Frangakis Stephan, Carvalho Claudia M B, Richardson Ellen B, McFadden Kelsey A, Willer Jason R, Pehlivan Davut, Liu Pengfei, Pediaditakis Igor L, Sabo Aniko, Lewis Richard Alan, Banin Eyal, Lupski James R, Davis Erica E, Katsanis Nichol |
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation. Journal of nephrology 2021 5 34 (6): 1855-1874. Zacchia Miriam, Blanco Francesca Del Vecchio, Trepiccione Francesco, Blasio Giancarlo, Torella Annalaura, Melluso Andrea, Capolongo Giovanna, Pollastro Rosa Maria, Piluso Giulio, Di Iorio Valentina, Simonelli Francesca, Viggiano Davide, Perna Alessandra, Nigro Vincenzo, Capasso Giovambattis |
A scan of all coding region variants of the human genome, identifies 13q12.2-rs9579139 and 15q24.1-rs2277598 as novel risk loci for pancreatic ductal adenocarcinoma. Carcinogenesis 2023 9 . Matteo Giaccherini, Leonardo Gori, Manuel Gentiluomo, Riccardo Farinella, Klara Cervena, Jurgita Skieceviciene, Frederike Dijk, Gabriele Capurso, Antonis Vezakis, Livia Archibugi, Roger Chammas, Tamás Hussein, Francesca Tavano, Péter Hegyi, Martin Lovecek, Jakob Izbicki, Hermann Brenner, Beatrice Mohelnikova-Duchonova, Giuseppe Dell'Anna, Juozas Kupcinskas, Stefano Ermini, Mateus Nóbrega Aoki, John P Neoptolemos, Maria Gazouli, Claudio Pasquali, Raffaele Pezzilli, Renata Talar-Wojnarowska, Martin Oliverius, Mohammed Al-Saeedi, Maurizio Lucchesi, Niccolò Furbetta, Silvia Carrara, Casper H J van Eijck, Almantas Maleckas, Anna Caterina Milanetto, Rita T Lawlor, Ben Schöttker, Ugo Boggi, Luca Morelli, Laura Ginocchi, Ruggero Ponz de Leon, Cosimo Sperti, Alessandro Zerbi, Paolo Giorgio Arcidiacono, Faik G Uzunoglu, Stefania Bunduc, Bernd Holleczek, Domenica Gioffreda, Ewa Ma?ecka-Wojciesko, Mindaugas Kiudelis, Andrea Szentesi, Hanneke W M van Laarhoven, Pavel Soucek, Mara Götz, Bálint Er?ss, Giulia Martina Cavestro, Daniela Basso, Francesco Perri, Stefano Landi, Federico Canzian, Daniele Cam |
Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants. American journal of medical genetics. Part A 2023 6 . Sheraz Khan, Ina Ofelia Foc?a, Magdalena Budi?teanu, Cristina Stoica, Florina Nedelea, Lauren?iu Bohîl?ea, Lavinia Caba, L?cr?mioara Butnariu, Monica Pânzaru, Cristina Rusu, Claudia Jurc?, Adela Chirita-Emandi, Claudia B?nescu, Wasim Abbas, Azita Sadeghpour, Shahid Mahmood Baig, Mihaela B?lgr?dean, Erica E Dav |
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- Page last updated:Apr 22, 2024
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