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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Bardet-Biedl Syndrome and BBS4[original query]
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
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
Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet-Biedl syndrome.
Frontiers in genetics 2024 8 15 1419025.
M Orlova, P Gundorova, V Kadnikova, A Polyak
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