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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: Disease and BBS10[original query]
Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.
Clinical genetics 2015 Apr 87 (4): 343-9.
Forsythe E, Sparks K, Hoskins B E, Bagkeris E, McGowan B M, Carroll P V, Huda M S B, Mujahid S, Peters C, Barrett T, Mohammed S, Beales P
A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.
American journal of human genetics 2014 Nov 95 (5): 509-20.
Lim Elaine T, Liu Yangfan P, Chan Yingleong, Tiinamaija Tuomi, Käräjämäki AnnMari, Madsen Erik, , Altshuler David M, Raychaudhuri Soumya, Groop Leif, Flannick Jason, Hirschhorn Joel N, Katsanis Nicholas, Daly Mark
Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.
BMC cancer 2019 Apr 19 (1): 313.
Shahi Rajendra Bahadur, De Brakeleer Sylvia, Caljon Ben, Pauwels Ingrid, Bonduelle Maryse, Joris Sofie, Fontaine Christel, Vanhoeij Marian, Van Dooren Sonia, Teugels Erik, De Grève Jacqu
Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey.
Annals of human genetics 2020 7 85 (1): 27-36.
Gumus Evren, Tuncez Ebru, Oz Ozlem, Saka Guvenc Mer
Kidney failure in Bardet-Biedl syndrome.
Clinical genetics 2022 2 101 (4): 429-441.
Meyer Jennifer R, Krentz Anthony D, Berg Richard L, Richardson Jesse G, Pomeroy Jeremy, Hebbring Scott J, Haws Robert
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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