Human Genome Epidemiology Literature Finder
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Records 1 - 6 (of 6 Records) |
| Query Trace: Disease and BBS2[original query] |
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| Carrier frequency of two BBS2 mutations in the Ashkenazi population. Clinical genetics 2014 Jun 85 (6): 578-82. Fedick A, Jalas C, Abeliovich D, Krakinovsky Y, Ekstein J, Ekstein A, Treff N |
| Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. JAMA ophthalmology 2015 Mar 133 (3): 312-8. Shevach Elia, Ali Manir, Mizrahi-Meissonnier Liliana, McKibbin Martin, El-Asrag Mohammed, Watson Christopher M, Inglehearn Chris F, Ben-Yosef Tamar, Blumenfeld Anat, Jalas Chaim, Banin Eyal, Sharon Dr |
| 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 |
| De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. PLoS genetics 2016 Apr 12 (4): e1005963. Priest James R, Osoegawa Kazutoyo, Mohammed Nebil, Nanda Vivek, Kundu Ramendra, Schultz Kathleen, Lammer Edward J, Girirajan Santhosh, Scheetz Todd, Waggott Daryl, Haddad Francois, Reddy Sushma, Bernstein Daniel, Burns Trudy, Steimle Jeffrey D, Yang Xinan H, Moskowitz Ivan P, Hurles Matthew, Lifton Richard P, Nickerson Debbie, Bamshad Michael, Eichler Evan E, Mital Seema, Sheffield Val, Quertermous Thomas, Gelb Bruce D, Portman Michael, Ashley Euan |
| 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 |
| The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers. International journal of medical sciences 2024 4 21 (5): 784-794. Meng-Hua Li, I-Chieh Chen, Hui-Wen Yang, Hsin-Chien Yen, Yung-Chieh Huang, Chia-Chi Hsu, Yi-Ming Chen, Yu-Yuan |
- Page last reviewed:Feb 1, 2024
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