Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: BBS2[original query] |
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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 |
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 |
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. PloS one 2014 9 (8): e104281. Watson Christopher M, El-Asrag Mohammed, Parry David A, Morgan Joanne E, Logan Clare V, Carr Ian M, Sheridan Eamonn, Charlton Ruth, Johnson Colin A, Taylor Graham, Toomes Carmel, McKibbin Martin, Inglehearn Chris F, Ali Man |
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 |
Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing. Molecular vision 2015 21 477-86. Xu Yan, Guan Liping, Xiao Xueshan, Zhang Jianguo, Li Shiqiang, Jiang Hui, Jia Xiaoyun, Yang Jianhua, Guo Xiangming, Yin Ye, Wang Jun, Zhang Qingjio |
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 |
Myelomeningocele genotype-phenotype correlation findings in cilia, HH, PCP, and WNT signaling pathways. Birth defects research 2021 Jan . Ortiz-Cruz Gabriela, Aguayo-Gómez Adolfo, Luna-Muñoz Leonora, Muñoz-Téllez Luis A, Mutchinick Osvaldo |
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 |
Understanding the genetics of early onset obesity in a cohort of children from Qatar. The Journal of clinical endocrinology and metabolism 2023 6 . Idris Mohammed, Basma Haris, Tara Al-Barazenji, Dhanya Vasudeva, Sara Tomei, Iman Al Azwani, Hajar Dauleh, Saira Shehzad, Shiga Chirayath, Ghassan Mohamadsalih, Goran Petrovski, Amel Khalifa, Donald R Love, Mashael Al-Shafai, Khalid Hussa |
Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients. Orphanet journal of rare diseases 2024 4 19 (1): 149. Shiyang Gao, Qianwen Zhang, Yu Ding, Libo Wang, Zhiying Li, Feihan Hu, Ru-En Yao, Tingting Yu, Guoying Chang, Xiumin Wa |
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 |
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- Page last updated:Apr 29, 2024
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