Beales PL - Search Results

1

Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.

Haq N, Schmidt-Hieber C, Sialana FJ, Ciani L, Heller JP, Stewart M, Bentley L, Wells S, Rodenburg RJ, Nolan PM, Forsythe E, Wu MC, Lubec G, Salinas P, Häusser M, Beales PL, Christou-Savina S. Haq N, et al. Among authors: beales pl. PLoS Biol. 2019 Sep 3;17(9):e3000414. doi: 10.1371/journal.pbio.3000414. eCollection 2019 Sep. PLoS Biol. 2019. PMID: 31479441 Free PMC article.

2

Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome.

Beales PL, Reid HA, Griffiths MH, Maher ER, Flinter FA, Woolf AS. Beales PL, et al. Nephrol Dial Transplant. 2000 Dec;15(12):1977-85. doi: 10.1093/ndt/15.12.1977. Nephrol Dial Transplant. 2000. PMID: 11096143

3

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P, Scambler PJ, Lewis RA, Lupski JR, Katsanis N. Beales PL, et al. Am J Hum Genet. 2003 May;72(5):1187-99. doi: 10.1086/375178. Epub 2003 Apr 3. Am J Hum Genet. 2003. PMID: 12677556 Free PMC article.

4

Lifting the lid on Pandora's box: the Bardet-Biedl syndrome.

Beales PL. Beales PL. Curr Opin Genet Dev. 2005 Jun;15(3):315-23. doi: 10.1016/j.gde.2005.04.006. Curr Opin Genet Dev. 2005. PMID: 15917208 Review.

5

Bardet-Biedl syndrome: beyond the cilium.

Tobin JL, Beales PL. Tobin JL, et al. Among authors: beales pl. Pediatr Nephrol. 2007 Jul;22(7):926-36. doi: 10.1007/s00467-007-0435-0. Epub 2007 Mar 15. Pediatr Nephrol. 2007. PMID: 17357787 Free PMC article. Review.

6

Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome.

Baker K, Northam GB, Chong WK, Banks T, Beales P, Baldeweg T. Baker K, et al. Am J Med Genet A. 2011 Jan;155A(1):1-8. doi: 10.1002/ajmg.a.33773. Epub 2010 Nov 17. Am J Med Genet A. 2011. PMID: 21204204

7

Bardet-Biedl syndrome.

Forsythe E, Beales PL. Forsythe E, et al. Among authors: beales pl. Eur J Hum Genet. 2013 Jan;21(1):8-13. doi: 10.1038/ejhg.2012.115. Epub 2012 Jun 20. Eur J Hum Genet. 2013. PMID: 22713813 Free PMC article.

8

Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.

Forsythe E, Sparks K, Hoskins BE, Bagkeris E, McGowan BM, Carroll PV, Huda MS, Mujahid S, Peters C, Barrett T, Mohammed S, Beales PL. Forsythe E, et al. Among authors: beales pl. Clin Genet. 2015 Apr;87(4):343-9. doi: 10.1111/cge.12373. Epub 2014 Apr 8. Clin Genet. 2015. PMID: 24611735 Free PMC article.

9

Evaluation of visual function and needs in adult patients with bardet-biedl syndrome.

Denniston AK, Beales PL, Tomlins PJ, Good P, Langford M, Foggensteiner L, Williams D, Tsaloumas MD. Denniston AK, et al. Among authors: beales pl. Retina. 2014 Nov;34(11):2282-9. doi: 10.1097/IAE.0000000000000222. Retina. 2014. PMID: 25170860

10

Bardet Biedl syndrome: motile ciliary phenotype.

Shoemark A, Dixon M, Beales PL, Hogg CL. Shoemark A, et al. Among authors: beales pl. Chest. 2015 Mar;147(3):764-770. doi: 10.1378/chest.13-2913. Chest. 2015. PMID: 25317630

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