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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: forsythe e. 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.
Bardet-Biedl syndrome.
Forsythe E, Beales PL. Forsythe E, et al. 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.
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. 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.
Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.
Forsythe E, Sparks K, Best S, Borrows S, Hoskins B, Sabir A, Barrett T, Williams D, Mohammed S, Goldsmith D, Milford DV, Bockenhauer D, Foggensteiner L, Beales PL. Forsythe E, et al. J Am Soc Nephrol. 2017 Mar;28(3):963-970. doi: 10.1681/ASN.2015091029. Epub 2016 Sep 22. J Am Soc Nephrol. 2017. PMID: 27659767 Free PMC article.
Managing Bardet-Biedl Syndrome-Now and in the Future.
Forsythe E, Kenny J, Bacchelli C, Beales PL. Forsythe E, et al. Front Pediatr. 2018 Feb 13;6:23. doi: 10.3389/fped.2018.00023. eCollection 2018. Front Pediatr. 2018. PMID: 29487844 Free PMC article. Review.
Toward personalized medicine in Bardet-Biedl syndrome.
Kenny J, Forsythe E, Beales P, Bacchelli C. Kenny J, et al. Among authors: forsythe e. Per Med. 2017 Sep;14(5):447-456. doi: 10.2217/pme-2017-0019. Epub 2017 Sep 4. Per Med. 2017. PMID: 29754569 Review.
Correction: 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 PC, Häusser M, Beales PL, Christou-Savina S. Haq N, et al. Among authors: forsythe e. PLoS Biol. 2019 Oct 8;17(10):e3000520. doi: 10.1371/journal.pbio.3000520. eCollection 2019 Oct. PLoS Biol. 2019. PMID: 31593567 Free PMC article.
Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results.
Forsythe E, Haws RM, Argente J, Beales P, Martos-Moreno GÁ, Dollfus H, Chirila C, Gnanasakthy A, Buckley BC, Mallya UG, Clément K, Haqq AM. Forsythe E, et al. Orphanet J Rare Dis. 2023 Jan 16;18(1):12. doi: 10.1186/s13023-022-02602-4. Orphanet J Rare Dis. 2023. PMID: 36647077 Free PMC article. Clinical Trial.
66 results