Browse by UCL people
Group by: Type | Date
Number of items: 10.
Article
Eintracht, J;
Forsythe, E;
May-Simera, H;
Moosajee, M;
(2021)
Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts.
EBioMedicine
, 70
, Article 103515. 10.1016/j.ebiom.2021.103515.
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Forsythe, E;
Haws, RM;
Argente, J;
Beales, P;
Martos-Moreno, G;
Dollfus, H;
Chirila, C;
... Haqq, AM; + view all
(2023)
Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results.
Orphanet Journal of Rare Diseases
, 18
(1)
, Article 12. 10.1186/s13023-022-02602-4.
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Forsythe, E;
Kenny, J;
Bacchelli, C;
Beales, PL;
(2018)
Managing Bardet-Biedl Syndrome-Now and in the Future.
Frontiers in Pediatrics
, 6
, Article 23. 10.3389/fped.2018.00023.
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Forsythe, E;
Sparks, K;
Best, S;
Borrows, S;
Hoskins, B;
Sabir, A;
Barrett, T;
... Beales, PL; + view all
(2017)
Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.
Journal of the American Society of Nephrology
, 28
(3)
pp. 963-970.
10.1681/ASN.2015091029.
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Haq, N;
Schmidt-Hieber, C;
Sialana, FJ;
Ciani, L;
Heller, JP;
Stewart, M;
Bentley, L;
... Christou-Savina, S; + view all
(2019)
Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
PLoS Biology
, 17
(9)
, Article e3000414. 10.1371/journal.pbio.3000414.
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Kenny, J;
Bacchelli, C;
Forsythe, E;
Beales, P;
(2017)
Toward personalized medicine in Bardet-Biedl syndrome.
Personalized Medicine
10.2217/pme-2017-0019.
(In press).
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Lee, DDH;
Cardinale, D;
Nigro, E;
Butler, CR;
Rutman, A;
Fassad, MR;
Hirst, RA;
... O'Callaghan, C; + view all
(2021)
Higher throughput drug screening for rare respiratory diseases: Readthrough therapy in primary ciliary dyskinesia.
European Respiratory Journal
10.1183/13993003.00455-2020.
(In press).
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Mujahid, S;
Hunt, KF;
Cheah, YS;
Forsythe, E;
Hazlehurst, JM;
Sparks, K;
Mohammed, S;
... McGowan, BM; + view all
(2018)
The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population.
Journal of Clinical Endocrinology & Metabolism
, 103
(5)
pp. 1834-1841.
10.1210/jc.2017-01459.
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Tsyklauri, O;
Niederlova, V;
Forsythe, E;
Prasai, A;
Drobek, A;
Kasparek, P;
Sparks, K;
... Stepanek, O; + view all
(2021)
Bardet-Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance.
EMBO Reports
, 3
(2)
, Article e50785. 10.15252/embr.202050785.
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Thesis
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Forsythe, Elizabeth;
(2019)
Understanding the phenotype and preparing for therapeutics in Bardet-Biedl syndrome.
Doctoral thesis (Ph.D), UCL (University College London).
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