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279 results

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Page 1
Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J. Haqq AM, et al. Among authors: dollfus h. Lancet Diabetes Endocrinol. 2022 Dec;10(12):859-868. doi: 10.1016/S2213-8587(22)00277-7. Epub 2022 Nov 7. Lancet Diabetes Endocrinol. 2022. PMID: 36356613 Free PMC article. Clinical Trial.
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. Among authors: dollfus h. 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.
IMPROVE 2022 International Meeting on Pathway-Related Obesity: Vision of Excellence.
Kühnen P, Argente J, Clément K, Dollfus H, Dubern B, Farooqi S, de Groot C, Grüters A, Holm JC, Hopkins M, Kleinendorst L, Körner A, Meeker D, Rydén M, von Schnurbein J, Tschöp M, Yeo GSH, Zorn S, Wabitsch M. Kühnen P, et al. Among authors: dollfus h. Clin Obes. 2024 Jun;14(3):e12659. doi: 10.1111/cob.12659. Epub 2024 Apr 11. Clin Obes. 2024. PMID: 38602039
ROSAH syndrome mimicking chronic uveitis.
Fardeau C, Alafaleq M, Dhaenens CM, Dollfus H, Koné-Paut I, Grunewald O, Morel JB, Titah C, Saadoun D, Lazeran PO, Meunier I. Fardeau C, et al. Among authors: dollfus h. Clin Genet. 2023 Apr;103(4):453-458. doi: 10.1111/cge.14286. Epub 2022 Dec 30. Clin Genet. 2023. PMID: 36543582
Response to comment on: Could internal limiting membrane peeling before Voretigen Neparvovec-ryzl subretinal injection prevent focal chorioretinal atrophy?
Dormegny L, Studer F, Sauer A, Ballonzoli L, Speeg-Schatz C, Bourcier T, Dollfus H, Gaucher D. Dormegny L, et al. Among authors: dollfus h. Heliyon. 2024 Sep 19;10(19):e37945. doi: 10.1016/j.heliyon.2024.e37945. eCollection 2024 Oct 15. Heliyon. 2024. PMID: 39386849 Free PMC article. No abstract available.
Functional Characterization of Splice Variants in the Diagnosis of Albinism.
Diallo M, Courdier C, Mercier E, Sequeira A, Defay-Stinat A, Plaisant C, Mesdaghi S, Rigden D, Javerzat S, Lasseaux E, Bourgeade L, Audebert-Bellanger S, Dollfus H, Hadj-Rabia S, Morice-Picard F, Philibert M, Sidibé MK, Smirnov V, Sylla O, Michaud V, Arveiler B. Diallo M, et al. Among authors: dollfus h. Int J Mol Sci. 2024 Aug 8;25(16):8657. doi: 10.3390/ijms25168657. Int J Mol Sci. 2024. PMID: 39201349 Free PMC article.
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.
Dollfus H, Lilien MR, Maffei P, Verloes A, Muller J, Bacci GM, Cetiner M, van den Akker ELT, Grudzinska Pechhacker M, Testa F, Lacombe D, Stokman MF, Simonelli F, Gouronc A, Gavard A, van Haelst MM, Koenig J, Rossignol S, Bergmann C, Zacchia M, Leroy BP, Mosbah H, Van Eerde AM, Mekahli D, Servais A, Poitou C, Valverde D. Dollfus H, et al. Eur J Hum Genet. 2024 Nov;32(11):1347-1360. doi: 10.1038/s41431-024-01634-7. Epub 2024 Jul 31. Eur J Hum Genet. 2024. PMID: 39085583 Free PMC article. Review.
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.
Igelman AD, White E, Tayyib A, Everett L, Vincent A, Heon E, Zeitz C, Michaelides M, Mahroo OA, Katta M, Webster A, Preising M, Lorenz B, Khateb S, Banin E, Sharon D, Luski S, Van Den Broeck F, Leroy BP, De Baere E, Walraedt S, Stingl K, Kuehlewein L, Kohl S, Reith M, Fulton A, Raghuram A, Meunier I, Dollfus H, Aleman TS, Bedoukian EC, O'Neil EC, Krauss E, Vincent A, Jordan C, Iannaccone A, Sen P, Sundaramurthy S, Nagasamy S, Balikova I, Casteels I, Borooah S, Yassin S, Nagiel A, Schwartz H, Zanlonghi X, Gottlob I, McLean RJ, Munier FL, Stephenson A, Sisk R, Koenekoop R, Wilson LB, Fredrick D, Choi D, Yang P, Pennesi ME. Igelman AD, et al. Among authors: dollfus h. Br J Ophthalmol. 2024 Jul 30:bjo-2023-323747. doi: 10.1136/bjo-2023-323747. Online ahead of print. Br J Ophthalmol. 2024. PMID: 39079892
Therapies for Inherited Retinal Dystrophies: What is Enough?
Leroy BP, Daly A, Héon E, Sahel JA, Dollfus H; IRD Study Group. Leroy BP, et al. Among authors: dollfus h. Drug Discov Today. 2024 Sep;29(9):104095. doi: 10.1016/j.drudis.2024.104095. Epub 2024 Jul 9. Drug Discov Today. 2024. PMID: 38992419 No abstract available.
279 results