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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 2
1993 4
1994 1
1995 2
1996 3
1997 1
1998 5
1999 3
2000 1
2001 5
2002 6
2003 5
2004 7
2005 8
2006 16
2007 9
2008 4
2009 8
2010 18
2011 19
2012 18
2013 14
2014 17
2015 16
2016 17
2017 7
2018 10
2019 17
2020 15
2021 18
2022 12
2023 9
2024 3

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257 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.
Heimler Syndrome.
Mechaussier S, Perrault I, Dollfus H, Bloch-Zupan A, Loundon N, Jonard L, Marlin S. Mechaussier S, et al. Among authors: dollfus h. Adv Exp Med Biol. 2020;1299:81-87. doi: 10.1007/978-3-030-60204-8_7. Adv Exp Med Biol. 2020. PMID: 33417209 Review.
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
FOXE3 mutations: genotype-phenotype correlations.
Plaisancié J, Ragge NK, Dollfus H, Kaplan J, Lehalle D, Francannet C, Morin G, Colineaux H, Calvas P, Chassaing N. Plaisancié J, et al. Among authors: dollfus h. Clin Genet. 2018 Apr;93(4):837-845. doi: 10.1111/cge.13177. Clin Genet. 2018. PMID: 29136273 Review.
Hydroxychloroquine hitting the headlines-retinal considerations.
Downes SM, Leroy BP, Sharma SM, Sivaprasad S, Dollfus H. Downes SM, et al. Among authors: dollfus h. Eye (Lond). 2020 Jul;34(7):1158-1160. doi: 10.1038/s41433-020-0934-9. Epub 2020 May 19. Eye (Lond). 2020. PMID: 32427967 Free PMC article. No abstract available.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, Balousha G, Benedicenti F, Birch D, Bitoun P, Blain D, Bocquet B, Branham K, Català-Mora J, De Baere E, Dollfus H, Falana M, Giorda R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K, Jägle H, Janecke AR, Kellner U, Liskova P, Lorenz B, Martorell-Sampol L, Messias A, Meunier I, Belga Ottoni Porto F, Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB, Rosenberg T, Rudolph G, Salati R, Sener EC, Sieving PA, Stanzial F, Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K, Wissinger B, Kohl S. Solaki M, et al. Among authors: dollfus h. Hum Mutat. 2022 Jul;43(7):832-858. doi: 10.1002/humu.24371. Epub 2022 Apr 14. Hum Mutat. 2022. PMID: 35332618 Review.
European Reference Networks: challenges and opportunities.
Tumiene B, Graessner H, Mathijssen IM, Pereira AM, Schaefer F, Scarpa M, Blay JY, Dollfus H, Hoogerbrugge N. Tumiene B, et al. Among authors: dollfus h. J Community Genet. 2021 Apr;12(2):217-229. doi: 10.1007/s12687-021-00521-8. Epub 2021 Mar 17. J Community Genet. 2021. PMID: 33733400 Free PMC article.
[Update on Bardet-Biedl syndrome].
Dollfus H, Verloes A, Bonneau D, Cossée M, Perrin-Schmitt F, Brandt C, Flament J, Mandel JL. Dollfus H, et al. J Fr Ophtalmol. 2005 Jan;28(1):106-12. doi: 10.1016/s0181-5512(05)81032-0. J Fr Ophtalmol. 2005. PMID: 15767906 Review. French.
257 results