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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 15
2016 17
2017 7
2018 10
2019 17
2020 15
2021 18
2022 12
2023 10
2024 9
2025 7

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270 results

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Page 1
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.
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.
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.
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR. Hoornaert KP, et al. Among authors: dollfus h. Eur J Hum Genet. 2010 Aug;18(8):872-80. doi: 10.1038/ejhg.2010.23. Epub 2010 Feb 24. Eur J Hum Genet. 2010. PMID: 20179744 Free PMC article.
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Mansard L, Baux D, Vaché C, Blanchet C, Meunier I, Willems M, Faugère V, Baudoin C, Moclyn M, Bianchi J, Dollfus H, Gilbert-Dussardier B, Dupin-Deguine D, Bonneau D, Drumare I, Odent S, Zanlonghi X, Claustres M, Koenig M, Kalatzis V, Roux AF. Mansard L, et al. Among authors: dollfus h. Int J Mol Sci. 2021 Dec 10;22(24):13294. doi: 10.3390/ijms222413294. Int J Mol Sci. 2021. PMID: 34948090 Free PMC article. Clinical Trial.
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.
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.
Gardie B, Remenieras A, Kattygnarath D, Bombled J, Lefèvre S, Perrier-Trudova V, Rustin P, Barrois M, Slama A, Avril MF, Bessis D, Caron O, Caux F, Collignon P, Coupier I, Cremin C, Dollfus H, Dugast C, Escudier B, Faivre L, Field M, Gilbert-Dussardier B, Janin N, Leport Y, Leroux D, Lipsker D, Malthieu F, McGilliwray B, Maugard C, Méjean A, Mortemousque I, Plessis G, Poppe B, Pruvost-Balland C, Rooker S, Roume J, Soufir N, Steinraths M, Tan MH, Théodore C, Thomas L, Vabres P, Van Glabeke E, Meric JB, Verkarre V, Lenoir G, Joulin V, Deveaux S, Cusin V, Feunteun J, Teh BT, Bressac-de Paillerets B, Richard S; French National Cancer Institute "Inherited predisposition to kidney cancer" network. Gardie B, et al. Among authors: dollfus h. J Med Genet. 2011 Apr;48(4):226-34. doi: 10.1136/jmg.2010.085068. Epub 2011 Mar 12. J Med Genet. 2011. PMID: 21398687 Free article.
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.
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.
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Nava C, Cogne B, Santini A, Leitão E, Lecoquierre F, Chen Y, Stenton SL, Besnard T, Heide S, Baer S, Jakhar A, Neuser S, Keren B, Faudet A, Forlani S, Faoucher M, Uguen K, Platzer K, Afenjar A, Alessandri JL, Andres S, Angelini C, Aral B, Arveiler B, Attie-Bitach T, Aubert Mucca M, Banneau G, Barakat TS, Barcia G, Baulac S, Beneteau C, Benkerdou F, Bernard V, Bézieau S, Bonneau D, Bonnet-Dupeyron MN, Boussion S, Boute O, Brischoux-Boucher E, Bryen SJ, Buratti J, Busa T, Caliebe A, Capri Y, Cassinari K, Caumes R, Cenni C, Chambon P, Charles P, Christodoulou J, Colson C, Conrad S, Cospain A, Coursimault J, Courtin T, Couse M, Coutton C, Creveaux I, D'Gama AM, Dauriat B, de Sainte Agathe JM, Del Gobbo G, Delahaye-Duriez A, Delanne J, Denommé-Pichon AS, Dieux-Coeslier A, Do Souto Ferreira L, Doco-Fenzy M, Drukewitz S, Duboc V, Dubourg C, Duffourd Y, Dyment D, El Chehadeh S, Elmaleh M, Faivre L, Fennelly S, Fischer H, Fradin M, Galludec Vaillant C, Ganne B, Ghoumid J, Goel H, Gokce-Samar Z, Goldenberg A, Gonfreville Robert R, Gorokhova S, Goujon L, Granier V, Gras M, Greally JM, Greiten B, Gueguen P, Guerrot AM, Guha S, Guimier A, Haack TB, Hadj Abdallah H, Halleb Y, Harbuz R, Harris M… See abstract for full author list ➔ Nava C, et al. Among authors: dollfus h. Nat Genet. 2025 Jun;57(6):1374-1388. doi: 10.1038/s41588-025-02184-4. Epub 2025 May 16. Nat Genet. 2025. PMID: 40379786 Free PMC article.
270 results