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Page 1
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
Poncet AF, Grunewald O, Vaclavik V, Meunier I, Drumare I, Pelletier V, Bocquet B, Todorova MG, Le Moing AG, Devos A, Schorderet DF, Jobic F, Defoort-Dhellemmes S, Dollfus H, Smirnov VM, Dhaenens CM. Poncet AF, et al. Among authors: drumare i. Int J Mol Sci. 2022 Apr 13;23(8):4294. doi: 10.3390/ijms23084294. Int J Mol Sci. 2022. PMID: 35457110 Free PMC article.
Long-term follow-up of two patients with oligocone trichromacy.
Smirnov V, Drumare I, Bouacha I, Puech B, Defoort-Dhellemmes S. Smirnov V, et al. Among authors: drumare i. Doc Ophthalmol. 2015 Oct;131(2):149-58. doi: 10.1007/s10633-015-9508-8. Epub 2015 Jul 3. Doc Ophthalmol. 2015. PMID: 26138751
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: drumare i. 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.
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Zeitz C, Michiels C, Neuillé M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, N Preising M, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanché H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, Koenekoop RK, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, L Munier F, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel JA, Audo I. Zeitz C, et al. Among authors: drumare i. Hum Mutat. 2019 Jun;40(6):765-787. doi: 10.1002/humu.23735. Epub 2019 Mar 28. Hum Mutat. 2019. PMID: 30825406
A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene.
Meunier I, Bocquet B, Labesse G, Zeitz C, Defoort-Dhellemmes S, Lacroux A, Mauget-Faysse M, Drumare I, Gamez AS, Mathieu C, Marquette V, Sagot L, Dhaenens CM, Arndt C, Carroll P, Remy-Jardin M, Cohen SY, Sahel JA, Puech B, Audo I, Mrejen S, Hamel CP. Meunier I, et al. Among authors: drumare i. Sci Rep. 2016 Sep 7;6:32544. doi: 10.1038/srep32544. Sci Rep. 2016. PMID: 27601084 Free PMC article.
Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients.
Douillard A, Picot MC, Delcourt C, Defoort-Dhellemmes S, Marzouka NA, Lacroux A, Zanlonghi X, Drumare I, Jozefowicz E, Bocquet B, Baudoin C, Perez-Roustit S, Arsène S, Gissot V, Devin F, Arndt C, Wolff B, Mauget-Faÿsse M, Quaranta M, Mura T, Deplanque D, Oubraham H, Cohen SY, Gastaud P, Zambrowski O, Creuzot-Garcher C, Saïd SM, Sahel JA, Souied E, Milazzo S, Garavito RB, Kalatzis V, Puech B, Hamel C, Audo I, Meunier I. Douillard A, et al. Among authors: drumare i. Sci Rep. 2018 May 1;8(1):6840. doi: 10.1038/s41598-018-25003-9. Sci Rep. 2018. PMID: 29717154 Free PMC article.
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
Scheidecker S, Hull S, Perdomo Y, Studer F, Pelletier V, Muller J, Stoetzel C, Schaefer E, Defoort-Dhellemmes S, Drumare I, Holder GE, Hamel CP, Webster AR, Moore AT, Puech B, Dollfus HJ. Scheidecker S, et al. Among authors: drumare i. Am J Ophthalmol. 2015 Aug;160(2):364-372.e1. doi: 10.1016/j.ajo.2015.05.007. Epub 2015 May 15. Am J Ophthalmol. 2015. PMID: 25982971
16 results