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1,791 results

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A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype.
Manes G, Joly W, Guignard T, Smirnov V, Berthemy S, Bocquet B, Audo I, Zeitz C, Sahel J, Cazevieille C, Sénéchal A, Deleuze JF, Blanché-Koch H, Boland A, Carroll P, Geneviève D, Zanlonghi X, Arndt C, Hamel CP, Defoort-Dhellemmes S, Meunier I. Manes G, et al. Among authors: smirnov v. Hum Mol Genet. 2017 Nov 15;26(22):4367-4374. doi: 10.1093/hmg/ddx322. Hum Mol Genet. 2017. PMID: 28973654 Free article.
CNGB1-related rod-cone dystrophy: A mutation review and update.
Nassisi M, Smirnov VM, Solis Hernandez C, Mohand-Saïd S, Condroyer C, Antonio A, Kühlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein VC, Michalakis S, Mahroo OA, Ba-Abbad R, Michaelides M, Webster AR, Degli Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones SM, Zeitz C, Audo I. Nassisi M, et al. Hum Mutat. 2021 Jun;42(6):641-666. doi: 10.1002/humu.24205. Epub 2021 May 16. Hum Mutat. 2021. PMID: 33847019 Free PMC article. Review.
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Smirnov V, Grunewald O, Muller J, Zeitz C, Obermaier CD, Devos A, Pelletier V, Bocquet B, Andrieu C, Bacquet JL, Lebredonchel E, Mohand-Saïd S, Defoort-Dhellemmes S, Sahel JA, Dollfus H, Zanlonghi X, Audo I, Meunier I, Boulanger-Scemama E, Dhaenens CM. Smirnov V, et al. Int J Mol Sci. 2021 Jun 15;22(12):6410. doi: 10.3390/ijms22126410. Int J Mol Sci. 2021. PMID: 34203883 Free PMC article.
Characterization of SSBP1-related optic atrophy and foveopathy.
Meunier I, Bocquet B, Defoort-Dhellemmes S, Smirnov V, Arndt C, Picot MC, Dollfus H, Charif M, Audo I, Huguet H, Zanlonghi X, Lenaers G. Meunier I, et al. Among authors: smirnov v. Sci Rep. 2021 Sep 21;11(1):18703. doi: 10.1038/s41598-021-98150-1. Sci Rep. 2021. PMID: 34548540 Free PMC article.
CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.
Mairot K, Smirnov V, Bocquet B, Labesse G, Arndt C, Defoort-Dhellemmes S, Zanlonghi X, Hamroun D, Denis D, Picot MC, David T, Grunewald O, Pégart M, Huguet H, Roux AF, Kalatzis V, Dhaenens CM, Meunier I. Mairot K, et al. Among authors: smirnov v. Int J Mol Sci. 2021 Nov 23;22(23):12642. doi: 10.3390/ijms222312642. Int J Mol Sci. 2021. PMID: 34884448 Free PMC article.
Shedding light on myopia by studying complete congenital stationary night blindness.
Zeitz C, Roger JE, Audo I, Michiels C, Sánchez-Farías N, Varin J, Frederiksen H, Wilmet B, Callebert J, Gimenez ML, Bouzidi N, Blond F, Guilllonneau X, Fouquet S, Léveillard T, Smirnov V, Vincent A, Héon E, Sahel JA, Kloeckener-Gruissem B, Sennlaub F, Morgans CW, Duvoisin RM, Tkatchenko AV, Picaud S. Zeitz C, et al. Among authors: smirnov v. Prog Retin Eye Res. 2023 Mar;93:101155. doi: 10.1016/j.preteyeres.2022.101155. Epub 2023 Jan 19. Prog Retin Eye Res. 2023. PMID: 36669906 Free article. Review.
Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.
Zeitz C, Navarro J, Azizzadeh Pormehr L, Méjécase C, Neves LM, Letellier C, Condroyer C, Albadri S, Amprou A, Antonio A, Ben-Yacoub T, Wohlschlegel J, Andrieu C, Serafini M, Bianco L, Antropoli A, Nassisi M, El Shamieh S, Chantot-Bastaraud S, Mohand-Saïd S, Smirnov V, Sahel JA, Del Bene F, Audo I. Zeitz C, et al. Among authors: smirnov v. Genet Med. 2024 Jun;26(6):101081. doi: 10.1016/j.gim.2024.101081. Epub 2024 Jan 28. Genet Med. 2024. PMID: 38293907 Free article.
1,791 results