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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Douglas J, Lesca G, Antonarakis S, Hamamy H, Jouan T, Duffourd Y, Auvin S, Saunier A, Begtrup A, Nowak C, Chatron N, Ville D, Mireskandari K, Milani P, Jonveaux P, Lemeur G, Milh M, Amamoto M, Kato M, Nakashima M, Miyake N, Matsumoto N, Masri A, Thauvin-Robinet C, Rivière JB, Faivre L, Thevenon J. Assoum M, et al. Among authors: lemeur g. Am J Hum Genet. 2016 Dec 1;99(6):1368-1376. doi: 10.1016/j.ajhg.2016.10.009. Epub 2016 Nov 23. Am J Hum Genet. 2016. PMID: 27889060 Free PMC article.
[Risk factors for failure of pre-cut eye bank UT-DSAEK grafts].
Bodénès F, Eude Y, Baud'huin M, Vabres B, Weber M, Le Meur G, Orignac I. Bodénès F, et al. J Fr Ophtalmol. 2023 Apr;46(4):311-321. doi: 10.1016/j.jfo.2022.08.012. Epub 2023 Feb 15. J Fr Ophtalmol. 2023. PMID: 36804114 French.
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C. Audo I, et al. Am J Hum Genet. 2012 Feb 10;90(2):321-30. doi: 10.1016/j.ajhg.2011.12.007. Am J Hum Genet. 2012. PMID: 22325361 Free PMC article.
Mutations in IMPG1 cause vitelliform macular dystrophies.
Manes G, Meunier I, Avila-Fernández A, Banfi S, Le Meur G, Zanlonghi X, Corton M, Simonelli F, Brabet P, Labesse G, Audo I, Mohand-Said S, Zeitz C, Sahel JA, Weber M, Dollfus H, Dhaenens CM, Allorge D, De Baere E, Koenekoop RK, Kohl S, Cremers FP, Hollyfield JG, Sénéchal A, Hebrard M, Bocquet B, Ayuso García C, Hamel CP. Manes G, et al. Am J Hum Genet. 2013 Sep 5;93(3):571-8. doi: 10.1016/j.ajhg.2013.07.018. Epub 2013 Aug 29. Am J Hum Genet. 2013. PMID: 23993198 Free PMC article.
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.
Manes G, Guillaumie T, Vos WL, Devos A, Audo I, Zeitz C, Marquette V, Zanlonghi X, Defoort-Dhellemmes S, Puech B, Said SM, Sahel JA, Odent S, Dollfus H, Kaplan J, Dufier JL, Le Meur G, Weber M, Faivre L, Cohen FB, Béroud C, Picot MC, Verdier C, Sénéchal A, Baudoin C, Bocquet B, Findlay JB, Meunier I, Dhaenens CM, Hamel CP. Manes G, et al. Am J Ophthalmol. 2015 Feb;159(2):302-14. doi: 10.1016/j.ajo.2014.10.033. Epub 2014 Nov 5. Am J Ophthalmol. 2015. PMID: 25447119 Free article.
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
Ragge N, Isidor B, Bitoun P, Odent S, Giurgea I, Cogné B, Deb W, Vincent M, Le Gall J, Morton J, Lim D; DDD Study; Le Meur G, Zazo Seco C, Zafeiropoulou D, Bax D, Zwijnenburg P, Arteche A, Swafiri ST, Cleaver R, McEntagart M, Kini U, Newman W, Ayuso C, Corton M, Herenger Y, Jeanne M, Calvas P, Chassaing N. Ragge N, et al. Hum Genet. 2019 Sep;138(8-9):1051-1069. doi: 10.1007/s00439-018-1896-x. Epub 2018 Jul 4. Hum Genet. 2019. PMID: 29974297 Free article.
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases.
Blackburn PR, Zepeda-Mendoza CJ, Kruisselbrink TM, Schimmenti LA, García-Miñaur S, Palomares M, Nevado J, Mori MA, Le Meur G, Klee EW, Le Caignec C, Lapunzina P, Isidor B, Babovic-Vuksanovic D. Blackburn PR, et al. Eur J Hum Genet. 2019 Sep;27(9):1379-1388. doi: 10.1038/s41431-019-0423-4. Epub 2019 May 3. Eur J Hum Genet. 2019. PMID: 31053785 Free PMC article. Review.
63 results