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Page 1
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. Among authors: hebrard m. 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.
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
Angebault C, Guichet PO, Talmat-Amar Y, Charif M, Gerber S, Fares-Taie L, Gueguen N, Halloy F, Moore D, Amati-Bonneau P, Manes G, Hebrard M, Bocquet B, Quiles M, Piro-Mégy C, Teigell M, Delettre C, Rossel M, Meunier I, Preising M, Lorenz B, Carelli V, Chinnery PF, Yu-Wai-Man P, Kaplan J, Roubertie A, Barakat A, Bonneau D, Reynier P, Rozet JM, Bomont P, Hamel CP, Lenaers G. Angebault C, et al. Among authors: hebrard m. Am J Hum Genet. 2015 Nov 5;97(5):754-60. doi: 10.1016/j.ajhg.2015.09.012. Epub 2015 Oct 22. Am J Hum Genet. 2015. PMID: 26593267 Free PMC article.
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.
Bocquet B, Lacroux A, Surget MO, Baudoin C, Marquette V, Manes G, Hebrard M, Sénéchal A, Delettre C, Roux AF, Claustres M, Dhaenens CM, Rozet JM, Perrault I, Bonnefont JP, Kaplan J, Dollfus H, Amati-Bonneau P, Bonneau D, Reynier P, Audo I, Zeitz C, Sahel JA, Paquis-Flucklinger V, Calvas P, Arveiler B, Kohl S, Wissinger B, Blanchet C, Meunier I, Hamel CP. Bocquet B, et al. Among authors: hebrard m. Ophthalmic Epidemiol. 2013;20(1):13-25. doi: 10.3109/09286586.2012.737890. Ophthalmic Epidemiol. 2013. PMID: 23350551
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.
Angebault C, Charif M, Guegen N, Piro-Megy C, Mousson de Camaret B, Procaccio V, Guichet PO, Hebrard M, Manes G, Leboucq N, Rivier F, Hamel CP, Lenaers G, Roubertie A. Angebault C, et al. Among authors: hebrard m. Hum Mol Genet. 2015 Jul 15;24(14):3948-55. doi: 10.1093/hmg/ddv133. Epub 2015 Apr 21. Hum Mol Genet. 2015. PMID: 25901006
Population genomics of picophytoplankton unveils novel chromosome hypervariability.
Blanc-Mathieu R, Krasovec M, Hebrard M, Yau S, Desgranges E, Martin J, Schackwitz W, Kuo A, Salin G, Donnadieu C, Desdevises Y, Sanchez-Ferandin S, Moreau H, Rivals E, Grigoriev IV, Grimsley N, Eyre-Walker A, Piganeau G. Blanc-Mathieu R, et al. Among authors: hebrard m. Sci Adv. 2017 Jul 5;3(7):e1700239. doi: 10.1126/sciadv.1700239. eCollection 2017 Jul. Sci Adv. 2017. PMID: 28695208 Free PMC article.
ScripTree: scripting phylogenetic graphics.
Chevenet F, Croce O, Hebrard M, Christen R, Berry V. Chevenet F, et al. Among authors: hebrard m. Bioinformatics. 2010 Apr 15;26(8):1125-6. doi: 10.1093/bioinformatics/btq086. Epub 2010 Mar 1. Bioinformatics. 2010. PMID: 20194627
A Catalogue of Structural Variation across Ancestrally Diverse Asian Genomes.
Tan JHJ, Li Z, Porta MG, Rajaby R, Lim WK, Tan YA, Jimenez RT, Teo R, Hebrard M, Ow JL, Ang S, Jeyakani J, Chong YS, Lim TH, Goh LL, Tham YC, Leong KP, Chin CWL; SG10K_Health Consortium; Davila S, Karnani N, Cheng CY, Chambers J, Tai ES, Liu J, Sim X, Sung WK, Prabhakar S, Tan P, Bertin N. Tan JHJ, et al. Among authors: hebrard m. Nat Commun. 2024 Nov 4;15(1):9507. doi: 10.1038/s41467-024-53620-8. Nat Commun. 2024. PMID: 39496583 Free PMC article.
31 results