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Items: 18

1.

Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing.

Barny I, Perrault I, Rio M, Dollfus H, Defoort-Dhellemmes S, Kaplan J, Rozet JM, Gerard X.

Adv Exp Med Biol. 2019;1185:189-195. doi: 10.1007/978-3-030-27378-1_31.

PMID:
31884610
2.

AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction?

Barny I, Perrault I, Michel C, Goudin N, Defoort-Dhellemmes S, Ghazi I, Kaplan J, Rozet JM, Gerard X.

Genes (Basel). 2019 May 14;10(5). pii: E368. doi: 10.3390/genes10050368.

3.

Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.

Barny I, Perrault I, Michel C, Soussan M, Goudin N, Rio M, Thomas S, Attié-Bitach T, Hamel C, Dollfus H, Kaplan J, Rozet JM, Gerard X.

Hum Mol Genet. 2018 Aug 1;27(15):2689-2702. doi: 10.1093/hmg/ddy179.

PMID:
29771326
4.

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Luscan R, Mechaussier S, Paul A, Tian G, Gérard X, Defoort-Dellhemmes S, Loundon N, Audo I, Bonnin S, LeGargasson JF, Dumont J, Goudin N, Garfa-Traoré M, Bras M, Pouliet A, Bessières B, Boddaert N, Sahel JA, Lyonnet S, Kaplan J, Cowan NJ, Rozet JM, Marlin S, Perrault I.

Am J Hum Genet. 2017 Dec 7;101(6):1006-1012. doi: 10.1016/j.ajhg.2017.10.010. Epub 2017 Nov 30.

5.

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

Gerber S, Ding MG, Gérard X, Zwicker K, Zanlonghi X, Rio M, Serre V, Hanein S, Munnich A, Rotig A, Bianchi L, Amati-Bonneau P, Elpeleg O, Kaplan J, Brandt U, Rozet JM.

J Med Genet. 2017 May;54(5):346-356. doi: 10.1136/jmedgenet-2016-104212. Epub 2016 Dec 28.

PMID:
28031252
6.

A novel recurrent LIS1 splice site mutation in classic lissencephaly.

Philbert M, Maillard C, Cavallin M, Goldenberg A, Masson C, Boddaert N, El Morjani A, Steffann J, Chelly J, Gerard X, Bahi-Buisson N.

Am J Med Genet A. 2017 Feb;173(2):561-564. doi: 10.1002/ajmg.a.38041. Epub 2016 Nov 27. No abstract available.

PMID:
27891766
7.

Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies.

Gerard X, Garanto A, Rozet JM, Collin RW.

Adv Exp Med Biol. 2016;854:517-24. doi: 10.1007/978-3-319-17121-0_69. Review.

PMID:
26427454
8.

Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells.

Gérard X, Perrault I, Munnich A, Kaplan J, Rozet JM.

Mol Ther Nucleic Acids. 2015 Sep 1;4:e250. doi: 10.1038/mtna.2015.24.

9.

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

Perrault I, Halbritter J, Porath JD, Gérard X, Braun DA, Gee HY, Fathy HM, Saunier S, Cormier-Daire V, Thomas S, Attié-Bitach T, Boddaert N, Taschner M, Schueler M, Lorentzen E, Lifton RP, Lawson JA, Garfa-Traore M, Otto EA, Bastin P, Caillaud C, Kaplan J, Rozet JM, Hildebrandt F.

J Med Genet. 2015 Oct;52(10):657-65. doi: 10.1136/jmedgenet-2014-102838. Epub 2015 Aug 14.

10.

Understanding disease pleiotropy: From puzzle to solution.

Rozet JM, Gérard X.

Sci Transl Med. 2015 Jun 10;7(291):291fs24. doi: 10.1126/scitranslmed.aac6504.

PMID:
26062843
11.

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.

Metodiev MD, Gerber S, Hubert L, Delahodde A, Chretien D, Gérard X, Amati-Bonneau P, Giacomotto MC, Boddaert N, Kaminska A, Desguerre I, Amiel J, Rio M, Kaplan J, Munnich A, Rötig A, Rozet JM, Besmond C.

J Med Genet. 2014 Dec;51(12):834-8. doi: 10.1136/jmedgenet-2014-102532. Epub 2014 Oct 28.

PMID:
25351951
12.

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

Perrault I, Hamdan FF, Rio M, Capo-Chichi JM, Boddaert N, Décarie JC, Maranda B, Nabbout R, Sylvain M, Lortie A, Roux PP, Rossignol E, Gérard X, Barcia G, Berquin P, Munnich A, Rouleau GA, Kaplan J, Rozet JM, Michaud JL.

Am J Hum Genet. 2014 Jun 5;94(6):891-7. doi: 10.1016/j.ajhg.2014.04.012. Epub 2014 May 8.

13.

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.

Gerard X, Perrault I, Hanein S, Silva E, Bigot K, Defoort-Delhemmes S, Rio M, Munnich A, Scherman D, Kaplan J, Kichler A, Rozet JM.

Mol Ther Nucleic Acids. 2012 Jun 26;1:e29. doi: 10.1038/mtna.2012.21.

14.

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, Silva E, Serey M, Serre V, Gérard X, Baumann C, Plessis G, Demeer B, Brétillon L, Bole C, Nitschke P, Munnich A, Lyonnet S, Calvas P, Kaplan J, Ragge N, Rozet JM.

Am J Hum Genet. 2013 Feb 7;92(2):265-70. doi: 10.1016/j.ajhg.2012.12.003. Epub 2013 Jan 9.

15.

Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations.

Papon JF, Perrault I, Coste A, Louis B, Gérard X, Hanein S, Fares-Taie L, Gerber S, Defoort-Dhellemmes S, Vojtek AM, Kaplan J, Rozet JM, Escudier E.

J Med Genet. 2010 Dec;47(12):829-34. doi: 10.1136/jmg.2010.077883. Epub 2010 Aug 30.

16.

[Clinical inertia in geriatrics].

Suarez AS, Gérard X, Petermans J, Van Hees T.

Rev Med Liege. 2010 May-Jun;65(5-6):256-60. French.

17.

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Perrault I, Hanein S, Gerard X, Delphin N, Fares-Taie L, Gerber S, Pelletier V, Mercé E, Dollfus H, Puech B, Defoort-Dhellemmes S, Petersen MD, Zafeiriou D, Munnich A, Kaplan J, Roche O, Rozet JM.

Hum Mutat. 2010 Mar;31(3):E1241-50. doi: 10.1002/humu.21203.

PMID:
20104588
18.

Real-time monitoring of cell transplantation in mouse dystrophic muscles by a secreted alkaline phosphatase reporter gene.

Gerard X, Vignaud L, Charles S, Pinset C, Scherman D, Kichler A, Israeli D.

Gene Ther. 2009 Jun;16(6):815-9. doi: 10.1038/gt.2009.28. Epub 2009 Mar 12.

PMID:
19282846

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