PubMed

Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.

Valayannopoulos V, Boddaert N, Mention K, Touati G, Barbier V, Chabli A, Sedel F, Kaplan J, Dufier JL, Seidenwurm D, Rabier D, Saudubray JM, de Lonlay P.

Mol Genet Metab. 2009 Jun;97(2):109-13. Epub 2009 Mar 31.PMID: 19345633 [PubMed - indexed for MEDLINE]Related articles

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.

Hanein S, Perrault I, Roche O, Gerber S, Khadom N, Rio M, Boddaert N, Jean-Pierre M, Brahimi N, Serre V, Chretien D, Delphin N, Fares-Taie L, Lachheb S, Rotig A, Meire F, Munnich A, Dufier JL, Kaplan J, Rozet JM.

Am J Hum Genet. 2009 Apr;84(4):493-8. Epub 2009 Mar 26.PMID: 19327736 [PubMed - indexed for MEDLINE]Related articlesFree article

Analysis of partner of inscuteable (mPins) expression in the developing mouse eye.

Raji B, Dansault A, Vieira V, de la Houssaye G, Lacassagne E, Kobetz A, Arbogast L, Dufier JL, Blumer JB, Menasche M, Abitbol M.

Mol Vis. 2008;14:2575-96. Epub 2008 Dec 31.PMID: 19122831 [PubMed - indexed for MEDLINE]Related articlesFree article

Differential regulation of Dlg1, Scrib, and Lgl1 expression in a transgenic mouse model of ocular cancer.

Vieira V, de la Houssaye G, Lacassagne E, Dufier JL, Jaïs JP, Beermann F, Menasche M, Abitbol M.

Mol Vis. 2008;14:2390-403. Epub 2008 Dec 19.PMID: 19098995 [PubMed - indexed for MEDLINE]Related articlesFree article

ETS-1 and ETS-2 are upregulated in a transgenic mouse model of pigmented ocular neoplasm.

De la Houssaye G, Vieira V, Masson C, Beermann F, Dufier JL, Menasche M, Abitbol M.

Mol Vis. 2008;14:1912-28. Epub 2008 Oct 29.PMID: 18958307 [PubMed - indexed for MEDLINE]Related articlesFree article

Vertical and horizontal smooth pursuit eye movements in children: a neuro-developmental study.

Ingster-Moati I, Vaivre-Douret L, Bui Quoc E, Albuisson E, Dufier JL, Golse B.

Eur J Paediatr Neurol. 2009 Jul;13(4):362-6. Epub 2008 Sep 16.PMID: 18799334 [PubMed - indexed for MEDLINE]Related articles

Familial congenital oculomotor apraxia: clinical and electro-oculographic features.

Orssaud C, Ingster-Moati I, Roche O, Bui Quoc E, Dufier JL.

Eur J Paediatr Neurol. 2009 Jul;13(4):370-2. Epub 2008 Aug 13.PMID: 18703363 [PubMed - indexed for MEDLINE]Related articles

Descemet membrane rupture accompanied by stromal clefting in congenital glaucoma.

Roche O, Beby F, Dufier JL, Parsa CF.

Arch Ophthalmol. 2008 Aug;126(8):1163-4. No abstract available. PMID: 18695119 [PubMed - indexed for MEDLINE]Related articles

Carotid Artery Dissection Revealed by an Oculosympathetic Spasm.

Orssaud C, Roche O, Renard G, Dufier JL.

J Emerg Med. 2008 May 1. [Epub ahead of print]PMID: 18455904 [PubMed - as supplied by publisher]Related articles

[Evaluation of the results of 12-mm recession of the inferior oblique muscle in superior oblique palsy: retrospective study in six patients]

Dufay-Dupar B, Espinasse-Berrod MA, Dufier JL.

J Fr Ophtalmol. 2008 Jan;31(1):24-9. French. PMID: 18401295 [PubMed - indexed for MEDLINE]Related articlesFree article

[Organic causes of bad visual development in the child]

Roche O, Dufier JL.

Rev Prat. 2007 Nov 30;57(18):2033-8. French. PMID: 18326437 [PubMed - indexed for MEDLINE]Related articles

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

Gerber S, Hanein S, Perrault I, Delphin N, Aboussair N, Leowski C, Dufier JL, Roche O, Munnich A, Kaplan J, Rozet JM.

Hum Mutat. 2007 Dec;28(12):1245.PMID: 18000884 [PubMed - indexed for MEDLINE]Related articles

Nonpenetrating external trabeculectomy for congenital glaucoma: a retrospective study.

Roche O, Beby F, Parsa A, Orssaud C, Dufier JL, Parsa CF.

Ophthalmology. 2007 Nov;114(11):1994-9.PMID: 17980742 [PubMed - indexed for MEDLINE]Related articles

Novel human pathological mutations. Gene symbol: FZD4. Disease: familial exudative vitreoretinopathy.

Vieira V, de la Houssaye G, Dansault A, Perez E, Roche O, Dufier JL, Marsac C, Menasche M, Abitbol M.

Hum Genet. 2007 Jun;121(5):650. No abstract available. PMID: 17879448 [PubMed - indexed for MEDLINE]Related articles

Nutritional optic neuropathies.

Orssaud C, Roche O, Dufier JL.

J Neurol Sci. 2007 Nov 15;262(1-2):158-64. Epub 2007 Aug 17. Review.PMID: 17707410 [PubMed - indexed for MEDLINE]Related articles

Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example.

Hanein S, Perrault I, Gerber S, Delphin N, Benezra D, Shalev S, Carmi R, Feingold J, Dufier JL, Munnich A, Kaplan J, Rozet JM, Jeanpierre M.

Eur J Hum Genet. 2008 Jan;16(1):115-23. Epub 2007 Aug 8.PMID: 17684531 [PubMed - indexed for MEDLINE]Related articlesFree article

[Persistence and hyperplasia of primary vitreous]

Roche O, Keita Sylla F, Beby F, Orssaud C, Dufier JL.

J Fr Ophtalmol. 2007 Jun;30(6):647-57. Review. French. PMID: 17646755 [PubMed - indexed for MEDLINE]Related articlesFree article

[Diagnosis of visual impairment]

Orssaud C, Dufier JL.

Rev Prat. 2007 Mar 15;57(5):543-9. Review. French. No abstract available. PMID: 17583142 [PubMed - indexed for MEDLINE]Related articles

[Anhidrotic ectodermal dysplasia: "congenital ameibomia"]

Allali J, Roche O, Monnet D, Brezin A, Renard G, Dufier JL.

J Fr Ophtalmol. 2007 May;30(5):525-8. French. PMID: 17568347 [PubMed - indexed for MEDLINE]Related articlesFree article

[Persistent hyperplastic primary vitreous: a retrospective study]

Roche O, Orssaud C, Beby F, Keita Sylla F, Allali L, Dufier JL.

J Fr Ophtalmol. 2007 May;30(5):483-91. French. PMID: 17568341 [PubMed - indexed for MEDLINE]Related articlesFree article

[Pediatric aspects of Fabry's disease]

Roche O, Orssaud C, Germain D, Dufier JL.

Arch Pediatr. 2007 Jul;14(7):909-14. Epub 2007 Apr 24. Review. French. PMID: 17459672 [PubMed - indexed for MEDLINE]Related articles

[Painful ophthalmoplegia in children: Tolosa-Hunt syndrome or ophthalmoplegic migraine?]

Orssaud C, Roche O, El Dirani H, Allali J, Dufier JL.

Arch Pediatr. 2007 Aug;14(8):996-9. Epub 2007 Apr 23. French. PMID: 17451915 [PubMed - indexed for MEDLINE]Related articles

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.

Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, Bigot K, Catin F, Tattu L, Chopin C, Halimi P, Roche O, Van Regemorter N, Munier F, Schorderet D, Dufier JL, Marsac C, Ricquier D, Menasche M, Penfornis A, Abitbol M.

Mol Vis. 2007 Apr 2;13:511-23.PMID: 17417613 [PubMed - indexed for MEDLINE]Related articlesFree article

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Perrault I, Delphin N, Hanein S, Gerber S, Dufier JL, Roche O, Defoort-Dhellemmes S, Dollfus H, Fazzi E, Munnich A, Kaplan J, Rozet JM.

Hum Mutat. 2007 Apr;28(4):416.PMID: 17345604 [PubMed - indexed for MEDLINE]Related articles

[Glaucoma with aniridia and isolated congenital glaucoma in siblings: contribution and limits of genetics]

Lise-Schneider B, Calvas P, Roche O, Lambert JC, Dufier JL, Costet-Fighiera C.

J Fr Ophtalmol. 2007 Jan;30(1):44-8. French. PMID: 17287671 [PubMed - indexed for MEDLINE]Related articlesFree article

[Ultrasound biomicroscopy and physiopathology of congenital iris cysts]

Roche O, Orssaud C, Beby F, Dupont Monod S, Roquet W, Dufier JL.

J Fr Ophtalmol. 2007 Jan;30(1):25-30. French. PMID: 17287668 [PubMed - indexed for MEDLINE]Related articlesFree article

New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy.

Marchant D, Yu K, Bigot K, Roche O, Germain A, Bonneau D, Drouin-Garraud V, Schorderet DF, Munier F, Schmidt D, Le Neindre P, Marsac C, Menasche M, Dufier JL, Fischmeister R, Hartzell C, Abitbol M.

J Med Genet. 2007 Mar;44(3):e70. Epub 2007 Feb 7.PMID: 17287362 [PubMed - indexed for MEDLINE]Related articlesFree article

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22.

Barbet F, Gerber S, Hakiki S, Perrault I, Hanein S, Ducroq D, Tanguy G, Dufier JL, Munnich A, Kaplan J, Rozet JM.

Adv Exp Med Biol. 2006;572:21-7. No abstract available. PMID: 17249550 [PubMed - indexed for MEDLINE]Related articles

Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.

Hanein S, Perrault I, Gerber S, Dollfus H, Dufier JL, Feingold J, Munnich A, Bhattacharya S, Kaplan J, Sahel JA, Rozet JM, Leveillard T.

Adv Exp Med Biol. 2006;572:9-14. No abstract available. PMID: 17249548 [PubMed - indexed for MEDLINE]Related articles

Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.

Vieira V, David G, Roche O, de la Houssaye G, Boutboul S, Arbogast L, Kobetz A, Orssaud C, Camand O, Schorderet DF, Munier F, Rossi A, Delezoide AL, Marsac C, Ricquier D, Dufier JL, Menasche M, Abitbol M.

Mol Vis. 2006 Dec 1;12:1448-60.PMID: 17167399 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.

de la Houssaye G, Bieche I, Roche O, Vieira V, Laurendeau I, Arbogast L, Zeghidi H, Rapp P, Halimi P, Vidaud M, Dufier JL, Menasche M, Abitbol M.

BMC Med Genet. 2006 Nov 29;7:82.PMID: 17134502 [PubMed - indexed for MEDLINE]Related articlesFree article

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.

Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N, Dollfus H, Hamel C, Toutain A, Dufier JL, Roche O, Munnich A, Bonnefont JP, Kaplan J, Rozet JM.

Hum Mutat. 2007 Jan;28(1):81-91.PMID: 16969763 [PubMed - indexed for MEDLINE]Related articles

Non-penetrating deep sclerectomy for glaucoma associated with Sturge-Weber syndrome.

Audren F, Abitbol O, Dureau P, Hakiki S, Orssaud C, Bourgeois M, Pierre-Kahn A, Bodemer C, Dufier JL.

Acta Ophthalmol Scand. 2006 Oct;84(5):656-60.PMID: 16965497 [PubMed - indexed for MEDLINE]Related articles

[Severe chloroquine- and hydroxychloroquine-induced retinopathy]

Ingster-Moati I, Bui Quoc E, Crochet M, Orssaud C, Dufier JL, Roche O.

J Fr Ophtalmol. 2006 Jun;29(6):642-50. French. PMID: 16885894 [PubMed - indexed for MEDLINE]Related articlesFree article

[Congenital cataract: general review]

Roche O, Beby F, Orssaud C, Dupont Monod S, Dufier JL.

J Fr Ophtalmol. 2006 Apr;29(4):443-55. Review. French. PMID: 16885815 [PubMed - indexed for MEDLINE]Related articlesFree article

Delayed internal ophthalmoplegia and amblyopia following chickenpox.

Orssaud C, Roche O, El Dirani H, Dufier JL.

Eur J Pediatr. 2006 Oct;165(10):728-9. Epub 2006 May 12.PMID: 16691403 [PubMed - indexed for MEDLINE]Related articles

Eight previously unidentified mutations found in the OA1 ocular albinism gene.

Mayeur H, Roche O, Vêtu C, Jaliffa C, Marchant D, Dollfus H, Bonneau D, Munier FL, Schorderet DF, Levin AV, Héon E, Sutherland J, Lacombe D, Said E, Mezer E, Kaplan J, Dufier JL, Marsac C, Menasche M, Abitbol M.

BMC Med Genet. 2006 Apr 28;7:41.PMID: 16646960 [PubMed - indexed for MEDLINE]Related articlesFree article

Persisting reversed clock syndrome.

Orssaud C, Halimi P, Le Jeunne C, Dufier JL.

Behav Neurol. 2005;16(4):233-6.PMID: 16518014 [PubMed - indexed for MEDLINE]Related articles

USH1A: chronicle of a slow death.

Gerber S, Bonneau D, Gilbert B, Munnich A, Dufier JL, Rozet JM, Kaplan J.

Am J Hum Genet. 2006 Feb;78(2):357-9. No abstract available. PMID: 16400615 [PubMed - indexed for MEDLINE]Related articlesFree article

[Computer-assisted diagnosis and therapy for glaucoma]

Paycha F, Nepoux G, Roche O, Dureau P, Uteza Y, Dufier JL.

J Fr Ophtalmol. 2005 Apr;28(4):396-400. French. PMID: 15973201 [PubMed - indexed for MEDLINE]Related articlesFree article

[Hereditary macular dystrophies]

Rozet JM, Gerber S, Ducroq D, Hamel C, Dufier JL, Kaplan J.

J Fr Ophtalmol. 2005 Jan;28(1):113-24. Review. French. PMID: 15767907 [PubMed - indexed for MEDLINE]Related articlesFree article

[Leber congenital amaurosis: comprehensive survey of genetic heterogeneity. A clinical definition update]

Hanein S, Perrault I, Gerber S, Tanguy G, Hamel C, Dufier JL, Rozet JM, Kaplan J.

J Fr Ophtalmol. 2005 Jan;28(1):98-105. Review. French. PMID: 15767905 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype.

Perrault I, Hanein S, Gerber S, Lebail B, Vlajnik P, Barbet F, Ducroq D, Dufier JL, Munnich A, Kaplan J, Rozet JM.

Hum Mutat. 2005 Feb;25(2):222.PMID: 15643614 [PubMed - indexed for MEDLINE]Related articles

A third locus for dominant optic atrophy on chromosome 22q.

Barbet F, Hakiki S, Orssaud C, Gerber S, Perrault I, Hanein S, Ducroq D, Dufier JL, Munnich A, Kaplan J, Rozet JM.

J Med Genet. 2005 Jan;42(1):e1. No abstract available. PMID: 15635063 [PubMed - indexed for MEDLINE]Related articlesFree article

[Ocular injuries and childbirth]

Regis A, Dureau P, Uteza Y, Roche O, Dufier JL.

J Fr Ophtalmol. 2004 Nov;27(9 Pt 1):987-93. Review. French. PMID: 15557859 [PubMed - indexed for MEDLINE]Related articlesFree article

[Managing of retinopathy of prematurity in a tertiary center]

Bui Quoc E, Roche O, Hakiki S, Dufier JL.

J Fr Ophtalmol. 2004 Oct;27(8):883-9. French. PMID: 15547468 [PubMed - indexed for MEDLINE]Related articlesFree article

Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.

Baumgartner MR, Rabier D, Nassogne MC, Dufier JL, Padovani JP, Kamoun P, Valle D, Saudubray JM.

Eur J Pediatr. 2005 Jan;164(1):31-6. Epub 2004 Oct 28.PMID: 15517380 [PubMed - indexed for MEDLINE]Related articles

[Early therapeutic trials for retinitis pigmentosa]

Dufier JL.

Bull Acad Natl Med. 2003;187(9):1685-92; discussion 1692-4. Review. French. PMID: 15369238 [PubMed - indexed for MEDLINE]Related articles

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

Perrault I, Hanein S, Gerber S, Barbet F, Ducroq D, Dollfus H, Hamel C, Dufier JL, Munnich A, Kaplan J, Rozet JM.

Am J Hum Genet. 2004 Oct;75(4):639-46. Epub 2004 Aug 20.PMID: 15322982 [PubMed - indexed for MEDLINE]Related articlesFree article

Leber congenital amaurosis--genotyping required for possible inclusion in a clinical trial.

Perrault I, Gerber S, Hanein S, Picaud S, Rozet JM, Dufier JL, Munnich A, Sahel J, Kaplan J.

Adv Exp Med Biol. 2003;533:69-77. Review. No abstract available. PMID: 15180249 [PubMed - indexed for MEDLINE]Related articles