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Jean-Louis Dufier

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Chrystal Gaertner; Charlotte Creux; Jean-Louis Dufier; Marie-Andrée Espinasse-Berrod; Christophe Orssaud; Zoï Kapoula
Benefit of bi-ocular visual stimulation for postural control in children with strabismus.
Chrystal Gaertner; Charlotte Creux; Jean-Louis Dufier; Marie-Andrée Espinasse-Berrod; Christophe Orssaud; Zoï Kapoula
Postural control in nonamblyopic children with early-onset strabismus.
Matthieu P Robert; Olivier Roche; Isabelle Ingster-Moati; Manoelle Kossorotoff; Nathalie Boddaert; Valentine Brousse; Mariane de Montalembert; Jean-Louis Dufier; Céline Faure
Asymptomatic atrophy of the temporal median raphe of the retina associated with cerebral vasculopathy in homozygous sickle cell disease.

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2013: Chrystal Gaertner; Charlotte Creux; Jean-Louis Dufier; Marie-Andrée Espinasse-Berrod; Christophe Orssaud; Zoï Kapoula
Benefit of bi-ocular visual stimulation for postural control in children with strabismus.
PloS one 2013;8(4):e60341.
2013: Chrystal Gaertner; Charlotte Creux; Jean-Louis Dufier; Marie-Andrée Espinasse-Berrod; Christophe Orssaud; Zoï Kapoula
Postural control in nonamblyopic children with early-onset strabismus.
Investigative ophthalmology & visual science 2013;54(1):529-36.
2012: Matthieu P Robert; Olivier Roche; Isabelle Ingster-Moati; Manoelle Kossorotoff; Nathalie Boddaert; Valentine Brousse; Mariane de Montalembert; Jean-Louis Dufier; Céline Faure
Asymptomatic atrophy of the temporal median raphe of the retina associated with cerebral vasculopathy in homozygous sickle cell disease.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2012;16(4):394-7.
2012: Leah R Fuchs; Isabelle Ingster-Moati; Matthieu Robert; Lucia Couette; Pascale de Lonlay; Jean-Louis Dufier; Scott E Brodie
Ocular manifestations of cobalamin C type methylmalonic aciduria with homocystinuria.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2012;16(4):370-5.
2011: Christophe Orssaud; Jean-Louis Dufier
[Importance of new examinations in the management of visual impairment].
La Revue du praticien 2011;61(9):1274-5.
2011: Marie-Hélène Quentien; Véronique Vieira; Maurice Menasche; Jean-Louis Dufier; Jean-Paul Herman; Alain Enjalbert; Marc Abitbol; Thierry Brue
Truncation of PITX2 differentially affects its activity on physiological targets.
Journal of molecular endocrinology 2011;46(1):9-19.
2011: Laurence Vaivre-Douret; Bernard Golse; Isabelle Ingster-Moati; Christophe Lalanne; Nathalie Boddaert; Dominique Cabrol; Jean-Louis Dufier; Bruno Falissard
Subtypes of developmental coordination disorder: research on their nature and etiology.
Developmental neuropsychology 2011;36(5):614-43.
2010: Christophe Orssaud; Olivier Roche; Gilles Renard; Jean-Louis Dufier
Carotid artery dissection revealed by an oculosympathetic spasm.
The Journal of emergency medicine 2010;39(5):586-8.
2010: Olivier Roche; Marc Putterman; Julie Salomon; Florence Lacaille; Nicole Brousse; Olivier Goulet; Jean-Louis Dufier
Superficial punctate keratitis and conjunctival erosions associated with congenital tufting enteropathy.
American journal of ophthalmology 2010;150(1):116-121.e1.
2010: Jean-Louis Dufier
[Under cover penetrating keratoplasty: a safer technique, especially for children].
Bulletin de l'Académie nationale de médecine 2010;194(2):409-13; discussion 413-4.
2009: Isabelle Ingster-Moati; Laurence Vaivre-Douret; E Bui Quoc; Eliane Albuisson; Jean-Louis Dufier; Bernard Golse
Vertical and horizontal smooth pursuit eye movements in children: a neuro-developmental study.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2009;13(4):362-6.
2009: Christophe Orssaud; Isabelle Ingster-Moati; Olivier Roche; E Bui Quoc; Jean-Louis Dufier
Familial congenital oculomotor apraxia: clinical and electro-oculographic features.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2009;13(4):370-2.
2009: Sylvain Hanein; Isabelle Perrault; Olivier Roche; Sylvie Gerber; Noman Khadom; Marlène Rio; Nathalie Boddaert; Marc Jean-Pierre; Nora Brahimi; Valérie Serre; Dominique Chretien; Nathalie Delphin; Lucas Fares-Taie; Sahran Lachheb; Agnès Rotig; Françoise Meire; Arnold Munnich; Jean-Louis Dufier; Josseline Kaplan; Jean-Michel Rozet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.
American journal of human genetics 2009;84(4):493-8.
2008: Olivier Roche; Francis Beby; Jean-Louis Dufier; Cameron F Parsa
Descemet membrane rupture accompanied by stromal clefting in congenital glaucoma.
Archives of ophthalmology 2008;126(8):1163-4.
2008: Rajalakshmidinesh B; A Dansault; V Vieira; G de la Houssaye; E Lacassagne; A Kobetz; L Arbogast; Jean-Louis Dufier; Joe B Blumer; M Menasche; marc Mordekhaï ABITBOL
Analysis of partner of inscuteable (mPins) expression in the developing mouse eye.
Molecular vision 2008;14():2575-96.
2008: G De la Houssaye; V Vieira; C Masson; F Beermann; Jean-Louis Dufier; M Menasche; marc Mordekhaï ABITBOL
ETS-1 and ETS-2 are upregulated in a transgenic mouse model of pigmented ocular neoplasm.
Molecular vision 2008;14():1912-28.
2008: B Dufay-Dupar; M-A Espinasse-Berrod; Jean-Louis Dufier
[Evaluation of the results of 12-mm recession of the inferior oblique muscle in superior oblique palsy: retrospective study in six patients].
Journal français d'ophtalmologie 2008;31(1):24-9.
2008: Sylvain Hanein; Isabelle Perrault; Sylvie Gerber; Nathalie Delphin; David Benezra; Stavit A Shalev; Rivka Carmi; Josué Feingold; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet; Marc Jeanpierre
Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example.
European journal of human genetics : EJHG 2008;16(1):115-23.
2007: Sylvie Gerber; Sylvain Hanein; Isabelle Perrault; Nathalie Delphin; nisrine aboussair; Corinne Leowski; Jean-Louis Dufier; Olivier Roche; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet
Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.
Human mutation 2007;28(12):1245.
2007: Olivier Roche; Jean-Louis Dufier
[Organic causes of bad visual development in the child].
La Revue du praticien 2007;57(18):2033-8.
2007: Christophe Orssaud; Olivier Roche; Jean-Louis Dufier
Nutritional optic neuropathies.
Journal of the neurological sciences 2007;262(1-2):158-64.
2007: Olivier Roche; Francis Beby; Afshin Parsa; Christophe Orssaud; Jean-Louis Dufier; Cameron F Parsa
Nonpenetrating external trabeculectomy for congenital glaucoma: a retrospective study.
Ophthalmology 2007;114(11):1994-9.
2007: Véronique Vieira; Guillaume de la Houssaye; Anouk Dansault; Elodie Perez; Olivier Roche; Jean-Louis Dufier; Cécile Marsac; Maurice Menasche; marc Mordekhaï ABITBOL
Novel human pathological mutations. Gene symbol: FZD4. Disease: familial exudative vitreoretinopathy.
Human genetics 2007;121(5):650.
2007: Olivier Roche; F Keita Sylla; Francis Beby; Christophe Orssaud; Jean-Louis Dufier
[Persistence and hyperplasia of primary vitreous].
Journal français d'ophtalmologie 2007;30(6):647-57.
2007: Olivier Roche; Christophe Orssaud; Francis Beby; F Keita Sylla; L Allali; Jean-Louis Dufier
[Persistent hyperplastic primary vitreous: a retrospective study].
Journal français d'ophtalmologie 2007;30(5):483-91.
2007: Isabelle Perrault; Nathalie Delphin; Sylvain Hanein; Sylvie Gerber; Jean-Louis Dufier; Olivier Roche; Sabine Defoort-Dhellemmes; Hélène Dollfus; Elisa Fazzi; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Human mutation 2007;28(4):416.
2007: Christophe Orssaud; Jean-Louis Dufier
[Diagnosis of visual impairment].
La Revue du praticien 2007;57(5):543-9.
2007: Dominique Marchant; K Yu; Karine Bigot; Olivier Roche; A Germain; Dominique Bonneau; Valérie Drouin-Garraud; Daniel F Schorderet; Francis Munier; D Schmidt; P Le Neindre; Cécile Marsac; Maurice Menasche; Jean-Louis Dufier; Rodolphe Fischmeister; H Criss Hartzell; marc Mordekhaï ABITBOL
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy.
Journal of medical genetics 2007;44(3):e70.
2007: Anouk Dansault; Gabriel David; Claire Schwartz; Carolina Jaliffa; Véronique Vieira; Guillaume de la Houssaye; Karine Bigot; Françise Catin; Laurent Tattu; Catherine Chopin; Philippe Halimi; Olivier Roche; Nicole Van Regemorter; Francis Munier; Daniel F Schorderet; Jean-Louis Dufier; Cécile Marsac; Daniel Ricquier; Maurice Menasche; Alfred Penfornis; marc Mordekhaï ABITBOL
Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.
Molecular vision 2007;13():511-23.
2007: Olivier Roche; Christophe Orssaud; Francis Beby; S Dupont Monod; W Roquet; Jean-Louis Dufier
[Ultrasound biomicroscopy and physiopathology of congenital iris cysts].
Journal français d'ophtalmologie 2007;30(1):25-30.
2007: Valérie Pelletier; Marguerite Jambou; Nathalie Delphin; Elena Zinovieva; Morgane Stum; Nadine Gigarel; Hélène Dollfus; Christian Hamel; Annick Toutain; Jean-Louis Dufier; Olivier Roche; Arnold Munnich; Jean-Paul Bonnefont; Josseline Kaplan; Jean-Michel Rozet
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
Human mutation 2007;28(1):81-91.
2006: François Audren; Olivia Abitbol; Pascal Dureau; Sélim Hakiki; Christophe Orssaud; Marie Bourgeois; Alain Pierre-Kahn; Christine Bodemer; Jean-Louis Dufier
Non-penetrating deep sclerectomy for glaucoma associated with Sturge-Weber syndrome.
Acta ophthalmologica Scandinavica 2006;84(5):656-60.
2006: Christophe Orssaud; Olivier Roche; Hussein El Dirani; Jean-Louis Dufier
Delayed internal ophthalmoplegia and amblyopia following chickenpox.
European journal of pediatrics 2006;165(10):728-9.
2006: I Ingster-Moati; E Bui Quoc; M Crochet; Christophe Orssaud; Jean-Louis Dufier; Olivier Roche
[Severe chloroquine- and hydroxychloroquine-induced retinopathy].
Journal français d'ophtalmologie 2006;29(6):642-50.
2006: Olivier Roche; Francis Beby; Christophe Orssaud; S Dupont Monod; Jean-Louis Dufier
[Congenital cataract: general review].
Journal français d'ophtalmologie 2006;29(4):443-55.
2006: Sylvie Gerber; Dominique Bonneau; Brigitte Gilbert; Arnold Munnich; Jean-Louis Dufier; Jean-Michel Rozet; Josseline Kaplan
USH1A: chronicle of a slow death.
American journal of human genetics 2006;78(2):357-9.
2006: Fabienne Barbet; Sylvie Gerber; Sélim Hakiki; Isabelle Perrault; Sylvain Hanein; Dominique Ducroq; Gaëlle Tanguy; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet
A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22.
Advances in experimental medicine and biology 2006;572():21-7.
2006: Sylvain Hanein; Isabelle Perrault; Sylvie Gerber; Hélène Dollfus; Jean-Louis Dufier; Josué Feingold; Arnold Munnich; Shomi Bhattacharya; Josseline Kaplan; José-Alain Sahel; Jean-Michel Rozet; Thierry Leveillard
Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.
Advances in experimental medicine and biology 2006;572():9-14.
2006: Véronique Vieira; Gabriel David; Olivier Roche; Guillaume de la Houssaye; Sandrine Boutboul; Laurence Arbogast; Alexandra Kobetz; Christophe Orssaud; Olivier Camand; Daniel F Schorderet; Francis Munier; Annick Rossi; Anne-Lise Delezoide; Cécile Marsac; Daniel Ricquier; Jean-Louis Dufier; Maurice Menasche; marc Mordekhaï ABITBOL
Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.
Molecular vision 2006;12():1448-60.
2006: Guillaume de la Houssaye; Ivan Bieche; Olivier Roche; Véronique Vieira; Ingrid Laurendeau; Laurence Arbogast; Hatem Zeghidi; Philippe Rapp; Philippe Halimi; Michel Vidaud; Jean-Louis Dufier; Maurice Menasche; marc Mordekhaï ABITBOL
Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.
BMC medical genetics 2006;7():82.
2006: Hélène Mayeur; Olivier Roche; Christelle Vêtu; Carolina Jaliffa; Dominique Marchant; Hélène Dollfus; Dominique Bonneau; Francis L Munier; Daniel F Schorderet; Alex V Levin; Elise Héon; Joanne Sutherland; Didier Lacombe; Edith Said; Eedy Mezer; Josseline Kaplan; Jean-Louis Dufier; Cécile Marsac; Maurice Menasche; marc Mordekhaï ABITBOL
Eight previously unidentified mutations found in the OA1 ocular albinism gene.
BMC medical genetics 2006;7():41.
2005: F Paycha; G Nepoux; Olivier Roche; Pascal Dureau; Yves Uteza; Jean-Louis Dufier
[Computer-assisted diagnosis and therapy for glaucoma].
Journal français d'ophtalmologie 2005;28(4):396-400.
2005: Isabelle Perrault; Sylvain Hanein; Sylvie Gerber; Beatrice Lebail; Patrice Vlajnik; Fabienne Barbet; Dominique Ducroq; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet
A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype.
Human mutation 2005;25(2):222.
2005: Christophe Orssaud; Philippe Halimi; Claire Le Jeunne; Jean-Louis Dufier
Persisting reversed clock syndrome.
Behavioural neurology 2005;16(4):233-6.
2005: Jean-Michel Rozet; Sylvie Gerber; Dominique Ducroq; Christian Hamel; Jean-Louis Dufier; Josseline Kaplan
[Hereditary macular dystrophies].
Journal français d'ophtalmologie 2005;28(1):113-24.
2005: Sylvain Hanein; Isabelle Perrault; Sylvie Gerber; Gaëlle Tanguy; Christian Hamel; Jean-Louis Dufier; Jean-Michel Rozet; Josseline Kaplan
[Leber congenital amaurosis: comprehensive survey of genetic heterogeneity. A clinical definition update].
Journal français d'ophtalmologie 2005;28(1):98-105.
2005: Fabienne Barbet; Sélim Hakiki; Christophe Orssaud; Sylvie Gerber; Isabelle Perrault; Sylvain Hanein; Dominique Ducroq; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet
A third locus for dominant optic atrophy on chromosome 22q.
Journal of medical genetics 2005;42(1):e1.
2005: Matthias R Baumgartner; Daniel Rabier; Marie-Cécile Nassogne; Jean-Louis Dufier; Jean-Paul Padovani; Pierre Kamoun; David Valle; Jean-Marie Saudubray
Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.
European journal of pediatrics 2005;164(1):31-6.
2004: A Regis; Pascal Dureau; Yves Uteza; Olivier Roche; Jean-Louis Dufier
[Ocular injuries and childbirth].
Journal français d'ophtalmologie 2004;27(9 Pt 1):987-93.
2004: E Bui Quoc; Olivier Roche; Sélim Hakiki; Jean-Louis Dufier
[Managing of retinopathy of prematurity in a tertiary center].
Journal français d'ophtalmologie 2004;27(8):883-9.
2004: Isabelle Perrault; Sylvain Hanein; Sylvie Gerber; Fabienne Barbet; Dominique Ducroq; Hélène Dollfus; Christian Hamel; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
American journal of human genetics 2004;75(4):639-46.
2004: Sylvain Hanein; Isabelle Perrault; Sylvie Gerber; Gaëlle Tanguy; Fabienne Barbet; Dominique Ducroq; Patrick Calvas; Hélène Dollfus; Christian Hamel; Tuija Lopponen; Francis Munier; Louisa Santos; Stavit A Shalev; Dimitrios I Zafeiriou; Jean-Louis Dufier; Arnold Munnich; Jean-Michel Rozet; Josseline Kaplan
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Human mutation 2004;23(4):306-17.
2003: Ghislaine Royer; Sylvain Hanein; Valérie Raclin; Nadine Gigarel; Jean-Michel Rozet; Arnold Munnich; Julie Steffann; Jean-Louis Dufier; Josseline Kaplan; Jean-Paul Bonnefont
NDP gene mutations in 14 French families with Norrie disease.
Human mutation 2003;22(6):499.
2003: Fabienne Barbet; Sylvie Gerber; Sélim Hakiki; Isabelle Perrault; Sylvain Hanein; Dominique Ducroq; Gaëlle Tanguy; Jean-Louis Dufier; Arnold Munnich; Jean-Michel Rozet; Josseline Kaplan
A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q.
European journal of human genetics : EJHG 2003;11(12):966-71.
2003: Eric Dufour; Emeline Nandrot; Dominique Marchant; Loïc Van Den Berghe; Stéphanie Gadin; Moussa Issilame; Jean-Louis Dufier; Cécile Marsac; Deborah Carper; Maurice Menasche; marc Mordekhaï ABITBOL
Identification of novel genes and altered signaling pathways in the retinal pigment epithelium during the Royal College of Surgeons rat retinal degeneration.
Neurobiology of disease 2003;14(2):166-80.
2003: Vincent Pierre-Kahn; Olivier Roche; Pascal Dureau; Yves Uteza; Dominique Renier; Alain Pierre-Kahn; Jean-Louis Dufier
Ophthalmologic findings in suspected child abuse victims with subdural hematomas.
Ophthalmology 2003;110(9):1718-23.
2003: Olivier Camand; Sandrine Boutboul; Laurence Arbogast; Olivier Roche; Claude Sternberg; Joanne Sutherland; Alex Levin; Elise Héon; Maurice Menasche; Jean-Louis Dufier; marc Mordekhaï ABITBOL
Mutational analysis of the OA1 gene in ocular albinism.
Ophthalmic genetics 2003;24(3):167-73.
2003: Christophe Orssaud; Jean-Louis Dufier; Dominique P Germain
Ocular manifestations in Fabry disease: a survey of 32 hemizygous male patients.
Ophthalmic genetics 2003;24(3):129-39.
2003: Isabelle Perrault; Sylvain Hanein; Sylvie Gerber; Fabienne Barbet; Jean-Louis Dufier; Arnold Munnich; Jean-Michel Rozet; Josseline Kaplan
Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.
Journal of medical genetics 2003;40(7):e90.
2003: Pascal Dureau; Michel Broyer; Jean-Louis Dufier
Evolution of ocular manifestations in nephropathic cystinosis: a long-term study of a population treated with cysteamine.
Journal of pediatric ophthalmology and strabismus 2003;40(3):142-6.
2003: Jean-Louis Dufier
[Early therapeutic trials for retinitis pigmentosa].
Bulletin de l'Académie nationale de médecine 2003;187(9):1685-92; discussion 1692-4.
2003: Isabelle Perrault; Sylvie Gerber; Sylvain Hanein; Serge Picaud; Jean-Michel Rozet; Jean-Louis Dufier; Arnold Munnich; José Sahel; Josseline Kaplan
Leber congenital amaurosis--genotyping required for possible inclusion in a clinical trial.
Advances in experimental medicine and biology 2003;533():69-77.
2002: Sylvie Gerber; Isabelle Perrault; Sylvain Hanein; Stavit A Shalev; Joël Zlotogora; Fabienne Barbet; Dominique Ducroq; Jean-Louis Dufier; Arnold Munnich; Jean-Michel Rozet; Josseline Kaplan
A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis.
Ophthalmic genetics 2002;23(4):225-35.
2002: Latifa Hilal; Emeline Nandrot; Mohamed Belmekki; Mohamed Chefchaouni; Siham El Bacha; Bouchra Benazzouz; Yassir Hajaji; Olivier Gribouval; Jean-Louis Dufier; marc Mordekhaï ABITBOL; Amina Berraho
Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts.
Ophthalmic genetics 2002;23(4):199-208.
2002: Dominique Ducroq; Jean-Michel Rozet; Sylvie Gerber; Isabelle Perrault; Dabienne Barbet; Sylvain Hanein; Selim Hakiki; Jean-Louis Dufier; Arnold Munnich; Christian Hamel; Josseline Kaplan
The ABCA4 gene in autosomal recessive cone-rod dystrophies.
American journal of human genetics 2002;71(6):1480-2.
2002: Dominique Marchant; Karïn Gogat; Pascal Dureau; Karine M Sainton; Claude Sternberg; Stéphanie Gadin; Hélène Dollfus; G Brasseur; Jean-Claude Hache; Viviane Dumur; V Puech; Francis Munier; Daniel F Schorderet; Cécile Marsac; Maurice Menasche; Jean-Louis Dufier; marc Mordekhaï ABITBOL
Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy.
Ophthalmic genetics 2002;23(3):167-74.
2002: Jean-Michel Rozet; Isabelle Perrault; Nadine Gigarel; Eric H Souied; I Ghazi; Sylvie Gerber; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan
Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene.
Journal of medical genetics 2002;39(4):284-5.
2002: Olivier Roche; Pascal Dureau; Yves Uteza; Jean-Louis Dufier
[Congenital megalocornea].
Journal français d'ophtalmologie 2002;25(3):312-8.
2001: Pascal Dureau; Tania Attie-Bitach; Rémi Salomon; O Bettembourg; Jeanne Amiel; Yves Uteza; Jean-Louis Dufier
Renal coloboma syndrome.
Ophthalmology 2001;108(10):1912-6.
2001: Sylvie Gerber; Isabelle Perrault; Sylvain Hanein; Fabienne Barbet; Dominique Ducroq; I Ghazi; D Martin-Coignard; Corinne Leowski; T Homfray; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.
European journal of human genetics : EJHG 2001;9(8):561-71.
2001: J L Bourges; Pascal Dureau; Yves Uteza; Olivier Roche; Jean-Louis Dufier
[Characteristics of retinal detachment in children].
Journal français d'ophtalmologie 2001;24(4):371-7.
2001: Olivier Camand; Dominique Marchant; Sandrine Boutboul; Marie O Péquignot; Sylvie Odent; Hélène Dollfus; J Sutherland; A Levin; Maurice Menasche; Cécile Marsac; Jean-Louis Dufier; Elise Heon; marc Mordekhaï ABITBOL
Mutation analysis of the tyrosinase gene in oculocutaneous albinism.
Human mutation 2001;17(4):352.
2001: Dominique Marchant; Karïn Gogat; Sandrine Boutboul; Marie O Péquignot; Claude Sternberg; Pascal Dureau; Olivier Roche; Yves Uteza; Jean-Claude Hache; Bernard Puech; V Puech; Viviane Dumur; M Mouillon; Francis L Munier; Daniel F Schorderet; Cécile Marsac; Jean-Louis Dufier; marc Mordekhaï ABITBOL
Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.
Human mutation 2001;17(3):235.
2001: Laurence Le Gat; Sébastien Bonnel; Karïn Gogat; M Brizard; Loïc Van Den Berghe; Alexandra Kobetz; Stéphanie Gadin; Pascal Dureau; Jean-Louis Dufier; marc Mordekhaï ABITBOL; Maurice Menasche
Prominent beta-5 gene expression in the cardiovascular system and in the cartilaginous primordiae of the skeleton during mouse development.
Cell communication & adhesion 2001;8(3):99-112.
2001: Pascal Dureau; Sébastien Bonnel; Maurice Menasche; Jean-Louis Dufier; marc Mordekhaï ABITBOL
Quantitative analysis of intravitreal injections in the rat.
Current eye research 2001;22(1):74-7.
2000: Sébastien Bonnel; Pascal Dureau; M LeMerrer; Jean-Louis Dufier
SHORT syndrome: a case with high hyperopia and astigmatism.
Ophthalmic genetics 2000;21(4):235-8.
2000: Emeline Nandrot; Eric Dufour; Alexandra C Provost; Marie O Péquignot; Sébastien Bonnel; Karïn Gogat; Dominique Marchant; C Rouillac; B Sépulchre de Condé; M T Bihoreau; C Shaver; Jean-Louis Dufier; Cécile Marsac; M Lathrop; Maurice Menasche; marc Mordekhaï ABITBOL
Homozygous deletion in the coding sequence of the c-mer gene in RCS rats unravels general mechanisms of physiological cell adhesion and apoptosis.
Neurobiology of disease 2000;7(6 Pt B):586-99.
2000: N Hamelin; F Becquet; Pascal Dureau; Alain Pierre-Kahn; Jean-Louis Dufier
[Clinical features of gliomas of the chiasma. A retrospective study of a series of 18 patients].
Journal français d'ophtalmologie 2000;23(7):694-8.
2000: M Neuner-Jehle; L V Berghe; Sébastien Bonnel; Yves Uteza; F Benmeziane; J S Rouillot; Dominique Marchant; Alexandra Kobetz; Jean-Louis Dufier; Maurice Menasche; marc Mordekhaï ABITBOL
Ocular cell transfection with the human basic fibroblast growth factor gene delays photoreceptor cell degeneration in RCS rats.
Human gene therapy 2000;11(13):1875-90.
2000: Isabelle Perrault; Jean-Michel Rozet; Sylvie Gerber; I Ghazi; Dominique Ducroq; Eric H Souied; Corinne Leowski; M Bonnemaison; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan
Spectrum of retGC1 mutations in Leber's congenital amaurosis.
European journal of human genetics : EJHG 2000;8(8):578-82.
2000: Pascal Dureau; L Legat; M Neuner-Jehle; Sébastien Bonnel; S Pecqueur; marc Mordekhaï ABITBOL; Jean-Louis Dufier
Quantitative analysis of subretinal injections in the rat.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2000;238(7):608-14.
1999: C Rouillac; Bernard Aral; Françoise Fouque; Dominique Marchant; Jean-Marie Saudubray; Y Dumez; G Lindsay; marc Mordekhaï ABITBOL; Jean-Louis Dufier; Cécile Marsac; Chantal Benelli
First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex.
Prenatal diagnosis 1999;19(12):1160-4.
1999: Jean-Michel Rozet; Sylvie Gerber; Eric H Souied; Dominique Ducroq; Isabelle Perrault; I Ghazi; Gisele SOUBRANE; Gabriel Coscas; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan
The ABCR gene: a major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly.
Molecular genetics and metabolism 1999;68(2):310-5.
1999: Isabelle Perrault; Jean-Michel Rozet; Sylvie Gerber; I Ghazi; Corinne Leowski; Dominique Ducroq; Eric H Souied; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan
Leber congenital amaurosis.
Molecular genetics and metabolism 1999;68(2):200-8.
1999: Eric H Souied; Dominique Ducroq; Sylvie Gerber; I Ghazi; Jean-Michel Rozet; Isabelle Perrault; Arnold Munnich; Jean-Louis Dufier; Gabriel Coscas; Gisele SOUBRANE; Josseline Kaplan
Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study.
American journal of ophthalmology 1999;128(2):173-8.
1999: Jean-Michel Rozet; Sylvie Gerber; I Ghazi; Isabelle Perrault; Dominique Ducroq; Eric H Souied; A Cabot; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan
Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.
Journal of medical genetics 1999;36(6):447-51.
1999: J Tixier; Pascal Dureau; F Becquet; Jean-Louis Dufier
[Deep sclerectomy in congenital glaucoma. Preliminary results].
Journal français d'ophtalmologie 1999;22(5):545-8.
1999: O Auzerie; P M Le; Pascal Dureau; M Putterman; F Becquet; Jean-Louis Dufier
[Persistence of the pupillary membrane. Apropos of 3 cases].
Journal français d'ophtalmologie 1999;22(5):522-4.
1999: Isabelle Perrault; Jean-Michel Rozet; I Ghazi; Corinne Leowski; M Bonnemaison; Sylvie Gerber; Dominique Ducroq; A Cabot; Eric H Souied; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.
American journal of human genetics 1999;64(4):1225-8.
1999: Yves Uteza; J S Rouillot; Alexandra Kobetz; Dominique Marchant; S Pecqueur; E Arnaud; Hervé Prats; J Honiger; Jean-Louis Dufier; marc Mordekhaï ABITBOL; M Neuner-Jehle
Intravitreous transplantation of encapsulated fibroblasts secreting the human fibroblast growth factor 2 delays photoreceptor cell degeneration in Royal College of Surgeons rats.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(6):3126-31.
1999: F Goutières; H Dollfus; F Becquet; Jean-Louis Dufier
Extensive brain calcification in two children with bilateral Coats' disease.
Neuropediatrics 1999;30(1):19-21.
1999: Isabelle Quéré; V Paul; C Rouillac; Charles Janbon; Jacqueline London; J Demaille; Pierre Kamoun; Jean-Louis Dufier; marc Mordekhaï ABITBOL; Jean-François Chassé
Spatial and temporal expression of the cystathionine beta-synthase gene during early human development.
Biochemical and biophysical research communications 1999;254(1):127-37.
1998: I Sahly; Karïn Gogat; Alexandra Kobetz; Dominique Marchant; Maurice Menasche; M Castel; F Revah; Jean-Louis Dufier; M Guerre-Millo; marc Mordekhaï ABITBOL
Prominent neuronal-specific tub gene expression in cellular targets of tubby mice mutation.
Human molecular genetics 1998;7(9):1437-47.
1998: Jean-Michel Rozet; Sylvie Gerber; Eric H Souied; Isabelle Perrault; S Châtelin; I Ghazi; Corinne Leowski; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
European journal of human genetics : EJHG 1998;6(3):291-5.
1998: C Rouillac; Olivier Roche; Dominique Marchant; L Bachner; Alexandra Kobetz; P J Toulemont; Christophe Orssaud; M Urvoy; Sylvie Odent; B Le Marec; marc Mordekhaï ABITBOL; Jean-Louis Dufier
Mapping of a congenital microcoria locus to 13q31-q32.
American journal of human genetics 1998;62(5):1117-22.
1998: Isabelle Perrault; S Châtelin; Vanessa Nancy; Jean-Michel Rozet; Sylvie Gerber; I Ghazi; Eric H Souied; Jean-Louis Dufier; Arnold Munnich; Jean de Gunzburg; Josseline Kaplan
Exclusion of five subunits of cGMP phosphodiesterase in Leber's congenital amaurosis.
Human genetics 1998;102(3):322-6.
1998: Hélène Dollfus; O Joanny-Flinois; M Doco-Fenzy; L Veyre; L Joanny-Flinois; M Khoury; Philippe Jonveaux; marc Mordekhaï ABITBOL; Jean-Louis Dufier
Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation.
American journal of ophthalmology 1998;125(3):397-9.
1998: M Neuner-Jehle; Francis Munier; Alexandra Kobetz; I Sahly; Yves Uteza; A Mermoud; Daniel F Schorderet; Jean-Louis Dufier; marc Mordekhaï ABITBOL
Identification of novel PAX6 mutations in two families with bilateral aniridia. Mutations in brief no. 167. Online.
Human mutation 1998;12(2):138.
1997: Eric H Souied; B Segues; I Ghazi; Jean-Michel Rozet; S Chatelin; Sylvie Gerber; Isabelle Perrault; A Michel-Awad; M L Briard; G Plessis; Jean-Louis Dufier; Arnold Munnich; Josseline Kaplan
Severe manifestations in carrier females in X linked retinitis pigmentosa.
Journal of medical genetics 1997;34(10):793-7.
1997: I Sahly; Aziz El-Amraoui; marc Mordekhaï ABITBOL; Christine Petit; Jean-Louis Dufier
Expression of myosin VIIA during mouse embryogenesis.
Anatomy and embryology 1997;196(2):159-70.
1996: Hélène Dollfus; L Vinikoff; Dominique Renier; Jean-Louis Dufier
Insidious craniosynostosis and chronic papilledema in childhood.
American journal of ophthalmology 1996;122(6):910-1.
1996: Isabelle Perrault; Jean-Michel Rozet; Patrick Calvas; Sylvie Gerber; A Camuzat; Hélène Dollfus; S Châtelin; Eric H Souied; I Ghazi; Corinne Leowski; M Bonnemaison; D Le Paslier; J Frézal; Jean-Louis Dufier; Steven J Pittler; Arnold Munnich; Josseline Kaplan
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.
Nature genetics 1996;14(4):461-4.
1996: François Doz; Martine Peter; G Schleiermacher; Philippe Vielh; Pierre Validire; M Putterman; V Blanquet; Laurence Desjardins; Jean-Louis Dufier; Jean-Michel Zucker; Véronique Mosseri; Gilles Thomas; Henri Magdelénat; Olivier Delattre
N-MYC amplification, loss of heterozygosity on the short arm of chromosome 1 and DNA ploidy in retinoblastoma.
European journal of cancer (Oxford, England : 1990) 1996;32A(4):645-9.
1996: I Sahly; marc Mordekhaï ABITBOL; C Laurent; I Ghazi; F Ribeaudeau; Michel Vekemans; Jean-Louis Dufier
Identification of a novel PAX6 gene mutation in an aniridia patient.
Human mutation 1996;7(4):377.
1995: P Roustan; marc Mordekhaï ABITBOL; C Ménini; F Ribeaudeau; M Gérard; Michel Vekemans; Jacques Mallet; Jean-Louis Dufier
The rat phospholipase C beta 4 gene is expressed at high abundance in cerebellar Purkinje cells.
Neuroreport 1995;6(14):1837-41.
1995: A Camuzat; Hélène Dollfus; Jean-Michel Rozet; Sylvie Gerber; D Bonneau; M Bonnemaison; Marie Louise Briard; Jean-Louis Dufier; I Ghazi; Corinne Leowski
A gene for Leber's congenital amaurosis maps to chromosome 17p.
Human molecular genetics 1995;4(8):1447-52.
1995: Sylvie Gerber; Jean-Michel Rozet; D Bonneau; Eric H Souied; A Camuzat; Jean-Louis Dufier; P Amalric; J Weissenbach; Arnold Munnich; Josseline Kaplan
A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13.
American journal of human genetics 1995;56(2):396-9.
1995: M Gérard; marc Mordekhaï ABITBOL; Anne-Lise Delezoide; Jean-Louis Dufier; Jacques Mallet; Michel Vekemans
PAX-genes expression during human embryonic development, a preliminary report.
Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie 1995;318(1):57-66.
1994: Jean-Louis Dufier; E Yi; A Tiret; A M Prieur
[Ocular involvements in chronic inflammatory diseases in children].
La Revue du praticien 1994;44(19):2573-6.
1994: Eric H Souied; Sylvie Gerber; Jean-Michel Rozet; D Bonneau; Jean-Louis Dufier; I Ghazi; N Philip; Gisele SOUBRANE; Gabriel Coscas; Arnold Munnich
Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.
Human molecular genetics 1994;3(8):1433-4.
1994: D Larget-Piet; Sylvie Gerber; D Bonneau; Jean-Michel Rozet; S Marc; I Ghazi; Jean-Louis Dufier; A David; P Bitoun; J Weissenbach
Genetic heterogeneity of Usher syndrome type 1 in French families.
Genomics 1994;21(1):138-43.
1994: C Orssaud; S Ganem; M Binaghi; D Patarin; M Putterman; C Viens-Bitker; A Boye; Jean-Louis Dufier
Photorefractive keratectomy in 176 eyes: one year follow-up.
Journal of refractive and corneal surgery 1994;10(2 Suppl):S199-205.
1994: N Lepvrier-Guibal; A Tiret; A M Prieur; I Leira; Jean-Louis Dufier
[Uveitis in juvenile chronic arthritis].
Journal français d'ophtalmologie 1994;17(8-9):489-95.
1993: Josseline Kaplan; Sylvie Gerber; D Larget-Piet; Jean-Michel Rozet; Hélène Dollfus; Jean-Louis Dufier; S Odent; A Postel-Vinay; N Janin; Marie Louise Briard
A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1.
Nature genetics 1993;5(3):308-11.
1993: Jean-Louis Dufier; A Tiret
Ocular involvement during chronic inflammatory diseases in children.
Clinical and experimental rheumatology 1993;11 Suppl 9():S53-5.
1992: Josseline Kaplan; Sylvie Gerber; D Bonneau; Jean-Michel Rozet; O Delrieu; Marie Louise Briard; Hélène Dollfus; I Ghazi; Jean-Louis Dufier; J Frézal
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.
Genomics 1992;14(4):979-87.
1991: Josseline Kaplan; Anna Pelet; H Hentati; M Jeanpierre; Marie Louise Briard; H Journel; Arnold Munnich; Jean-Louis Dufier
Contribution to carrier detection and genetic counselling in X linked retinoschisis.
Journal of medical genetics 1991;28(6):383-8.
1990: A Michel-Awad; Josseline Kaplan; Marie Louise Briard; C Turleau; J de Grouchy; Arnold Munnich; Jean-Louis Dufier; J Frezal
[Prenatal diagnosis of various hereditary blinding diseases].
Ophtalmologie : organe de la Société française d'ophtalmologie 1990;4(3):237-9.
1990: N Manderieux; M Putterman; R Brauner; Y De Prost; C Gral; Jean-Louis Dufier; C Haye
[Prevention of graft rejection and disease recurrence with cyclosporin A in keratitis of Whitaker's syndrome].
Bulletin des sociétés d'ophtalmologie de France 1990;90(5):461-3.
1990: N Manderieux; H Dupoisot; M Putterman; A Constans; C Vincent; P Albarede; P de Vernejoul; Jean-Louis Dufier
[Intra-corneal lens implantation: an experimental study in rabbits].
Ophtalmologie : organe de la Société française d'ophtalmologie 1990;4(2):176-7.
1990: Josseline Kaplan; G Guasconi; Jean-Louis Dufier; A Michel-Awad; A David; Arnold Munnich; J Frezal
Exclusion of linkage between D3S47 (C17) and ADRPII gene in two large families of moderate autosomal dominant retinitis pigmentosa: evidence for genetic heterogeneity.
Annales de génétique 1990;33(3):152-4.
1989: N Mandérieux; F Auclin; M Putterman; I Van Kote; X Nassif; Jean-Louis Dufier
[Diagnostic and therapeutic problems posed by a conjunctival site of Kaposi's disease in AIDS].
Bulletin des sociétés d'ophtalmologie de France 1989;89(10):1121-2.
1989: F Auclin; Jean-Louis Dufier; N Manderieux; F Sitruk; B Benoît; P Maroteaux; G Couly; J Aicardi; C Haye
[Optic atrophy in children in Pyle's craniometaphyseal dysplasia].
Bulletin des sociétés d'ophtalmologie de France 1989;89(8-9):923-4.
1989: T Torossian; Jean-Louis Dufier; N Manderieux; S Sitruk; S Blanche; A Fischer; C Griscelli; C Haye
[Optic neuropathy in Purtilo's syndrome].
Bulletin des sociétés d'ophtalmologie de France 1989;89(8-9):927-9.
1989: M Putterman; A Rodallec; Laurence Desjardins; F Auclin; M S De Monteynard; Jean-Louis Dufier; C Haye
[Orbital hemangiopericytoma in children].
Bulletin des sociétés d'ophtalmologie de France 1989;89(5):725-6.
1989: C L Le Jeunne; FC Hugues; Jean-Louis Dufier; Y Munera; L Bringer
Bronchial and cardiovascular effects of ocular topical B-antagonists in asthmatic subjects: comparison of timolol, carteolol, and metipranolol.
Journal of clinical pharmacology 1989;29(2):97-101.
1989: L Nabet; Jean-Louis Dufier; P Cornu; P Junghers; J C Chauvin; M S de Monteynard; N Manderieux; C Haye
[Bilateral occlusion of the central vein of the retina disclosing Waldenström's disease].
Bulletin des sociétés d'ophtalmologie de France 1989;89(1):39-41.
1988: N Manderieux; Jean-Louis Dufier; A Pierrekahn; A Delezoïde; J C Chauvin; C Haye
[Meningioma of the optic nerve in children].
Bulletin des sociétés d'ophtalmologie de France 1988;88(8-9):967-8, 971.
1988: M Putterman; A Rodallec; Laurence Desjardins; M S de Monteynard; C Orssaud; Jean-Louis Dufier; C Haye
[Hemangiopericytoma of the orbit in children].
Bulletin des sociétés d'ophtalmologie de France 1988;88(6-7):771-2.
1988: A Rodallec; Jean-Louis Dufier; C Ernest; C Haye
[Congenital anophthalmos. Control of osteogenesis with an expanding intraorbital prosthesis].
Journal français d'ophtalmologie 1988;11(10):661-8.
1987: Jean-Louis Dufier; H Dupoisot; A Constans; G Daury; P Albarede; P de Vernejoul
[Intracorneal correction of aphakia. Axial and extra-axial aberrations in day and night vision].
Ophtalmologie : organe de la Société française d'ophtalmologie 1987;1(4):435-40.
1987: H Dupoisot; Jean-Louis Dufier; A Constans; P de Vernejoul; P Albarede
Intracorneal correction of aphakia: paraxial approach at null incidence.
Journal of the Optical Society of America. A, Optics and image science 1987;4(9):1831-7.
1987: FC Hugues; C Le Jeunne; Y Munera; Jean-Louis Dufier
[Comparison of the effects of carteolol and metipranolol eyedrops on the ventilatory and cardiovascular functions in asthmatics].
Journal français d'ophtalmologie 1987;10(8-9):485-90.
1985: FC Hugues; C Le Jeunne; Y Munera; Jean-Louis Dufier
[Evaluation of the systemic effects of timolol maleate in eye drops].
Journal français d'ophtalmologie 1985;8(5):389-94.