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1

Visual Impairment in Pseudoxanthoma Elasticum: A Survey of 40 Patients

Orssaud, Christophe, Roche, Olivier, Dufier, Jean-Louis, Germain, Dominique P.

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 97 KB

english, 2015

2

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

Rozet, Jean-Michel, Gerber, Sylvie, Souied, Eric, Perrault, Isabelle, Châtelin, Sophie, Ghazi, Imad, Leowski, Corinne, Dufier, Jean-Louis, Munnich, Arnold, Kaplan, Josseline

Journal:

European Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 119 KB

english, 1998

3

Quantitative analysis of intravitreal injections in the rat

Dureau, Pascal, Bonnel, Sébastien, Menasche, Maurice, Dufier, Jean-Louis, Abitbol, Marc

Journal:

Current Eye Research

Year:

2001

Language:

english

File:

PDF, 159 KB

english, 2001

4

Subtypes of Developmental Coordination Disorder: Research on Their Nature and Etiology

Vaivre-Douret, Laurence, Lalanne, Christophe, Ingster-Moati, Isabelle, Boddaert, Nathalie, Cabrol, Dominique, Dufier, Jean-Louis, Golse, Bernard, Falissard, Bruno

Journal:

Developmental Neuropsychology

Year:

2011

Language:

english

File:

PDF, 516 KB

english, 2011

5

Postural Control in Nonamblyopic Children with Early-Onset Strabismus

Gaertner, Chrystal, Creux, Charlotte, Espinasse-Berrod, Marie-Andrée, Orssaud, Christophe, Dufier, Jean-Louis, Kapoula, Zoï

Journal:

Investigative Ophthalmology & Visual Science

Year:

2013

Language:

english

File:

PDF, 404 KB

english, 2013

6

Histopathologic risk factors in retinoblastoma: A retrospective study of 172 patients treated in a single institution

Fatima Khelfaoui, Pierre Validire, Anne Auperin, Erica Quintana, Jean Michon, Hélène Pacquement, Laurence Desjardins, Bernard Asselain, Pierre Schlienger, Philippe Vielh, Jean-Louis Dufier, Jean-Miche

Journal:

Year:

1996

Language:

english

File:

PDF, 742 KB

english, 1996

7

Identification of a novel PAX6 gene mutation in an Aniridia patient

Iman Sahly, Marc Abitbol, Claudine Laurent, Imad Ghazi, Florence Ribeaudeau, Michel Vekemans, Jean-Louis Dufier

Journal:

Year:

1996

Language:

english

File:

PDF, 119 KB

english, 1996

8

Identification of novel PAX6 mutations in two families with bilateral aniridia

Martin Neuner-Jehle, Francis Munier, Alexandra Kobetz, Iman Sahly, Yves Uteza, André Mermoud, Daniel F. Schorderet, Jean-Louis Dufier, Marc Abitbol

Journal:

Year:

1998

Language:

english

File:

PDF, 158 KB

english, 1998

9

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

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

Journal:

Year:

2007

Language:

english

File:

PDF, 447 KB

english, 2007

10

Mutation analysis of the tyrosinase gene in oculocutaneous albinism

Olivier Camand, Dominique Marchant, Sandrine Boutboul, Marie Péquignot, Sylvie Odent, Hélène Dollfus, Joanne Sutherland, Alex Levin, Maurice Menasche, Cécile Marsac, Jean-Louis Dufier, Elise Heon, Mar

Journal:

Year:

2001

Language:

english

File:

PDF, 33 KB

english, 2001

11

NDP gene mutations in 14 French families with Norrie disease

Ghislaine Royer, Sylvain Hanein, Valérie Raclin, Nadine Gigarel, Jean-Michel Rozet, Arnold Munnich, Julie Steffann, Jean-Louis Dufier, Josseline Kaplan, Jean-Paul Bonnefont

Journal:

Year:

2003

Language:

english

File:

PDF, 29 KB

english, 2003

12

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

Isabelle Perrault, Sylvain Hanein, Sylvie Gerber, Beatrice Lebail, Patrice Vlajnik, Fabienne Barbet, Dominique Ducroq, Jean-Louis Dufier, Arnold Munnich, Josseline Kaplan, Jean-Michel Rozet

Journal:

Year:

2005

Language:

english

File:

PDF, 570 KB

english, 2005

13

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

Sylvie Gerber, Sylvain Hanein, Isabelle Perrault, Nathalie Delphin, Nisrine Aboussair, Corinne Leowski, Jean-Louis Dufier, Olivier Roche, Arnold Munnich, Josseline Kaplan, Jean-Michel Rozet

Journal:

Year:

2007

Language:

english

File:

PDF, 74 KB

english, 2007

14

Identification of the first intragenic deletion of thePITX2gene causing an Axenfeld-Rieger Syndrome: case report

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 M

Journal:

BMC Medical Genetics

Year:

2006

Language:

english

File:

PDF, 1.48 MB

english, 2006

15

Clinical and genetic heterogeneity in retinitis pigmentosa

Josseline Kaplan, Dominique Bonneau, Jean Frézal, Arnold Munnich, Jean-Louis Dufier

Journal:

Year:

1990

Language:

english

File:

PDF, 733 KB

english, 1990

16

Expression of myosin VIIA during mouse embryogenesis

Iman Sahly, Aziz El-Amraoui, Marc Abitbol, Christine Petit, Jean-Louis Dufier

Journal:

Brain Structure and Function (Anatomy and Embryology 1891-2006)

Year:

1997

Language:

english

File:

PDF, 1002 KB

english, 1997

17

Δ1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline

Matthias R. Baumgartner, Daniel Rabier, Marie-Cécile Nassogne, Jean-Louis Dufier, Jean-Paul Padovani, Pierre Kamoun, David Valle, Jean-Marie Saudubray

Journal:

European Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 289 KB

english, 2005

18

Delayed internal ophthalmoplegia and amblyopia following chickenpox

Christophe Orssaud, Olivier Roche, Hussein El Dirani, Jean Louis Dufier

Journal:

European Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 74 KB

english, 2006

19

Exclusion of five subunits of cGMP phosphodiesterase in Leber’s congenital amaurosis

I. Perrault, Sophie Châtelin, Vanessa Nancy, Jean-Michel Rozet, Sylvie Gerber, Imad Ghazi, Eric Souied, Jean-Louis Dufier, Arnold Munnich, Jean de Gunzburg, Josseline Kaplan

Journal:

Year:

1998

Language:

english

File:

PDF, 84 KB

english, 1998

20

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

François Audren, Olivia Abitbol, Pascal Dureau, Salim Hakiki, Christophe Orssaud, Marie Bourgeois, Alain Pierre-Kahn, Christine Bodemer, Jean-Louis Dufier

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2006

Language:

english

File:

PDF, 513 KB

english, 2006

21

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p

Antignac, Corinne, Arduy, Christine H., Beckmann, Jacques S., Benessy, France, Gros, Françoise, Medhioub, Monia, Hildebrandt, Friedhelm, Dufier, Jean-Louis, Kleinknecht, Claire, Broyer, Michel

Journal:

Nature Genetics

Year:

1993

File:

PDF, 366 KB

1993

22

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1

Kaplan, Josseline, Gerber, Sylvie, Larget-Piet, Dominique, Rozet, Jean-Michel, Dollfus, Hélène, Dufier, Jean-Louis, Odent, Sylvie, Postel-Vinay, Anne, Janin, Nicolas, Briard, Marie-Louise

Journal:

Nature Genetics

Year:

1993

File:

PDF, 477 KB

1993

23

From CRX to CRD

Abitbol, Marc, Dufier, Jean-Louis

Journal:

Nature Medicine

Year:

1998

File:

PDF, 252 KB

1998

24

Spectrum of retGC1 mutations in Leber's congenital amaurosis

Perrault, Isabelle, Rozet, Jean-Michel, Gerber, Sylvie, Ghazi, Imad, Ducroq, Dominique, Souied, Eric, Leowski, Corinne, Bonnemaison, Michèle, Dufier, Jean-Louis, Munnich, Arnold

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 151 KB

english, 2000

25

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis

Gerber, Sylvie, Perrault, Isabelle, Hanein, Sylvain, Barbet, Fabienne, Ducroq, Dominique, Ghazi, Imad, Martin-Coignard, Dominique, Leowski, Corinne, Homfray, Tessa, Dufier, Jean-Louis

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 533 KB

english, 2001

26

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q

Barbet, Fabienne, Gerber, Sylvie, Hakiki, Sélim, Perrault, Isabelle, Hanein, Sylvain, Ducroq, Dominique, Tanguy, Gaëlle, Dufier, Jean-Louis, Munnich, Arnold, Rozet, Jean-Michel

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 197 KB

english, 2003

27

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

Hanein, Sylvain, Perrault, Isabelle, Gerber, Sylvie, Delphin, Nathalie, Benezra, David, Shalev, Stavit, Carmi, Rivka, Feingold, Josué, Dufier, Jean-Louis, Munnich, Arnold

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 680 KB

english, 2007

28

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

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-Mic

Journal:

Year:

2007

Language:

english

File:

PDF, 218 KB

english, 2007

29

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

Isabelle Ingster-Moati, Laurence Vaivre-Douret, Emmanuel Bui Quoc, Eliane Albuisson, Jean-Louis Dufier, Bernard Golse

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 228 KB

english, 2009

30

Familial congenital oculomotor apraxia: Clinical and electro-oculographic features

Christophe Orssaud, Isabelle Ingster-Moati, Olivier Roche, Emmanuel Bui Quoc, Jean Louis Dufier

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 196 KB

english, 2009

31

Autosomal inheritance of “senile” retinitis pigmentosa. A report of a family with consanguinity

Dominique Bonneau, Josseline Kaplan, Georges Girard, Jean-Louis Dufier

Journal:

Clinical Genetics

Year:

1992

Language:

english

File:

PDF, 169 KB

english, 1992

32

Nonpenetrating External Trabeculectomy for Congenital Glaucoma: A Retrospective Study

Olivier Roche, Francis Beby, Afshin Parsa, Christophe Orssaud, Jean-Louis Dufier, Cameron F. Parsa

Journal:

Year:

2007

Language:

english

File:

PDF, 196 KB

english, 2007

33

Spatial and Temporal Expression of the Cystathionine β-Synthase Gene During Early Human Development

Isabelle Quéré, Véronique Paul, Christelle Rouillac, Charles Janbon, Jacqueline London, Jacques Demaille, Pierre Kamoun, Jean-Louis Dufier, Marc Abitbol, Jean-François Chassé

Journal:

Biochemical and Biophysical Research Communications

Year:

1999

Language:

english

File:

PDF, 971 KB

english, 1999

34

Genetic Heterogeneity of Usher Syndrome Type 1 in French Families

Dominique Larget-Piet, Sylvie Gerber, Dominique Bonneau, Jean-Michel Rozet, Sophie Marc, Ihmad Ghazi, Jean-Louis Dufier, Albert David, Pierre Bitoun, Jean Weissenbach, Arnold Munnich, Josseline Kaplan

Journal:

Year:

1994

File:

PDF, 349 KB

1994

35

Analysis of Three Deletion Breakpoints in Xp21.1 and the Further Localization of RP3

John Brown, Katherine L. Dry, Alexander J. Edgar, Fiona E. Pryde, Lee J. Hardwick, Micheala A. Aldred, Douglas H. Lester, Shelagh Boyle, Josseline Kaplan, Jean-Louis Dufier, Meng-Fatt Ho, Anthony M. M

Journal:

Year:

1996

Language:

english

File:

PDF, 352 KB

english, 1996

36

The ABCR Gene: A Major Disease Gene in Macular and Peripheral Retinal Degenerations with Onset from Early Childhood to the Elderly

Jean-Michel Rozet, Sylvie Gerber, Eric Souied, Dominique Ducroq, Isabelle Perrault, Imad Ghazi, Gisèle Soubrane, Gabriel Coscas, Jean-Louis Dufier, Arnold Munnich, Josseline Kaplan

Journal:

Molecular Genetics and Metabolism

Year:

1999

Language:

english

File:

PDF, 48 KB

english, 1999

37

Leber Congenital Amaurosis

Isabelle Perrault, Jean-Michel Rozet, Sylvie Gerber, Imad Ghazi, Corinne Leowski, Dominique Ducroq, Eric Souied, Jean-Louis Dufier, Arnold Munnich, Josseline Kaplan

Journal:

Molecular Genetics and Metabolism

Year:

1999

Language:

english

File:

PDF, 146 KB

english, 1999

38

Superficial Punctate Keratitis and Conjunctival Erosions Associated With Congenital Tufting Enteropathy

Olivier Roche, Marc Putterman, Julie Salomon, Florence Lacaille, Nicole Brousse, Olivier Goulet, Jean Louis Dufier

Journal:

American Journal of Ophthalmology

Year:

2010

Language:

english

File:

PDF, 1.50 MB

english, 2010

39

Carotid Artery Dissection Revealed by an Oculosympathetic Spasm

Christophe Orssaud, Olivier Roche, Gilles Renard, Jean Louis Dufier

Journal:

The Journal of Emergency Medicine

Year:

2010

Language:

english

File:

PDF, 448 KB

english, 2010

40

Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study

Eric H Souied, Dominique Ducroq, Sylvie Gerber, Imad Ghazi, Jean-Michel Rozet, Isabelle Perrault, Arnold Munnich, Jean Louis Dufier, Gabriel Coscas, Gisèle Soubrane, Josseline Kaplan

Journal:

American Journal of Ophthalmology

Year:

1999

Language:

english

File:

PDF, 673 KB

english, 1999

41

Gillespie syndrome phenotype withat(x;11)(p22.32;p12) de novo translocation

Hélène Dollfus, Olivier Joanny-Flinois, Martine Doco-Fenzy, Lysiane Veyre, Lina Joanny-Flinois, Maroun Khoury, Philippe JonveauxB, Marc Abitbol, Jean-Louis Dufier

Journal:

American Journal of Ophthalmology

Year:

1998

Language:

english

File:

PDF, 357 KB

english, 1998

42

Renal coloboma syndrome

Pascal Dureau, Tania Attie-Bitach, Rémi Salomon, Olivier Bettembourg, Jeanne Amiel, Yves Uteza, Jean-Louis Dufier

Journal:

Year:

2001

Language:

english

File:

PDF, 244 KB

english, 2001

43

Ophthalmologic findings in suspected child abuse victims with subdural hematomas

Vincent Pierre-Kahn, Olivier Roche, Pascal Dureau, Yves Uteza, Dominique Renier, Alain Pierre-Kahn, Jean-Louis Dufier

Journal:

Year:

2003

Language:

english

File:

PDF, 165 KB

english, 2003

44

In vivo adenovirus-mediated gene transfer to newborn rat retinal pigment epithelial cells

Florence Ribeaudeau, Marc Abitbol, Françoise Finiels, Paul Roustan, Frédéric Revah, Jean-Louis Dufier, Jacques Mallet

Journal:

Comptes Rendus de l'Académie des Sciences - Series III - Sciences de la Vie

Year:

1997

File:

PDF, 1.25 MB

1997

45

Identification of novel genes and altered signaling pathways in the retinal pigment epithelium during the Royal College of Surgeons rat retinal degeneration

Eric M Dufour, Emeline Nandrot, Dominique Marchant, Loïc Van Den Berghe, Stéphanie Gadin, Moussa Issilame, Jean-Louis Dufier, Cécile Marsac, Deborah Carper, Maurice Menasche, Marc Abitbol

Journal:

Neurobiology of Disease

Year:

2003

Language:

english

File:

PDF, 283 KB

english, 2003

46

Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis

Isabelle Perrault, Jean-Michel Rozet, Imad Ghazi, Corinne Leowski, Michèle Bonnemaison, Sylvie Gerber, Dominique Ducroq, Annick Cabot, Eric Souied, Jean-Louis Dufier, Arnold Munnich, Josseline Kaplan

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 308 KB

english, 1999

47

The ABCA4 Gene in Autosomal Recessive Cone-Rod Dystrophies

Dominique Ducroq, Jean-Michel Rozet, Sylvie Gerber, Isabelle Perrault, Fabienne Barbet, Sylvain Hanein, Selim Hakiki, Jean-Louis Dufier, Arnold Munnich, Christian Hamel, Josseline Kaplan

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 57 KB

english, 2002

48

Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis

Isabelle Perrault, Sylvain Hanein, Sylvie Gerber, Fabienne Barbet, Dominique Ducroq, Helene Dollfus, Christian Hamel, Jean-Louis Dufier, Arnold Munnich, Josseline Kaplan, Jean-Michel Rozet

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 1.03 MB

english, 2004

49

USH1A: Chronicle of a Slow Death

Sylvie Gerber, Dominique Bonneau, Brigitte Gilbert, Arnold Munnich, Jean-Louis Dufier, Jean-Michel Rozet, Josseline Kaplan

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 59 KB

english, 2006

50

Asymptomatic atrophy of the temporal median raphe of the retina associated with cerebral vasculopathy in homozygous sickle cell disease

Matthieu P. Robert, Isabelle Ingster-Moati, Olivier Roche, Nathalie Boddaert, Mariane de Montalembert, Valentine Brousse, Manoelle Kossorotoff, Jean-Louis Dufier, Céline Faure

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2012

Language:

english

File:

PDF, 639 KB

english, 2012