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1

Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France

Evelyne Colomb, Josseline Kaplan, Henri-Jean Garchon

Journal:

Year:

2003

Language:

english

File:

PDF, 31 KB

english, 2003

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

Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease

Melanie M. Sohocki, Isabelle Perrault, Bart P. Leroy, Annette M. Payne, Sharola Dharmaraj, Shomi S. Bhattacharya, Josseline Kaplan, Irene H. Maumenee, Robert Koenekoop, Françoise M. Meire, David G. Bi

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 273 KB

english, 2000

4

A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern

Chartier, Suzanne, Alby, Caroline, Boutaud, Lucile, Thomas, Sophie, Elkhartoufi, Nadia, Martinovic, Jelena, Kaplan, Josseline, Benachi, Alexandra, Lacombe, Didier, Sonigo, Pascale, Drunat, Séverine, V

Journal:

Birth Defects Research

Year:

2018

Language:

english

File:

PDF, 657 KB

english, 2018

5

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

Barny, Iris, Perrault, Isabelle, Michel, Christel, Soussan, Mickael, Goudin, Nicolas, Rio, Marlène, Thomas, Sophie, Attié-Bitach, Tania, Hamel, Christian, Dollfus, Hélène, Kaplan, Josseline, Rozet, Je

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 1.35 MB

english, 2018

6

Response to Drs. Shastry and Trese: Phenotype-genotype correlations in X-linked retinitis pigmentosa

Kaplan, Josseline

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 81 KB

english, 1996

7

Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: Report of new cases and delineation of 4 probable types

Dr. Alain Verloes, Hubert Journel, Catherine Elmer, Jean-Paul Misson, Martine Le Merrer, Josseline Kaplan, Lionel Van Maldergem, H. Deconinck, Françoise Meire

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 641 KB

english, 1993

8

Expanding CEP290 mutational spectrum in ciliopathies

Lorena Travaglini, Francesco Brancati, Tania Attie-Bitach, Sophie Audollent, Enrico Bertini, Josseline Kaplan, Isabelle Perrault, Miriam Iannicelli, Brunella Mancuso, Luciana Rigoli, Jean-Michel Rozet

Journal:

American Journal of Medical Genetics Part A

Year:

2009

File:

PDF, 212 KB

2009

9

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

10

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

11

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

12

Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2)

Fernanda B. O. Porto, Isabelle Perrault, David Hicks, Jean-Michel Rozet, Noëlle Hanoteau, Sylvain Hanein, Josseline Kaplan, José Alain Sahel

Journal:

The Journal of Gene Medicine

Year:

2002

Language:

english

File:

PDF, 503 KB

english, 2002

13

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

14

A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23

Patrizia Amati, Jean-Claude Chomel, Annie Nivelon-Chevalier, Simone Gilgenkrantz, Alain Kitzis, Josseline Kaplan, Dominique Bonneau

Journal:

Year:

1995

Language:

english

File:

PDF, 298 KB

english, 1995

15

Exclusion of the cone-specific α-subunit of the transducin gene in Stargardt's disease

Sylvie Gerber, Jean-Michel Rozet, Dominique Bonneau, Eric Souied, Jean Weissenbach, Jean Frezal, Arnold Munnich, Josseline Kaplan

Journal:

Year:

1995

Language:

english

File:

PDF, 309 KB

english, 1995

16

Mutation spectrum and splicing variants in theOPA1gene

Cécile Delettre, Jean-Michel Griffoin, Josseline Kaplan, Hélène Dollfus, Birgit Lorenz, Laurence Faivre, Guy Lenaers, Pascale Belenguer, Christian P. Hamel

Journal:

Year:

2001

Language:

english

File:

PDF, 188 KB

english, 2001

17

Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31–p22.13 region

A. Toutain, Nathalie Ronce, Benoît Dessay, Laura Robb, Christine Francannet, Martine Le Merrer, Marie-Louise Briard, Josseline Kaplan, Claude Moraine

Journal:

Year:

1997

Language:

english

File:

PDF, 76 KB

english, 1997

18

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

19

Defective myosin VIIA gene responsible for Usher syndrome type IB

Well, Dominique, Blanchard, Stéphane, Kaplan, Josseline, Guilford, Parry, Gibson, Fernando, Walsh, James, Mburu, Philomena, Varela, Anabel, Levilliers, Jacqueline, Weston, Michael D.

Journal:

Year:

1995

File:

PDF, 238 KB

1995

20

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

21

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes

Toutain, Annick, Dessay, Benoît, Ronce, Nathalie, Ferrante, Maria-Immacolata, Tranchemontagne, Julie, Newbury-Ecob, Ruth, Wallgren-Pettersson, Carina, Burn, John, Kaplan, Josseline, Rossi, Annick

Journal:

European Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 92 KB

english, 2002

22

Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone–rod dystrophy

Ducroq, Dominique, Shalev, Stavit, Habib, Aviv, Munnich, Arnold, Kaplan, Josseline, Rozet, Jean-Michel

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 128 KB

english, 2006

23

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

24

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

25

Physical and Genetic Localization of the γ Subunit of the Cyclic GMP Phosphodiesterase on the Long Arm of Chromosome 17 (17q25)

Hélène Dollfus, Marie-Geneviève Mattei, Jean-Michel Rozet, Olivier Delrieu, Arnold Munnich, Josseline Kaplan

Journal:

Year:

1993

File:

PDF, 167 KB

1993

26

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

27

Structure and Physical Mapping of DR1, a TATA-Binding Protein-Associated Phosphoprotein Gene, to Chromosome 1p22.1 and Its Exclusion in Stargardt Disease (STGD)

Jean-Michel Rozet, Sylvie Gerber, Isabelle Perrault, Agnès Camuzat, Patrick Calvas, Evani Viegas-Pequignot, Denise Molina-Gomes, Denis Le Paslier, Ilya Chumakov, Arnold Munnich, Josseline Kaplan

Journal:

Year:

1996

Language:

english

File:

PDF, 155 KB

english, 1996

28

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

29

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

30

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

31

No association between the T280M polymorphism of the CX3CR1 gene and exudative AMD

Jennyfer Zerbib, Nathalie Puche, Florence Richard, Nicolas Leveziel, Salomon Y. Cohen, Jean-François Korobelnik, José Sahel, Arnold Munnich, Josseline Kaplan, Jean-Michel Rozet, Eric H. Souied

Journal:

Experimental Eye Research

Year:

2011

Language:

english

File:

PDF, 132 KB

english, 2011

32

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

33

The γ e4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration

Eric H. Souied, Pascale Benlian, Philippe Amouyel, Josue Feingold, Jean-Pierre Lagarde, Arnold Munnich, Josseline Kaplan, Gabriel Coscas, Gisèle Soubrane

Journal:

American Journal of Ophthalmology

Year:

1998

Language:

english

File:

PDF, 937 KB

english, 1998

34

Macular dystrophy, diabetes, and deafness associated with a large mitochondrial dma deletion

Eric H. Souied, Marie-Joelle Salès, Gisèle Soubrane, Gabriel Coscas, Basile Bigorie, Josseline Kaplan, Arnold Munnich, Agnès Rötig

Journal:

American Journal of Ophthalmology

Year:

1998

Language:

english

File:

PDF, 672 KB

english, 1998

35

Exclusion of the apoE gene in autosomal dominant retinitis pigmentosa

Eric H Souied, Pascale Benlian, Jean-Michel Rozet, Sylvie Gerber, Jean-Pierre Lagarde, Gabriel Coscas, Gisèle Soubrane, Jean-Louis Duffier, Arnold Munnich, Josseline Kaplan

Journal:

Vision Research

Year:

1998

Language:

english

File:

PDF, 49 KB

english, 1998

36

A retGC-1 Mutation in Autosomal Dominant Cone-Rod Dystrophy

Isabelle Perrault, Jean-Michel Rozet, Sylvie Gerber, Rosemary E. Kelsell, Eric Souied, Annick Cabot, David M. Hunt, Arnold Munnich, Josseline Kaplan

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 265 KB

english, 1998

37

A Gene for X-Linked Idiopathic Congenital Nystagmus (NYS1) Maps to Chromosome Xp11.4-p11.3

Annick Cabot, Jean-Michel Rozet, Sylvie Gerber, Isabelle Perrault, Dominique Ducroq, Asmae Smahi, Eric Souied, Arnold Munnich, Josseline Kaplan

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 641 KB

english, 1999

38

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

39

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

40

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

41

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

42

Les dystrophies rétiniennes humaines héréditaires

Kaplan, Josseline

Journal:

Annales de l'Institut Pasteur / Actualités

Year:

1995

Language:

french

File:

PDF, 905 KB

french, 1995

43

Syndrome de Usher de type IB : Anomalie d'une myosine non conventionnelle

Weil, Dominique, Levy, Gallia, Sahly, Iman, Lévi-Acobas, Fabienne, Blanchard, Stéphane, Crozet, Fabien, Kaplan, Josseline, Munnich, Arnold, Abitbol, Marc, Steel, Karen

Journal:

Annales de l'Institut Pasteur / Actualités

Year:

1995

File:

PDF, 448 KB

1995

44

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

Gerber, Sylvie, Perrault, Isabelle, Hanein, Sylvain, Shalev, Stavit, Zlotogora, Joel, Barbet, Fabienne, Ducroq, Dominique, Dufier, Jean-Louis, Munnich, Arnold, Rozet, Jean-Michel, Kaplan, Josseline

Journal:

Ophthalmic Genetics

Year:

2002

Language:

english

File:

PDF, 157 KB

english, 2002

45

Retinitis Punctata Albescens Associated With the Arg135Trp Mutation in the Rhodopsin Gene

SOUIED, ERIC, SOUBRANE, GISÈLE, BENLIAN, PASCALE, COSCAS, GABRIEL J., GERBER, SYLVIE, MUNNICH, ARNOLD, KAPLAN, JOSSELINE

Journal:

American Journal of Ophthalmology

Year:

1996

Language:

english

File:

PDF, 2.62 MB

english, 1996

46

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2 , and SLC45A2 genes and a complex rearrangement of the OCA2 gene

Morice-Picard, Fanny, Lasseaux, Eulalie, Cailley, Dorothée, Gros, Audrey, Toutain, Jérome, Plaisant, Claudio, Simon, Delphine, François, Stéphane, Gilbert-Dussardier, Brigitte, Kaplan, Josseline, Roor

Journal:

Pigment Cell & Melanoma Research

Year:

2014

Language:

english

File:

PDF, 7.28 MB

english, 2014

47

Leber Congenital Amaurosis: From Darkness to Spotlight

Kaplan, Josseline

Journal:

Ophthalmic Genetics

Year:

2008

Language:

english

File:

PDF, 3.10 MB

english, 2008

48

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

Gerard, Xavier, Perrault, Isabelle, Hanein, Sylvain, Silva, Eduardo, Bigot, Karine, Defoort-Delhemmes, Sabine, Rio, Marlèene, Munnich, Arnold, Scherman, Daniel, Kaplan, Josseline, Kichler, Antoine, Ro

Journal:

Molecular Therapy — Nucleic Acids

Year:

2012

Language:

english

File:

PDF, 1.47 MB

english, 2012

49

The Spectrum of Subclinical Best Vitelliform Macular Dystrophy in Subjects with Mutations in BEST1 Gene

Querques, Giuseppe, Zerbib, Jennyfer, Santacroce, Rossana, Margaglione, Maurizio, Delphin, Nathalie, Querques, Lea, Rozet, Jean-Michel, Kaplan, Josseline, Souied, Eric H.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2011

Language:

english

File:

PDF, 1.11 MB

english, 2011

50

Genotyping Microarray (Disease Chip) for Leber Congenital Amaurosis: Detection of Modifier Alleles

Zernant, Jana, Ku¨lm, Maigi, Dharmaraj, Sharola, den Hollander, Anneke I., Perrault, Isabelle, Preising, Markus N., Lorenz, Birgit, Kaplan, Josseline, Cremers, Frans P. M., Maumenee, Irene, Koenekoop,

Journal:

Investigative Ophthalmology & Visual Science

Year:

2005

Language:

english

File:

PDF, 149 KB

english, 2005

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