FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Josseline Kaplan

Research Profile

Concepts & Ideas

Physiology

Procedures

Disorders

Chemicals & Drugs

Genes & Molecular Sequences

Anatomy

Retinal Cone Photoreceptor Cells

Co-author Network

Publications

TOP 3
Sylvain Hanein; Josseline Kaplan; Jean-Marc Masse; Arnold Munnich; Isabelle Perrault; Yves de Keyzer; Thierry Delaveau; Nathalie Delphin; Frédéric Devaux; Lucas Fares-Taie; Mathilde Garcia; Sylvie Gerber; Alain Schmitt; Valérie Serre; Jean-Michel Rozet
TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.
Lucas Fares-Taie; Xavier GERARD; Sylvie Gerber; Sylvain Hanein; Josseline Kaplan; Stanislas LYONNET; Arnold Munnich; Patrick Nitschke; Ghislaine Plessis; Nicola Ragge; Clarisse Baumann; Christine Bole; Lionel Brétillon; Patrick Calvas; Nicolas Chassaing; Jill Clayton-Smith; Bénédicte Demeer; Margaux Serey; Valérie Serre; Eduardo Silva; Jean-Michel Rozet
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
Josseline Kaplan; Isabelle Perrault; Hélène Dollfus; Sylvain Hanein; Jean-Michel Rozet
[Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy].

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Josseline Kaplan (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: Sylvain Hanein; Josseline Kaplan; Jean-Marc Masse; Arnold Munnich; Isabelle Perrault; Yves de Keyzer; Thierry Delaveau; Nathalie Delphin; Frédéric Devaux; Lucas Fares-Taie; Mathilde Garcia; Sylvie Gerber; Alain Schmitt; Valérie Serre; Jean-Michel Rozet
TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.
Biochimica et biophysica acta 2013;1830(6):3719-33.
2013: Lucas Fares-Taie; Xavier GERARD; Sylvie Gerber; Sylvain Hanein; Josseline Kaplan; Stanislas LYONNET; Arnold Munnich; Patrick Nitschke; Ghislaine Plessis; Nicola Ragge; Clarisse Baumann; Christine Bole; Lionel Brétillon; Patrick Calvas; Nicolas Chassaing; Jill Clayton-Smith; Bénédicte Demeer; Margaux Serey; Valérie Serre; Eduardo Silva; Jean-Michel Rozet
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
American journal of human genetics 2013;92(2):265-70.
2013: Josseline Kaplan; Isabelle Perrault; Hélène Dollfus; Sylvain Hanein; Jean-Michel Rozet
[Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy].
Médecine sciences : M/S 2013;29(1):26-7.
2012: Stephan Klebe; Elodie Lejeune; Cecilia Mancini; Jean-Michel Mayer; Elisabeth Ollagnon; Jean-Michel Rozet; Jérôme de Seze; Guilhem Sole; Giovanni Stevanin; Mathieu Anheim; Alexis Brice; Alfredo Brusco; Philippe Busson; Cécile Cazeneuve; Georges Challe; Perrine Charles; Patrick F Chinnery; Michel Clanet; Julien Cottineau; Christel Depienne; Alain Destée; Hélène Dollfus; Estelle Fedirko; Xavier Ferrer; Bertrand Fontaine; Sylvie Gerber; Josseline Kaplan; Alexandra Durr
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Brain : a journal of neurology 2012;135(Pt 10):2980-93.
2012: Isabelle Perrault; Olivier Roche; Valérie Serre; Eduardo Silva; Olivia Xerri; Xavier Zanlonghi; Patrick Calvas; Sabine Defoort-Delhemmes; Nathalie Delphin; Hélène Dollfus; Alice Duncombe; Catherine Edelson; Lucas Fares-Taie; Sylvie Gerber; Alice Goldenberg; Christian Hamel; Sylvain Hanein; Josseline Kaplan; Guylène Le Meur; Arnold Munnich; Michael Nicouleau; Patrick Nitschke; Jean-Michel Rozet
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
Nature genetics 2012;44(9):975-7.
2012: Isabelle Perrault; Christine Pietrement; Olivier Roche; Mustafa A M Salih; Sophie Saunier; Nora Shannon; Eduardo Silva; Mohammed Zahrate; Corinne Antignac; Heleen H Arts; Véronique Baudouin; Clarisse Baumann; Philip Beales; Karine Bigot; Albane A Bizet; Christine Bole-Feysot; Felicity Collins; Valérie Cormier-Daire; Nathalie Delphin; Emilie Filhol; Sylvie Gerber; Jamal Goumid; Sylvain Hanein; Josseline Kaplan; Martine Le Merrer; Arnold Munnich; Patrick Nitschke; Christophe Orssaud; Machteld M Oud; Jean-Michel Rozet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
American journal of human genetics 2012;90(5):864-70.
2012: Nathalie Delphin; Sylvain Hanein; Josseline Kaplan; Jean-Paul Moisan; Arnold Munnich; Patrick Nitschke; Solenn Pruvost; Olivier Roche; Dominique Bonneau; Jean-Paul Bonnefont; Christine Boyle; Lucas Fares Taie; Xavier Zanlonghi; Jean-Michel Rozet
Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?
European journal of human genetics : EJHG 2012;20(3):352-6.
2012: Xavier GERARD; Sylvain Hanein; Josseline Kaplan; Antoine Kichler; Arnold Munnich; Isabelle Perrault; Marlène Rio; Karine Bigot; Sabine Defoort-Delhemmes; Daniel Scherman; Eduardo Silva; Jean-Michel Rozet
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.
Molecular therapy. Nucleic acids 2012;1():e29.
2011: Jennyfer Zerbib; Salomon Y Cohen; Josseline Kaplan; Jean-François Korobelnik; Nicolas Leveziel; Arnold Munnich; Nathalie Puche; Florence Richard; Jean-Michel Rozet; José Sahel; Eric H Souied
No association between the T280M polymorphism of the CX3CR1 gene and exudative AMD.
Experimental eye research 2011;93(4):382-6.
2011: Giuseppe Querques; Lea Querques; Jean-Michel Rozet; Rossana Santacroce; Nathalie Delphin; Josseline Kaplan; Maurizio Margaglione; Jennyfer Zerbib; Eric H Souied
The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene.
Investigative ophthalmology & visual science 2011;52(7):4678-84.
2010: J F Papon; Isabelle Perrault; André Coste; B Louis; Xavier GERARD; Sylvain Hanein; L Fares-Taie; Sylvie Gerber; Sabine Defoort-Dhellemmes; A M Vojtek; Josseline Kaplan; Jean-Michel Rozet; Estelle Escudier
Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations.
Journal of medical genetics 2010;47(12):829-34.
2010: Jean Muller; Corinne Stoetzel; M C Vincent; Carmen C Leitch; Virginie Laurier; Jean-Marc Danse; S Hellé; V Marion; V Bennouna-Greene; S Vicaire; A Megarbane; Josseline Kaplan; V Drouin-Garraud; M Hamdani; Sabine Sigaudy; C Francannet; J Roume; Pierre Bitoun; A Goldenberg; N Philip; S Odent; J Green; Mireille Cossée; Erica E Davis; Nicholas Katsanis; Dominique Bonneau; Alain Verloes; Olivier Poch; Jean-Louis Mandel; Hélène Dollfus
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
Human genetics 2010;127(5):583-93.
2010: Isabelle Perrault; Sylvain Hanein; Xavier GERARD; Nathalie Delphin; Lucas Fares-Taie; Sylvie Gerber; Valérie Pelletier; Emilie Mercé; Hélène Dollfus; Bernard Puech; Sabine Defoort-Dhellemmes; Michael D Petersen; Dimitrios Zafeiriou; Arnold Munnich; Josseline Kaplan; Olivier Roche; Jean-Michel Rozet
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Human mutation 2010;31(3):E1241-50.
2010: nisrine aboussair; A Berahou; I Perrault; S Chafai Elalaoui; A Megzari; Jean-Michel Rozet; Josseline Kaplan; abdelaziz sefiani
[First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation].
Journal français d'ophtalmologie 2010;33(2):117.e1-5.
2010: Jennyfer Zerbib; Florence Richard; Nathalie Puche; Nicolas Leveziel; Salomon Y Cohen; Jean-François Korobelnik; José Sahel; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet; Eric H Souied
R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population.
Molecular vision 2010;16():1324-30.
2009: Marc Ferré; Dominique Bonneau; Dan Milea; Arnaud Chevrollier; Christophe Verny; Hélène Dollfus; Carmen Ayuso; Sabine Defoort; Catherine Vignal; Xavier Zanlonghi; Jean-Francois Charlin; Josseline Kaplan; Sylvie Odent; Christian P Hamel; Vincent Procaccio; Pascal Reynier; Patrizia Amati-Bonneau
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
Human mutation 2009;30(7):E692-705.
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.
2009: Vassili Valayannopoulos; Laurence Hubert; J F Benoist; S Romano; J B Arnoux; Dominique Chrétien; Josseline Kaplan; F Fakhouri; Daniel Rabier; Agnès Rötig; A S Lebre; Arnold Munnich; Yves de Keyzer; Pascale de Lonlay
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12).
Journal of inherited metabolic disease 2009;32(2):159-62.
2009: Giuseppe Querques; Jennyfer Zerbib; Rossana Santacroce; Maurizio Margaglione; Nathalie Delphin; Jean-Michel Rozet; Josseline Kaplan; Domenico Martinelli; Nicola Delle Noci; Gisele SOUBRANE; Eric H Souied
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.
Molecular vision 2009;15():2960-72.
2009: Jennyfer Zerbib; Johanna M Seddon; Florence Richard; Robyn Reynolds; Nicolas Leveziel; Pascale Benlian; Patrick Borel; Josué Feingold; Arnold Munnich; Gisele SOUBRANE; Josseline Kaplan; Jean-Michel Rozet; Eric H Souied
rs5888 variant of SCARB1 gene is a possible susceptibility factor for age-related macular degeneration.
PloS one 2009;4(10):e7341.
2008: Josseline Kaplan
Leber congenital amaurosis: from darkness to spotlight.
Ophthalmic genetics 2008;29(3):92-8.
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: 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: 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: Dominique Ducroq; Stavit A Shalev; Aviv Habib; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet
Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy.
European journal of human genetics : EJHG 2006;14(12):1269-73.
2006: Christine E Parc; Elodie Azan; Sébastien Bonnel; José-Alain Sahel; Josseline Kaplan; Charles Thirkill
Cone dysfunction as a paraneoplastic syndrome associated with retinal antigens approximating 40 kiloDalton.
Ophthalmic genetics 2006;27(2):57-61.
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; Gaëlle Tanguy; Jean-Michel Rozet; Josseline Kaplan
Leber congenital amaurosis: survey of the genetic heterogeneity, refinement of the clinical definition and phenotype-genotype correlations as a strategy for molecular diagnosis. Clinical and molecular survey in LCA.
Advances in experimental medicine and biology 2006;572():15-20.
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: 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: Jana Zernant; Maigi Külm; Sharola Dharmaraj; Anneke I den Hollander; Isabelle Perrault; Markus N Preising; Birgit Lorenz; Josseline Kaplan; Frans P M Cremers; Irene H Maumenee; Robert K Koenekoop; Rando Allikmets
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
Investigative ophthalmology & visual science 2005;46(9):3052-9.
2005: Haifa Hichri; Corinne Stoetzel; Virginie Laurier; Solenne Caron; Sabine Sigaudy; Pierre Sarda; Christian Hamel; Dominique Martin-Coignard; Morin Gilles; Bruno Leheup; Mureille Holder; Josseline Kaplan; Pierre Bitoun; Didier Lacombe; Alain Verloes; Dominique Bonneau; Fabienne Perrin-Schmitt; Christian Brandt; Anne-Françoise Besancon; Jean-Louis Mandel; Mireille Cossée; Hélène Dollfus
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
European journal of human genetics : EJHG 2005;13(5):607-16.
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: 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.
2004: Isabelle Perrault; Sylvain Hanein; Josseline Kaplan
[Leber congenital amaurosis: retinol dehydrogenases are the culprit].
Médecine sciences : M/S 2004;20(12):1066-8.
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: Sharola Dharmaraj; Bart P Leroy; Melanie M Sohocki; Robert K Koenekoop; Isabelle Perrault; Khalid Anwar; Shagufta Khaliq; R Summathi Devi; David G Birch; Elaine De Pool; Natalio Izquierdo; Lionel Van Maldergem; Muhammad Ismail; Annette M Payne; Graham Holder; Shomi S Bhattacharya; Alan C Bird; Josseline Kaplan; Irene H Maumenee
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
Archives of ophthalmology 2004;122(7):1029-37.
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: Evelyne Colomb; Josseline Kaplan; Henri-Jean Garchon
Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France.
Human mutation 2003;22(6):496.
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: 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: 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.
2003: fernanda porto; Isabelle Perrault; David Hicks; Jean-Michel Rozet; Noëlle Hanoteau; Sylvain Hanein; Josseline Kaplan; José-Alain Sahel
Prenatal human ocular degeneration occurs in Leber's Congenital Amaurosis (LCA1 and 2).
Advances in experimental medicine and biology 2003;533():59-68.
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: 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: Sylvain Hanein; Isabelle Perrault; Päivi Olsen; Tuija Lopponen; Marja Hietala; Sylvie Gerber; Marc Jeanpierre; Fabienne Barbet; Dominique Ducroq; Sélim Hakiki; Arnold Munnich; Jean-Michel Rozet; Josseline Kaplan
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.
Human mutation 2002;20(4):322-3.
2002: Annick Toutain; Benoît Dessay; Nathalie Ronce; Maria-Immacolata Ferrante; Julie Tranchemontagne; Ruth Newbury-Ecob; Carina Wallgren-Pettersson; John Burn; Josseline Kaplan; Annick Rossi; Silvia Russo; Ian Walpole; James Hartsfield; Nina Oyen; Andrea Nemeth; Pierre Bitoun; Dorothy Trump; Claude Moraine; Brunella Franco
Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.
European journal of human genetics : EJHG 2002;10(9):516-20.
2002: fernanda porto; Isabelle Perrault; David Hicks; Jean-Michel Rozet; Noëlle Hanoteau; Sylvain Hanein; Josseline Kaplan; José-Alain Sahel
Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2).
The journal of gene medicine 2002;4(4):390-6.
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: Alessandra Maugeri; Kris Flothmann; Nadine Hemmrich; Sofie Ingvast; Paula Jorge; Eva Paloma; Reshma Patel; Jean-Michel Rozet; Jaana Tammur; Francesco Testa; Susana Balcells; Alan C Bird; Han G Brunner; Carel B Hoyng; Andres Metspalu; Francesca Simonelli; Rando Allikmets; Shomi S Bhattacharya; Michele D'Urso; Roser Gonzàlez-Duarte; Josseline Kaplan; Gerard te Meerman; Rosário Santos; Marianne Schwartz; Guy Van Camp; Claes Wadelius; Bernhard H F Weber; Frans P M Cremers
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.
European journal of human genetics : EJHG 2002;10(3):197-203.
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: Jean-Michel Rozet; Isabelle Perrault; Sylvie Gerber; Sylvain Hanein; Fabienne Barbet; Dominique Ducroq; Eric H Souied; Arnold Munnich; Josseline Kaplan
Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA).
Investigative ophthalmology & visual science 2001;42(6):1190-2.
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: Melanie M Sohocki; Isabelle Perrault; Bart P Leroy; Annette M Payne; Sharola Dharmaraj; Shomi S Bhattacharya; Josseline Kaplan; Irene H Maumenee; Robert K Koenekoop; Françoise Meire; David G Birch; John R Heckenlively; Stephen P Daiger
Prevalence of AIPL1 mutations in inherited retinal degenerative disease.
Molecular genetics and metabolism 2000;70(2):142-50.
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: 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: A Cabot; Jean-Michel Rozet; Sylvie Gerber; Isabelle Perrault; Dominique Ducroq; A Smahi; Eric H Souied; Arnold Munnich; Josseline Kaplan
A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.
American journal of human genetics 1999;64(4):1141-6.
1998: Eric H Souied; Pascale Benlian; Jean-Michel Rozet; Sylvie Gerber; JP Lagarde; Gabriel Coscas; Gisele SOUBRANE; J L Duffier; Arnold Munnich; Josseline Kaplan
Exclusion of the apoE gene in autosomal dominant retinitis pigmentosa.
Vision research 1998;38(24):3829-31.
1998: Isabelle Perrault; Jean-Michel Rozet; Sylvie Gerber; RE Kelsell; Eric H Souied; A Cabot; David Hunt; Arnold Munnich; Josseline Kaplan
A retGC-1 mutation in autosomal dominant cone-rod dystrophy.
American journal of human genetics 1998;63(2):651-4.
1998: RE Kelsell; Kevin Gregory-Evans; Annette M Payne; Isabelle Perrault; Josseline Kaplan; RB Yang; David L Garbers; Alan C Bird; Anthony T Moore; David Hunt
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.
Human molecular genetics 1998;7(7):1179-84.
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: 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: Jean-Michel Rozet; Sylvie Gerber; Isabelle Perrault; Patrick Calvas; Eric H Souied; S Châtelin; D Molina-Gomez; Arnold Munnich; Josseline Kaplan
Structure and refinement of the physical mapping of the gamma- glutamylcysteine ligase regulatory subunit (GLCLR) gene to chromosome 1p22.1 within the critically deleted region of human malignant mesothelioma.
Cytogenetics and cell genetics 1998;82(1-2):91-4.
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: Annick Toutain; Nathalie Ronce; Benoît Dessay; L Robb; C Francannet; M Le Merrer; M L Briard; Josseline Kaplan; Claude Moraine
Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region.
Human genetics 1997;99(2):256-61.
1997: G Ershova; Josette Derré; S Chételin; Vanessa Nancy; R Berger; Josseline Kaplan; Arnold Munnich; Jean de Gunzburg
cDNA sequence, genomic organization and mapping of PDE6D, the human gene encoding the delta subunit of the cGMP phosphodiesterase of retinal rod cells to chromosome 2q36.
Cytogenetics and cell genetics 1997;79(1-2):139-41.
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: Jean-Michel Rozet; Sylvie Gerber; Isabelle Perrault; A Camuzat; Patrick Calvas; E Viegas-Pequignot; D Molina-Gomes; D Le Paslier; I Chumakov; Arnold Munnich; Josseline Kaplan
Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD).
Genomics 1996;36(3):554-6.
1996: A Camuzat; Jean-Michel Rozet; Hélène Dollfus; Sylvie Gerber; Isabelle Perrault; J Weissenbach; Arnold Munnich; Josseline Kaplan
Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13.
Human genetics 1996;97(6):798-801.
1996: Sylvie Gerber; D Larget-Piet; Jean-Michel Rozet; D Bonneau; M Mathieu; V Der Kaloustian; Arnold Munnich; Josseline Kaplan
Evidence for a fourth locus in Usher syndrome type I.
Journal of medical genetics 1996;33(1):77-9.
1996: Eric H Souied; Jean-Michel Rozet; Sylvie Gerber; Arnold Munnich; Josseline Kaplan
[Rapid demonstration of mutations previously identified in parents at risk of patients with autosomic dominant retinitis pigmentosa].
Journal français d'ophtalmologie 1996;19(4):265-70.
1995: D Bonneau; Eric H Souied; Sylvie Gerber; Jean-Michel Rozet; E D'Haens; H Journel; G Plessis; J Weissenbach; Arnold Munnich; Josseline Kaplan
No evidence of genetic heterogeneity in dominant optic atrophy.
Journal of medical genetics 1995;32(12):951-3.
1995: Sylvie Gerber; Jean-Michel Rozet; D Bonneau; Eric H Souied; J Weissenbach; J Frezal; Arnold Munnich; Josseline Kaplan
Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's disease.
Human genetics 1995;95(4):382-4.
1995: Dominique Weil; Stéphane Blanchard; Josseline Kaplan; P Guilford; F Gibson; J Walsh; Philomena Mburu; A Varela; Jacqueline Levilliers; M D Weston
Defective myosin VIIA gene responsible for Usher syndrome type 1B.
Nature 1995;374(6517):60-1.
1995: Eric H Souied; P Amalric; M L Chauvet; C Chevallier; P Le Hoang; Arnold Munnich; Josseline Kaplan
Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance.
Ophthalmic genetics 1995;16(1):11-5.
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.
1994: Jean-Michel Rozet; Sylvie Gerber; D Bonneau; Arnold Munnich; Josseline Kaplan
DsaI polymorphism at the human cone transducin alpha-subunit (GNAT2) detected by PCR.
Human molecular genetics 1994;3(6):1030.
1993: D Larget-Piet; Jean-Michel Rozet; Sylvie Gerber; Hélène Dollfus; Arnold Munnich; Josseline Kaplan
Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locus.
Human molecular genetics 1993;2(12):2201.
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: Hélène Dollfus; M G Mattei; Jean-Michel Rozet; O Delrieu; Arnold Munnich; Josseline Kaplan
Physical and genetic localization of the gamma subunit of the cyclic GMP phosphodiesterase on the long arm of chromosome 17 (17q25).
Genomics 1993;17(2):526-8.
1993: Hélène Dollfus; Jean-Michel Rozet; M A Musarella; Josseline Kaplan; Arnold Munnich
Dinucleotide repeat polymorphism at the human recoverin RCVI gene locus on chromosome 17p.
Human molecular genetics 1993;2(7):1081.
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.
1992: Josseline Kaplan; Anna Pelet; C Martin; O Delrieu; S Aymé; D Bonneau; Marie Louise Briard; A Hanauer; L Larget-Piet; P Lefrançois
Phenotype-genotype correlations in X linked retinitis pigmentosa.
Journal of medical genetics 1992;29(9):615-23.
1992: Judith Melki; S Abdelhak; Philippe Burlet; V Raclin; Josseline Kaplan; R Spiegel; S Gilgenkrantz; N Philip; M L Chauvet; Y Dumez
Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes.
Journal of medical genetics 1992;29(3):171-4.
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: S Szpiro-Tapia; Josseline Kaplan; Anna Pelet; M Guilloud-Bataille; S Heuertz; Annie Nivelon-Chevallier; M Mathieu; C Piussan; H Journel; P Dodinval
[An example of detection of heterozygotes and antenatal diagnosis in four families with anhidrotic ectodermal dysplasia].
Annales de pédiatrie 1990;37(1):13-9.
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.