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Jean-Michel Rozet

Research Profile

Concepts & Ideas

Physiology

Procedures

Disorders

Chemicals & Drugs

Genes & Molecular Sequences

Phenomena

Polymorphism, Single-Stranded Conformational

Anatomy

Chromosomes, Human, Pair 1

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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.
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.

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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.
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: 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.
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: Jean-Michel Rozet
[Identification of the molecular bases of retinal dystrophies: two divergent situations and their implications].
Bulletin de l'Académie nationale de médecine 2009;193(1):163-77; discussion 177-8.
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: 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.
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; 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: 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: 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.
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: Sylvie Gerber; Jean-Michel Rozet; S I Takezawa; L C dos Santos; L Lopes; O Gribouval; C Penet; Isabelle Perrault; Dominique Ducroq; Eric H Souied; Marc Jeanpierre; S Romana; J Frézal; F Ferraz; R Yu-Umesono; A Munnich; J Kaplan
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.
Human genetics 2000;107(3):276-84.
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: Eric H Souied; Dominique Ducroq; Jean-Michel Rozet; Sylvie Gerber; Isabelle Perrault; A Munnich; Gabriel Coscas; Gisele SOUBRANE; J Kaplan
ABCR gene analysis in familial exudative age-related macular degeneration.
Investigative ophthalmology & visual science 2000;41(1):244-7.
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; Jean-Michel Rozet; Sylvie Gerber; Isabelle Perrault; M Sterkers; Nathanael Benhamou; Arnold Munnich; Gabriel Coscas; Gisele SOUBRANE; J Kaplan
A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus.
Investigative ophthalmology & visual science 1999;40(11):2740-4.
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: 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: Eric H Souied; Jean-Michel Rozet; S Gerber; J L Dufier; Gisele SOUBRANE; G Coscas; A Munnich; J Kaplan
Two novel missense mutations in the peripherin/RDS gene in two unrelated French patients with autosomal dominant retinitis pigmentosa.
European journal of ophthalmology 1998;8(2):98-101.
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.
1998: Patrick Calvas; B Ségues; Jean-Michel Rozet; D Rabier; J P Bonnefond; Arnold Munnich
Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia.
Human mutation 1998;Suppl 1():S81-4.
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.
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: B Gilbert-Dussardier; B Segues; Jean-Michel Rozet; Daniel Rabier; Patrick Calvas; L de Lumley; J P Bonnefond; Arnold Munnich
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.
Human mutation 1996;8(1):74-6.
1996: F Rousseau; Jacky Bonaventure; Laurence Legeai-Mallet; Anna Pelet; Jean-Michel Rozet; Pierre Maroteaux; Martine Le Merrer; Arnold Munnich
Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.
Hormone research 1996;45(1-2):108-10.
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: 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: B Segues; Jean-Michel Rozet; B Gilbert; P Saugier-Veber; Daniel Rabier; J M Saudubray; M Carré; F P Rouleau; A Menget; J M Bonardi
Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia.
Prenatal diagnosis 1995;15(8):757-61.
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: 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: F Rousseau; Jacky Bonaventure; Laurence Legeai-Mallet; Anna Pelet; Jean-Michel Rozet; Pierre Maroteaux; Martine Le Merrer; Arnold Munnich
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
Nature 1994;371(6494):252-4.
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: L Oliveira; P Miniou; E Viegas-Pequignot; Jean-Michel Rozet; Hélène Dollfus; Steven J Pittler
Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1.
Genomics 1994;22(2):478-81.
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.
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: P Saugier-Veber; Arnold Munnich; D Bonneau; Jean-Michel Rozet; Martine Le Merrer; R Gil; O Boespflug-Tanguy
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
Nature genetics 1994;6(3):257-62.
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: D Feldmann; Jean-Michel Rozet; Anna Pelet; D Hentzen; P Briand; P Hubert; C Largilliere; Daniel Rabier; J P Farriaux; Arnold Munnich
Site specific screening for point mutations in ornithine transcarbamylase deficiency.
Journal of medical genetics 1992;29(7):471-5.