Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype
Perrault, Isabelle, Delphin, Nathalie, Hanein, Sylvain, Gerber, Sylvie, Dufier, Jean-Louis, Roche, Olivier, Defoort-Dhellemmes, Sabine, Dollfus, Hélène, Fazzi, Elisa, Munnich, Arnold, Kaplan, Josseline, Rozet, Jean-Michel
Published in Human mutation (01.04.2007)
Published in Human mutation (01.04.2007)
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TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy
Hanein, Sylvain, Perrault, Isabelle, Roche, Olivier, Gerber, Sylvie, Khadom, Noman, Rio, Marlene, Boddaert, Nathalie, Jean-Pierre, Marc, Brahimi, Nora, Serre, Valérie, Chretien, Dominique, Delphin, Nathalie, Fares-Taie, Lucas, Lachheb, Sahran, Rotig, Agnès, Meire, Françoise, Munnich, Arnold, Dufier, Jean-Louis, Kaplan, Josseline, Rozet, Jean-Michel
Published in American journal of human genetics (01.04.2009)
Published in American journal of human genetics (01.04.2009)
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Phylogenetic Analyses Indicate an Atypical Nurse-to-Patient Transmission of Human Immunodeficiency Virus Type 1
Goujon, C P, Schneider, V M, Grofti, J, Montigny, J, Jeantils, V, Astagneau, P, Rozenbaum, W, Lot, F, Frocrain-Herchkovitch, C, Delphin, N, Le Gal, F, Nicolas, J C, Milinkovitch, M C, Dény, P
Published in Journal of Virology (01.03.2000)
Published in Journal of Virology (01.03.2000)
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Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
PERRAULT, Isabelle, HANEIN, Sylvain, EDELSON, Catherine, GOLDENBERG, Alice, DUNCOMBE, Alice, LE MEUR, Gylène, HAMEL, Christian, SILVA, Eduardo, NITSCHKE, Patrick, CALVAS, Patrick, MUNNICH, Arnold, ROCHE, Olivier, ZANLONGHI, Xavier, DOLLFUS, Hélène, KAPLAN, Josseline, ROZET, Jean-Michel, SERRE, Valérie, NICOULEAU, Michael, DEFOORT-DELHEMMES, Sabine, DELPHIN, Nathalie, FARES-TAIE, Lucas, GERBER, Sylvie, XERRI, Olivia
Published in Nature genetics (01.09.2012)
Published in Nature genetics (01.09.2012)
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Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
Perrault, Isabelle, Saunier, Sophie, Hanein, Sylvain, Filhol, Emilie, Bizet, Albane A., Collins, Felicity, Salih, Mustafa A.M., Gerber, Sylvie, Delphin, Nathalie, Bigot, Karine, Orssaud, Christophe, Silva, Eduardo, Baudouin, Véronique, Oud, Machteld M., Shannon, Nora, Le Merrer, Martine, Roche, Olivier, Pietrement, Christine, Goumid, Jamal, Baumann, Clarisse, Bole-Feysot, Christine, Nitschke, Patrick, Zahrate, Mohammed, Beales, Philip, Arts, Heleen H., Munnich, Arnold, Kaplan, Josseline, Antignac, Corinne, Cormier-Daire, Valérie, Rozet, Jean-Michel
Published in American journal of human genetics (04.05.2012)
Published in American journal of human genetics (04.05.2012)
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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
Published in Investigative ophthalmology & visual science (28.06.2011)
Published in Investigative ophthalmology & visual science (28.06.2011)
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Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling
Pelletier, Valérie, Jambou, Marguerite, Delphin, Nathalie, Zinovieva, Elena, Stum, Morgane, Gigarel, Nadine, Dollfus, Hélène, Hamel, Christian, Toutain, Annick, Dufier, Jean-Louis, Roche, Olivier, Munnich, Arnold, Bonnefont, Jean-Paul, Kaplan, Josseline, Rozet, Jean-Michel
Published in Human mutation (01.01.2007)
Published in Human mutation (01.01.2007)
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TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane
Hanein, Sylvain, Garcia, Mathilde, Fares-Taie, Lucas, Serre, Valérie, De Keyzer, Yves, Delaveau, Thierry, Perrault, Isabelle, Delphin, Nathalie, Gerber, Sylvie, Schmitt, Alain, Masse, Jean-Marc, Munnich, Arnold, Kaplan, Josseline, Devaux, Frédéric, Rozet, Jean-Michel
Published in Biochimica et biophysica acta (01.06.2013)
Published in Biochimica et biophysica acta (01.06.2013)
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Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene
Querques, Giuseppe, Zerbib, Jennyfer, Santacroce, Rossana, Margaglione, Maurizio, Delphin, Nathalie, Rozet, Jean-Michel, Kaplan, Josseline, Martinelli, Domenico, Delle Noci, Nicola, Soubrane, Gisèle, Souied, Eric H
Published in Molecular vision (31.12.2009)
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Published in Molecular vision (31.12.2009)
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Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype
Perrault, Isabelle, Hanein, Sylvain, Gerard, Xavier, Delphin, Nathalie, Fares-Taie, Lucas, Gerber, Sylvie, Pelletier, Valérie, Mercé, Emilie, Dollfus, Hélène, Puech, Bernard, Defoort-Dhellemmes, Sabine, Petersen, Michael D, Zafeiriou, Dimitrios, Munnich, Arnold, Kaplan, Josseline, Roche, Olivier, Rozet, Jean-Michel
Published in Human mutation (01.03.2010)
Published in Human mutation (01.03.2010)
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Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?
DELPHIN, Nathalie, HANEIN, Sylvain, MUNNICH, Arnold, ROCHE, Olivier, KAPLAN, Josseline, ROZET, Jean-Michel, FARES TAIE, Lucas, ZANLONGHI, Xavier, BONNEAU, Dominique, MOISAN, Jean-Paul, BOYLE, Christine, NITSCHKE, Patrick, PRUVOST, Solenn, BONNEFONT, Jean-Paul
Published in European journal of human genetics : EJHG (01.03.2012)
Published in European journal of human genetics : EJHG (01.03.2012)
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Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II
Gerber, Sylvie, Hanein, Sylvain, Perrault, Isabelle, Delphin, Nathalie, Aboussair, Nisrine, Leowski, Corinne, Dufier, Jean-Louis, Roche, Olivier, Munnich, Arnold, Kaplan, Josseline, Rozet, Jean-Michel
Published in Human mutation (01.12.2007)
Published in Human mutation (01.12.2007)
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Population history and infrequent mutations : how old is a rare mutation? GUCY2D as a worked example
HANEIN, Sylvain, PERRAULT, Isabelle, KAPLAN, Josseline, ROZET, Jean-Michel, JEANPIERRE, Marc, GERBER, Sylvie, DELPHIN, Nathalie, BENEZRA, David, SHALEV, Stavit, CARMI, Rivka, FEINGOLD, Josué, DUFIER, Jean-Louis, MUNNICH, Arnold
Published in European journal of human genetics : EJHG (01.01.2008)
Published in European journal of human genetics : EJHG (01.01.2008)
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A new insertion in the HIV-1 reverse transcriptase gene inducing major resistance to non-nucleoside reverse transcriptase inhibitors
AMIEL, Corinne, DESIRE, Nathalie, SCHNEIDER, Veronique, DELPHIN, Nathalie, RACE, Ester, CLAVEL, Francoise, PIOLOT, Tristtan, DAM, Elisabeth, ROZENBAUM, Willy, NICOLAS, Jean-Claude
Published in AIDS (London) (04.11.2005)
Published in AIDS (London) (04.11.2005)
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Peptide insertions in reverse transcriptase pol gene of human immunodeficiency virus type 1 as a rare cause of persistent antiretroviral therapeutic failure
Schneider, Véronique, Legoff, Jérôme, Bélec, Laurent, Delphin, Nathalie, Dutreuil, Corinne, Kara-Mostefa, Ali, Rozenbaum, Willy, Nicolas, Jean-Claude
Published in Clinical microbiology and infection (01.02.2004)
Published in Clinical microbiology and infection (01.02.2004)
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Treatment interruption after one year of triple nucleoside analogue therapy for primary HIV infection
GIRARD, Pierre-Marie, SCHNEIDER, Véronique, NICOLAS, Jean-Claude, ROZENBAUM, Willy, DEHEE, Axelle, MARIOT, Philippe, JACOMET, Christine, DELPHIN, Nathalie, DAMOND, Florence, CARCELAIN, Guislaine, AUTRAN, Brigitte, SAIMOT, Adrien Gérard
Published in AIDS (London) (26.01.2001)
Published in AIDS (London) (26.01.2001)
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