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1

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

2

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecular diagnosis

Sylvain Hanein, Isabelle Perrault, Sylvie Gerber, Gaëlle Tanguy, Fabienne Barbet, Dominique Ducroq, Patrick Calvas, Hélène Dollfus, Christian Hamel, Tuija Lopponen, Francis Munier, Louisa Santos, Stav

Journal:

Year:

2004

Language:

english

File:

PDF, 212 KB

english, 2004

3

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype

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

Journal:

Year:

2010

Language:

english

File:

PDF, 104 KB

english, 2010

4

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

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, Josse

Journal:

Year:

2002

Language:

english

File:

PDF, 57 KB

english, 2002

5

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

6

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

7

The role of fat, animal protein and some vitamin consumption in breast cancer: A case control study in Southern France

Mariette Gerber, Sylvie Cenée

Journal:

International Journal of Cancer

Year:

1991

Language:

english

File:

PDF, 979 KB

english, 1991

8

Can viability assessment by DE-MRI predict survival in patients with multivessel disease and low ejection fraction? Influence of treatment strategies

Bernhard L Gerber, Sylvie Ahn, Jean-Benoit le Polain de Waroux, Anne-Catherine Pouleur, Agnès Pasquet, Jean-Louis Vanoverschelde, Michel Rousseau

Journal:

Journal of Cardiovascular Magnetic Resonance

Year:

2011

Language:

english

File:

PDF, 183 KB

english, 2011

9

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

10

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition

Sylvie Gerber, Jean-Michel Rozet, Shin-Ichiro Takezawa, Luisa Coutinho dos Santos, Lucilia Lopes, Olivier Gribouval, Clotilde Penet, Isabelle Perrault, Dominique Ducroq, Eric Souied, Marc Jeanpierre,

Journal:

Year:

2000

Language:

english

File:

PDF, 313 KB

english, 2000

11

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

12

Relationships between demography and gene flow and their importance for the conservation of tree populations in tropical forests under selective felling regimes

Holger Wernsdörfer, Henri Caron, Sophie Gerber, Guillaume Cornu, Vivien Rossi, Frédéric Mortier, Sylvie Gourlet-Fleury

Journal:

Conservation Genetics

Year:

2011

Language:

english

File:

PDF, 592 KB

english, 2011

13

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

14

Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis

Perrault, Isabella, Rozet, Jean Michel, Calvas, Patrick, Gerber, Sylvie, Camuzat, Agnès, Dollfus, Hélène, Châtelin, Sophie, Souied, Eric, Ghazi, Ihmad, Leowski, Corinne

Journal:

Nature Genetics

Year:

1996

File:

PDF, 523 KB

1996

15

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

16

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

17

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

18

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

19

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

20

TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy

Sylvain Hanein, Isabelle Perrault, Olivier Roche, Sylvie Gerber, Noman Khadom, Marlene Rio, Nathalie Boddaert, Marc Jean-Pierre, Nora Brahimi, Valérie Serre, Dominique Chretien, Nathalie Delphin, Luca

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.07 MB

english, 2009

21

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Isabelle Perrault, Sophie Saunier, Sylvain Hanein, Emilie Filhol, Albane A. Bizet, Felicity Collins, Mustafa A.M. Salih, Sylvie Gerber, Nathalie Delphin, Karine Bigot, Christophe Orssaud, Eduardo Silv

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 667 KB

english, 2012

22

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

23

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

24

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

25

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

26

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

27

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

28

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

29

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

30

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

31

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

32

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

33

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

34

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

Perrault, Isabelle, Hanein, Sylvain, Zanlonghi, Xavier, Serre, Valérie, Nicouleau, Michael, Defoort-Delhemmes, Sabine, Delphin, Nathalie, Fares-Taie, Lucas, Gerber, Sylvie, Xerri, Olivia, Edelson, Cat

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 352 KB

english, 2012

35

Prognostic Value of Myocardial Viability by Delayed-Enhanced Magnetic Resonance in Patients With Coronary Artery Disease and Low Ejection Fraction: Impact of Revascularization Therapy

Bernhard L. Gerber, Michel F. Rousseau, Sylvie A. Ahn, Jean-Benoît le Polain de Waroux, Anne-Catherine Pouleur, Thomas Phlips, David Vancraeynest, Agnès Pasquet, Jean-Louis J. Vanoverschelde

Journal:

Journal of the American College of Cardiology

Year:

2012

Language:

english

File:

PDF, 1.72 MB

english, 2012

36

ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

Fares-Taie, Lucas, Gerber, Sylvie, Chassaing, Nicolas, Clayton-Smith, Jill, Hanein, Sylvain, Silva, Eduardo, Serey, Margaux, Serre, Valérie, Gérard, Xavier, Baumann, Clarisse, Plessis, Ghislaine, Deme

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 316 KB

english, 2013

37

Acute effects of heroin on emotions in heroin-dependent patients

Blum, Julia, Gerber, Hana, Gerhard, Urs, Schmid, Otto, Petitjean, Sylvie, Riecher-Rössler, Anita, Wiesbeck, Gerhard A., Borgwardt, Stefan J., Walter, Marc

Journal:

The American Journal on Addictions

Year:

2013

Language:

english

File:

PDF, 176 KB

english, 2013

38

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

39

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, Munni

Journal:

Biochimica et Biophysica Acta (BBA) - General Subjects

Year:

2013

Language:

english

File:

PDF, 2.16 MB

english, 2013

40

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

41

Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria

Fares-Taie, Lucas, Gerber, Sylvie, Tawara, Akihiko, Ramirez-Miranda, Arturo, Douet, Jean-Yves, Verdin, Hannah, Guilloux, Antoine, Zenteno, Juan C., Kondo, Hiroyuki, Moisset, Hugo, Passet, Bruno, Yamam

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.06 MB

english, 2015

42

Expert clinical reasoning and pain assessment in mechanically ventilated patients: A descriptive study

Gerber, Anne, Thevoz, Anne-Laure, Ramelet, Anne-Sylvie

Journal:

Australian Critical Care

Year:

2015

Language:

english

File:

PDF, 593 KB

english, 2015

43

A gene for Leber's congenital amaurosis maps to chromosome 17p

Camuzat, Agnès, Dollfus, Hélène, Rozet, Jean-Michel, Gerber, Sylvie, Bonneau, Dominique, Bonnemaison, Michèle, Briard, Marie-Louise, Dufier, Jean-Louis, Ghazi, Imad, Leowski, Corinne, Weissenbach, Jea

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 519 KB

english, 1995

44

Efficient Sensing of Infected Cells in Absence of Virus Particles by Blasmacytoid Dendritic Cells Is Blocked by the Viral Ribonuclease Erns

Python, Sylvie, Gerber, Markus, Suter, Rolf, Ruggli, Nicolas, Summerfield, Artur, Siddiqui, Aleem

Journal:

Year:

2013

Language:

english

File:

PDF, 1.14 MB

english, 2013

45

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Angebault, Claire, Guichet, Pierre-Olivier, Talmat-Amar, Yasmina, Charif, Majida, Gerber, Sylvie, Fares-Taie, Lucas, Gueguen, Naig, Halloy, François, Moore, David, Amati-Bonneau, Patrizia, Manes, Gael

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.25 MB

english, 2015

46

Right Ventricular Systolic Dysfunction Assessed by Cardiac Magnetic Resonance Is a Strong Predictor of Cardiovascular Death After Coronary Bypass Grafting

Pouleur, Anne-Catherine M., Rousseau, Michel F., Ahn, Sylvie A., Amzulescu, Mihaela, Demeure, Fabian, de Meester, Christophe, Vancraeynest, David, Pasquet, Agnès, Vanoverschelde, Jean-Louis, Gerber, B

Journal:

The Annals of Thoracic Surgery

Year:

2016

Language:

english

File:

PDF, 549 KB

english, 2016

47

Incomplete penetrance of biallelic ALDH1A3 mutations

Plaisancié, Julie, Brémond-Gignac, Dominique, Demeer, Bénédicte, Gaston, Véronique, Verloes, Alain, Fares-Taie, Lucas, Gerber, Sylvie, Rozet, Jean-Michel, Calvas, Patrick, Chassaing, Nicolas

Journal:

European Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 909 KB

english, 2016

48

Design of Fe3–xO4 raspberry decorated graphene nanocomposites with high performances in lithium-ion battery

Gerber, Olivier, Bégin-Colin, Sylvie, Pichon, Benoit P., Barraud, Elodie, Lemonnier, Sébastien, Pham-Huu, Cuong, Daffos, Barbara, Simon, Patrice, Come, Jeremy, Bégin, Dominique

Journal:

Journal of Energy Chemistry

Year:

2016

Language:

english

File:

PDF, 2.16 MB

english, 2016

49

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

Gerber, Sylvie, Alzayady, Kamil J., Burglen, Lydie, Brémond-Gignac, Dominique, Marchesin, Valentina, Roche, Olivier, Rio, Marlène, Funalot, Benoit, Calmon, Raphaël, Durr, Alexandra, Gil-da-Silva-Lopes

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.32 MB

english, 2016

50

Diabè;te insipide central

Dejager, Sylvie, Foubert, L, Presberg, P, Turpin, G, Gerber, S

Journal:

EMC - Traité de Médecine AKOS

Year:

2006

Language:

french

File:

PDF, 172 KB

french, 2006

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