Works by Abitbol, Marc

Results: 24

Retinal cell type expression specificity of HIV-1-derived gene transfer vectors upon subretinal injection in the adult rat: influence of pseudotyping and promoter.

Published in:

Journal of Gene Medicine, 2005, v. 7, n. 10, p. 1367, doi. 10.1002/jgm.788

By:

Bemelmans, Alexis-Pierre;
Bonnel, Sébastien;
Houhou, Leïla;
Dufour, Noëlle;
Nandrot, Emeline;
Helmlinger, Dominique;
Sarkis, Chamsy;
Abitbol, Marc;
Mallet, Jacques

Publication type:

Article

Insulin-like 4 (INSL4) gene expression in human embryonic and trophoblastic tissues.

Published in:

Molecular Reproduction & Development, 1998, v. 51, n. 2, p. 123, doi. 10.1002/(SICI)1098-2795(199810)51:2<123::AID-MRD1>3.0.CO;2-S

By:

Laurent, Anne;
Rouillac, Christelle;
Delezoide, Anne-Lise;
Giovangrandi, Yves;
Vekemans, Michel;
Bellet, Dominique;
Abitbol, Marc;
Vidaud, Michel

Publication type:

Article

Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 1, doi. 10.1186/1471-2350-7-82

By:

de la Houssaye, Guillaume;
Bieche, Ivan;
Roche, Olivier;
Vieira, Véronique;
Laurendeau, Ingrid;
Arbogast, Laurence;
Zeghidi, Hatem;
Rapp, Philippe;
Halimi, Philippe;
Vidaud, Michel;
Dufier, Jean-Louis;
Menasche, Maurice;
Abitbol, Marc

Publication type:

Article

Nestin contributes to laser choroidal and retinal neovascularization.

Published in:

Molecular Vision, 2022, v. 28, p. 280

By:

Miloudi, Sofiane;
Valensi, Maud;
El Sanharawi, Mohamed;
Abitbol, Marc M.;
Behar-Cohen, Francine;
Versaux-Botteri, Claudine

Publication type:

Article

A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.

Published in:

Human Mutation, 2007, v. 28, n. 2, p. 137, doi. 10.1002/humu.20449

By:

Miné, Manuèle;
Chen, Jian-Min;
Brivet, Michèle;
Desguerre, Isabelle;
Marchant, Dominique;
de Lonlay, Pascale;
Bernard, Aral;
Férec, Claude;
Abitbol, Marc;
Ricquier, Daniel;
Marsac, Cécile

Publication type:

Article

A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.

Published in:

Human Mutation, 2006, v. 27, n. 6, p. 553, doi. 10.1002/humu.20331

By:

Boutboul, Sandrine;
Black, Graeme C.M.;
Moore, John E.;
Sinton, Janet;
Menasche, Maurice;
Munier, Francis L.;
Laroche, Laurent;
Abitbol, Marc;
Schorderet, Daniel F.

Publication type:

Article

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency.

Published in:

Human Mutation, 2001, v. 17, n. 5, p. 374, doi. 10.1002/humu.1112

By:

Péquignot, Marie O.;
Dey, Runu;
Zeviani, Massimo;
Tiranti, Valeria;
Godinot, Catherine;
Poyau, Alain;
Sue, Caroline;
Di Mauro, Salvatore;
Abitbol, Marc;
Marsac, Cécile

Publication type:

Article

Mutation analysis of the tyrosinase gene in oculocutaneous albinism.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 352, doi. 10.1002/humu.38

By:

Camand, Olivier;
Marchant, Dominique;
Boutboul, Sandrine;
Péquignot, Marie;
Odent, Sylvie;
Dollfus, Hélène;
Sutherland, Joanne;
Levin, Alex;
Menasche, Maurice;
Marsac, Cécile;
Dufier, Jean-Louis;
Heon, Elise;
Abitbol, Marc

Publication type:

Article

Identification of novel PAX6 mutations in two families with bilateral aniridia.

Published in:

Human Mutation, 1998, v. 12, n. 2, p. 138, doi. 10.1002/(SICI)1098-1004(1998)12:2<138::AID-HUMU18>3.0.CO;2-A

By:

Neuner-Jehle, Martin;
Munier, Francis;
Kobetz, Alexandra;
Sahly, Iman;
Uteza, Yves;
Mermoud, André;
Schorderet, Daniel F.;
Dufier, Jean-Louis;
Abitbol, Marc

Publication type:

Article

Identification of a novel PAX6 gene mutation in an Aniridia patient.

Published in:

Human Mutation, 1996, v. 7, n. 4, p. 377, doi. 10.1002/(SICI)1098-1004(1996)7:4<377::AID-HUMU19>3.0.CO;2-#

By:

Sahly, Iman;
Abitbol, Marc;
Laurent, Claudine;
Ghazi, Imad;
Ribeaudeau, Florence;
Vekemans, Michel;
Dufier, Jean-Louis

Publication type:

Article

Quantitative analysis of intravitreal injections in the rat.

Published in:

Current Eye Research, 2001, v. 22, n. 1, p. 74, doi. 10.1076/ceyr.22.1.74.6974

By:

Dureau, Pascal;
Bonnel, Sébastien;
Menasche, Maurice;
Dufier, Jean-Louis;
Abitbol, Marc

Publication type:

Article

Near-complete adaptation of the PRiMA knockout to the lack of central acetylcholinesterase.

Published in:

Journal of Neurochemistry, 2012, v. 122, n. 5, p. 1065, doi. 10.1111/j.1471-4159.2012.07856.x

By:

Farar, Vladimir;
Mohr, Franziska;
Legrand, Marie;
Lamotte d'Incamps, Boris;
Cendelin, Jan;
Leroy, Jacqueline;
Abitbol, Marc;
Bernard, Veronique;
Baud, Frédéric;
Fournet, Vincent;
Houze, Pascal;
Klein, Jochen;
Plaud, Benoit;
Tuma, Jan;
Zimmermann, Martina;
Ascher, Philippe;
Hrabovska, Anna;
Myslivecek, Jaromir;
Krejci, Eric

Publication type:

Article

Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 2, p. 287

By:

Ye, Ming;
Berry-Wynne, Karyn M.;
Asai-Coakwell, Mika;
Sundaresan, Periasamy;
Footz, Tim;
French, Curtis R.;
Abitbol, Marc;
Fleisch, Valerie C.;
Corbett, Nathan;
Allison, W. Ted;
Drummond, Garry;
Walter, Michael A.;
Underhill, T. Michael;
Waskiewicz, Andrew J.;
Lehmann, Ordan J.

Publication type:

Article

Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 6, p. 1110, doi. 10.1093/hmg/ddp008

By:

Asai-Coakwell, Mika;
French, Curtis R.;
Ye, Ming;
Garcha, Kamal;
Bigot, Karin;
Perera, Anoja G.;
Staehling-Hampton, Karen;
Mema, Silvina C.;
Chanda, Bhaskar;
Mushegian, Arcady;
Bamforth, Steven;
Doschak, Michael R.;
Li, Guang;
Dobbs, Matthew B.;
Giampietro, Philip F.;
Brooks, Brian P.;
Vijayalakshmi, Perumalsamy;
Sauvé, Yves;
Abitbol, Marc;
Sundaresan, Periasamy

Publication type:

Article

Mutational analysis of the OA1 gene in ocular albinism.

Published in:

Ophthalmic Genetics, 2003, v. 24, n. 3, p. 167, doi. 10.1076/opge.24.3.167.15605

By:

Camand, Olivier;
Boutboul, Sandrine;
Le Gat, Laurence;
Arbogast, Laurence;
Roche, Olivier;
Sternberg, Claude;
Sutherland, Joanne;
Levin, Alex;
Heon, Elise;
Menasche, Maurice;
Dufier, Jean-Louis;
Abitbol, Marc

Publication type:

Article

Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts.

Published in:

Ophthalmic Genetics, 2002, v. 23, n. 4, p. 199, doi. 10.1076/opge.23.4.199.13881

By:

Hilal, Latifa;
Nandrot, Emeline;
Belmekki, Mohamed;
Chefchaouni, Mohamed;
El Bacha, Siham;
Benazzouz, Bouchra;
Hajaji, Yassir;
Gribouval, Olivier;
Dufier, Jean-Louis;
Abitbol, Marc;
Berraho, Amina

Publication type:

Article

SOX22 is a New Member of the SOX Gene Family, Mainly Expressed in Human Nervous Tissue.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1069, doi. 10.1093/hmg/6.7.1069

By:

Jay, Philippe;
Sahly, Iman;
Gozé, Catherine;
Taviaux, Sylvie;
Poulat, Francis;
Couly, Gérard;
Abitbol, Marc;
Berta, Philippe

Publication type:

Article

Human Usher 1B/Mouse shaker-1: The Retinal Phenotype Discrepancy Explained By The Presence/Absence of Myosin VIIA in The Photoreceptor Cells.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 8, p. 1171, doi. 10.1093/hmg/5.8.1171

By:

El-Amraoui, Aziz;
Sahly, Iman;
Picaud, Serge;
Sahel, José;
Abitbol, Marc;
Petit, Christine

Publication type:

Article

Retinal vascular abnormalities in children with neurofibromatosis type 1.

Published in:

2022

By:

Touzé, Romain;
Abitbol, Marc;
Bremond‐Gignac, Dominique;
Robert, Matthieu

Publication type:

Case Study

Sostdc1 is expressed in all major compartments of developing and adult mammalian eyes.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2019, v. 257, n. 11, p. 2401, doi. 10.1007/s00417-019-04462-4

By:

Valensi, Maud;
Goldman, Gabrielle;
Marchant, Dominique;
Van Den Berghe, Loïc;
Jonet, Laurent;
Daruich, Alejandra;
Robert, Matthieu P.;
Krejci, Eric;
Klein, Christophe;
Mascarelli, Frédéric;
Versaux-Botteri, Claudine;
Moulin, Alexandre;
Putterman, Marc;
Guimiot, Fabien;
Molina, Thierry;
Terris, Benoît;
Brémond-Gignac, Dominique;
Behar-Cohen, Francine;
Abitbol, Marc M.

Publication type:

Article

Requirement of age-dependent normalization of spectral-domain optical coherent tomography parameters in non-human primates for translational studies.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2019, v. 257, n. 3, p. 453, doi. 10.1007/s00417-019-04238-w

By:

Abitbol, Marc M.

Publication type:

Article

Novel insights provided by spectral-domain coherent tomography in pediatric ophthalmology.

Published in:

2014

By:

Abitbol, Marc

Publication type:

Editorial

92. Efficient Trangene Expression in Central Nervous System through a Non-Integrative Lentiviral Vector

Published in:

2005

By:

Philippe, Stephanie;
Serguera, Che;
Bonnel, Sebastien;
Vetu, Christelle;
Barkats, Martine;
Petit, Caroline;
Abitbol, Marc;
Sarkis, Chamsy;
Mallet, Jacques

Publication type:

Abstract

Amyloid Precursor-Like Protein 2 deletion-induced retinal synaptopathy related to congenital stationary night blindness: structural, functional and molecular characteristics.

Published in:

Molecular Brain, 2016, v. 9, p. 1, doi. 10.1186/s13041-016-0245-z

By:

Dinet, Virginie;
Ciccotosto, Giuseppe D.;
Delaunay, Kimberley;
Borras, Céline;
Ranchon-Cole, Isabelle;
Kostic, Corinne;
Savoldelli, Michèle;
El Sanharawi, Mohamed;
Jonet, Laurent;
Pirou, Caroline;
Na An;
Abitbol, Marc;
Arsenijevic, Yvan;
Behar-Cohen, Francine;
Cappai, Roberto;
Mascarelli, Frédéric

Publication type:

Article