Repeatedly washed semen stains: Optimal screening and sampling strategies for DNA analysis von Noël, Sarah, Lagacé, Karine, Raymond, Sylvain, Granger, Dominic, Loyer, Magali, Bourgoin, Sarah, Jolicoeur, Christine, Séguin, Diane

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Mutational analysis and clinical correlation in Leber congenital amaurosis von Dharmaraj, Sharola, Silva, Eduardo, Pina, Ana Luisa, Li, Ying Ying, Yang, Jun-Ming, Carter, R. Colin, Loyer, Magali, El-Hilali, Hala, Traboulsi, Elias, Sundin, Olof, Zhu, Danping, Koenekoop, Robert K., Maumenee, Irene H.

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Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p von Damji, Karim F., MD, Sohocki, Melanie M., PhD, Khan, Ravesh, MB BS, Gupta, Sanjoy K., MD, PhD, Rahim, Musa, MB BS, MHA, Loyer, Magali, MSc, Hussein, Naushad, MD, Karim, Nermin, OD, Ladak, Shenif S., MD, Jamal, Alnoor, MS, Bulman, Dennis, PhD, Koenekoop, Robert K., MD, PhD

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Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families von Koenekoop, Robert K, Loyer, Magali, Hand, Collette K, Al Mahdi, Huda, Dembinska, Olga, Beneish, Raquel, Racine, Julie, Rouleau, Guy A

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Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects von Tucker, Chandra L, Ramamurthy, Visvanathan, Pina, Ana-Luisa, Loyer, Magali, Dharmaraj, Sharola, Li, Yingying, Maumenee, Irene H, Hurley, James B, Koenekoop, Robert K

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A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene von Piña, Ana Luisa, Baumert, Uwe, Loyer, Magali, Koenekoop, Robert K

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NovelRPGRmutations with distinct retinitis pigmentosa phenotypes in French-Canadian families von Koenekoop, Robert K, Loyer, Magali, Hand, Collette K, Al Mahdi, Huda, Dembinska, Olga, Beneish, Raquel, Racine, Julie, Rouleau, Guy A

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Visual improvement in Leber congenital amaurosis and the CRX genotype von Koenekoop, Robert K., Loyer, Magali, Dembinska, Olga, Beneish, Raquel

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A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis von Silva, Eduardo, Dharmaraj, Sharola, Li, Ying Ying, Pina, Ana Luisa, Carter, Robert Colin, Loyer, Magali, Traboulsi, Elias, Theodossiadis, George, Koenekoop, Robert, Sundin, Olof, Maumenee, Irene

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A missense mutation in GUCY2Dacts as a genetic modifier in RPE65-related Leber Congenital Amaurosis von Silva, Eduardo, Dharmaraj, Sharola, Li, Ying Ying, Pina, Ana Luisa, Carter, Robert Colin, Loyer, Magali, Traboulsi, Elias, Theodossiadis, George, Koenekoop, Robert, Sundin, Olof, Maumenee, Irene

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Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease von AKERMAN, B. R, NATOWICZ, M. R, KABACK, M. M, LOYER, M, CAMPEAU, E, GRAVEL, R. A

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Interallelic complementation of β-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs von Loyer, Magali, Leclerc, Daniel, Gravel, Roy A.

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Correction of the Metabolic Defect in Propionic Acidemia Fibroblasts by Microinjection of a Full-Length cDNA or RNA Transcript Encoding the Propionyl-CoA Carboxylase β Subunit von Lamhonwah, Anne-Marie, Leclerc, Daniel, Loyer, Magali, Clarizio, Rino, Gravel, Roy A.

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Mutational analysis and clinical correlation in Leber congenital amaurosis von Dharmaraj, Sharola, Silva, Eduardo, Pina, Ana Luisa, Li, Ying Ying, Yang, Jun-Ming, Carter, R. Colin, Loyer, Magali, El-Hilali, Hala, Traboulsi, Elias, Sundin, Olof, Zhu, Danping, Koenekoop, Robert K., Maumenee, Irene H.

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Imagerie numérique et patrimoine culturel : enjeux scientifiques et opérationnels von Abergel, Violette, Arnaud, Jean-Luc, Bailly, Maxence, Bartette, Titien, Berthelot, Clémentine, Binet, Cécile, Bontemps, Laura, Boudec, avec la collaboration d’Agnès Le, Buglio, David Lo, Caron, Guillaume, Cassen, Serge, Clouard, Régis, Daret, Arnaud, Dojat, Michel, Dufaÿ, Bruno, Eusèbe, Sylvie, Ewague, Abdelhadi, Fuentes, Oscar, Goron, Anne-Laure, Graff, Gwenola, Grimaud, Valentin, Groux-Leclet, Dominique, Guéna, François, Guillon, Odile, Halin, Gilles, Hégarat, Thibault Le, Jacquot, Kévin, Kerfant, Céline, Konik, Stéphane, Lepelé, Julie, Lequay, Hervé, Liévaux, Pascal, Liévaux, Responsables scientifiques : Pascal, Loyer, Martin, Luca, Livio De, Luca, sous la direction de Livio De, Mathieu, Hervé, May, Roland, Mélandri, Magali, Messaoudi, Tommy, Moataz, Abderrahim El, Morbidi, Fabio, Mouaddib, El Mustapha, Moulherat, Christophe, Nicosia, Grazia, Pamart, Anthony, Pinçon, Geneviève, Rassat, Sylvain, Rawlinson-Mazeri, Emily, Rosso, Emmanuelle, Roux, Joëlle Le, Ruggiu, François-Joseph, Saleri, Renato, Simenel, Romain, Thivet, Matthieu, Vallet, Jean-Marc, Verney, Antoine, Véron, Philippe, Verriez, Quentin, Vurpillot, Damien, Wallens, Anne de, Zidane, Katia

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Over-expression of wild-type and mutant HFE in a human melanocytic cell line reveals an intracellular bridge between MHC class I pathway and transferrin iron uptake von Fergelot, Patricia, Orhant, Magali, Thénié, Agnès, Loyer, Pascal, Ropert-Bouchet, Martine, Lohyer, Stéphanie, Le Gall, Jean-Yves, Mosser, Jean

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