檢索結果 - Calvas, Patrick

Genetic Advances in Microphthalmia 由 Plaisancie, Julie, Calvas, Patrick, Chassaing, Nicolas

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Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia 由 Desmaison, Annaïck, Vigouroux, Adeline, Rieubland, Claudine, Peres, Christine, Calvas, Patrick, Chassaing, Nicolas

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Linkage analysis of high myopia susceptibility locus in 26 families 由 Paget, Sandrine, Julia, Sophie, Vitezica, Zulma G., Soler, Vincent, Malecaze, François, Calvas, Patrick

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Quality of DNA Extracted from Mouthwashes 由 Zayats, Tetyana, Young, Terri L., Mackey, David A., Malecaze, François, Calvas, Patrick, Guggenheim, Jeremy A.

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Confirmation of RAX gene involvement in human anophthalmia 由 Lequeux, L., Rio, Marlène, Vigouroux, Armelle, Titeux, Matthias, Etchevers, Heather, Malecaze, François, Chassaing, Nicolas, Calvas, Patrick

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Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient 由 Marquet, Valentine, Bourgeois, Dominique, De Mas, Philippe, Bouneau, Laurence, Vigouroux-Castera, Adeline, Molignier, Romain, Calvas, Patrick

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Genetic Factors for Choroidal Neovascularization Associated with High Myopia 由 Leveziel, Nicolas, Yu, Yi, Reynolds, Robyn, Tai, Albert, Meng, Weihua, Caillaux, Violaine, Calvas, Patrick, Rosner, Bernard, Malecaze, François, Souied, Eric H., Seddon, Johanna M.

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Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation 由 Herman-Bert, Alexandra, Stevanin, Giovanni, Netter, Jean-Claude, Rascol, Olivier, Brassat, David, Calvas, Patrick, Camuzat, Agnès, Yuan, Qiu-ping, Schalling, Martin, Dürr, Alexandra, Brice, Alexis

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An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error 由 Abbott, Diana, Li, Yi-Ju, Guggenheim, Jeremy A., Metlapally, Ravikanth, Malecaze, Francois, Calvas, Patrick, Rosenberg, Thomas, Paget, Sandrine, Zayats, Tetyana, Mackey, David A., Feng, Sheng, Young, Terri L.

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Genetic Association of Insulin-like Growth Factor-1 Polymorphisms with High-Grade Myopia in an International Family Cohort 由 Metlapally, Ravikanth, Ki, Chang-Seok, Li, Yi-Ju, Tran-Viet, Khanh-Nhat, Abbott, Diana, Malecaze, Francois, Calvas, Patrick, Mackey, David A., Rosenberg, Thomas, Paget, Sandrine, Guggenheim, Jeremy A., Young, Terri L.

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Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma 由 Aubert-Mucca, Marion, Pernin-Grandjean, Julie, Marchasson, Sébastien, Gaston, Veronique, Habib, Christophe, Meunier, Isabelle, Sigaudy, Sabine, Kaplan, Josseline, Roche, Olivier, Denis, Danièle, Bitoun, Pierre, Haye, Damien, Verloes, Alain, Calvas, Patrick, Chassaing, Nicolas, Plaisancié, Julie

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COL1A1 and COL2A1 Genes and Myopia Susceptibility: Evidence of Association and Suggestive Linkage to the COL2A1 Locus 由 Metlapally, Ravikanth, Li, Yi-Ju, Tran-Viet, Khanh-Nhat, Abbott, Diana, Czaja, Gregory R., Malecaze, Francois, Calvas, Patrick, Mackey, David, Rosenberg, Thomas, Paget, Sandrine, Zayats, Tetyana, Owen, Michael J., Guggenheim, Jeremy A., Young, Terri L.

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Association Mapping of the High-Grade Myopia MYP3 Locus Reveals Novel Candidates UHRF1BP1L, PTPRR, and PPFIA2 由 Hawthorne, Felicia, Feng, Sheng, Metlapally, Ravikanth, Li, Yi-Ju, Tran-Viet, Khanh-Nhat, Guggenheim, Jeremy A., Malecaze, Francois, Calvas, Patrick, Rosenberg, Thomas, Mackey, David A., Venturini, Cristina, Hysi, Pirro G., Hammond, Christopher J., Young, Terri L.

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An International Collaborative Family-Based Whole-Genome Linkage Scan for High-Grade Myopia 由 Li, Yi-Ju, Guggenheim, Jeremy A., Bulusu, Anuradha, Metlapally, Ravikanth, Abbott, Diana, Malecaze, Francois, Calvas, Patrick, Rosenberg, Thomas, Paget, Sandrine, Creer, Rosalind C., Kirov, George, Owen, Michael J., Zhao, Bei, White, Tristan, Mackey, David A., Young, Terri L.

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Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia 由 Srour, Myriam, Chitayat, David, Caron, Véronique, Chassaing, Nicolas, Bitoun, Pierre, Patry, Lysanne, Cordier, Marie-Pierre, Capo-Chichi, José-Mario, Francannet, Christine, Calvas, Patrick, Ragge, Nicola, Dobrzeniecka, Sylvia, Hamdan, Fadi F., Rouleau, Guy A., Tremblay, André, Michaud, Jacques L.

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Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia 由 Srour, Myriam, Chitayat, David, Caron, Véronique, Chassaing, Nicolas, Bitoun, Pierre, Patry, Lysanne, Cordier, Marie-Pierre, Capo-Chichi, José-Mario, Francannet, Christine, Calvas, Patrick, Ragge, Nicola, Dobrzeniecka, Sylvia, Hamdan, Fadi F., Rouleau, Guy A., Tremblay, André, Michaud, Jacques L.

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X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family 由 Laumonnier, Frédéric, Bonnet-Brilhault, Frédérique, Gomot, Marie, Blanc, Romuald, David, Albert, Moizard, Marie-Pierre, Raynaud, Martine, Ronce, Nathalie, Lemonnier, Eric, Calvas, Patrick, Laudier, Béatrice, Chelly, Jamel, Fryns, Jean-Pierre, Ropers, Hans-Hilger, Hamel, Ben C. J., Andres, Christian, Barthélémy, Catherine, Moraine, Claude, Briault, Sylvain

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ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia 由 Fares-Taie, Lucas, Gerber, Sylvie, Chassaing, Nicolas, Clayton-Smith, Jill, Hanein, Sylvain, Silva, Eduardo, Serey, Margaux, Serre, Valérie, Gérard, Xavier, Baumann, Clarisse, Plessis, Ghislaine, Demeer, Bénédicte, Brétillon, Lionel, Bole, Christine, Nitschke, Patrick, Munnich, Arnold, Lyonnet, Stanislas, Calvas, Patrick, Kaplan, Josseline, Ragge, Nicola, Rozet, Jean-Michel

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Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders 由 Grelet, Maude, Blanck, Véronique, Sigaudy, Sabine, Philip, Nicole, Giuliano, Fabienne, Khachnaoui, Khaoula, Morel, Godelieve, Grotto, Sarah, Sophie, Julia, Poirsier, Céline, Lespinasse, James, Alric, Laurent, Calvas, Patrick, Chalhoub, Gihane, Layet, Valérie, Molin, Arnaud, Colson, Cindy, Marsili, Luisa, Edery, Patrick, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara

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Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network 由 Chassaing, Nicolas, Davis, Erica E., McKnight, Kelly L., Niederriter, Adrienne R., Causse, Alexandre, David, Véronique, Desmaison, Annaïck, Lamarre, Sophie, Vincent-Delorme, Catherine, Pasquier, Laurent, Coubes, Christine, Lacombe, Didier, Rossi, Massimiliano, Dufier, Jean-Louis, Dollfus, Helene, Kaplan, Josseline, Katsanis, Nicholas, Etchevers, Heather C., Faguer, Stanislas, Calvas, Patrick

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