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Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease

Autor: Auray-Blais, Christiane, Cyr, Denis, Ntwari, Aimé, West, Michael L., Cox-Brinkman, Josanne, Bichet, Daniel G., Germain, Dominique P., Laframboise, Rachel, Melançon, Serge B., Stockley, Tracy, Clarke, Joe T.R., Drouin, Régen

Publikováno v: In Molecular Genetics and Metabolism 2008 93(3):331-340

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Autor: Rice, Gillian, Patrick, Teresa, Parmar, Rekha, Taylor, Claire F., Aeby, Alec, Aicardi, Jean, Artuch, Rafael, Montalto, Simon Attard, Bacino, Carlos A., Barroso, Bruno, Baxter, Peter, Benko, Willam S., Bergmann, Carsten, Bertini, Enrico, Biancheri, Roberta, Blair, Edward M., Blau, Nenad, Bonthron, David T., Briggs, Tracy, Brueton, Louise A., Brunner, Han G., Burke, Christopher J., Carr, Ian M., Carvalho, Daniel R., Chandler, Kate E., Christen, Hans-Jürgen, Corry, Peter C., Cowan, Frances M., Cox, Helen, D’Arrigo, Stefano, Dean, John, De Laet, Corinne, De Praeter, Claudine, Déry, Catherine, Ferrie, Colin D., Flintoff, Kim, Frints, Suzanna G.M., Garcia-Cazorla, Angels, Gener, Blanca, Goizet, Cyril, Goutières, Françoise, Green, Andrew J., Guët, Agnès, Hamel, Ben C.J., Hayward, Bruce E., Heiberg, Arvid, Hennekam, Raoul C., Husson, Marie, Jackson, Andrew P., Jayatunga, Rasieka, Jiang, Yong-Hui, Kant, Sarina G., Kao, Amy, King, Mary D., Kingston, Helen M., Klepper, Joerg, van der Knaap, Marjo S., Kornberg, Andrew J., Kotzot, Dieter, Kratzer, Wilfried, Lacombe, Didier, Lagae, Lieven, Landrieu, Pierre Georges, Lanzi, Giovanni, Leitch, Andrea, Lim, Ming J., Livingston, John H., Lourenco, Charles M., Lyall, E. G. Hermione, Lynch, Sally A., Lyons, Michael J., Marom, Daphna, McClure, John P., McWilliam, Robert, Melancon, Serge B., Mewasingh, Leena D., Moutard, Marie-Laure, Nischal, Ken K., Østergaard, John R., Prendiville, Julie, Rasmussen, Magnhild, Rogers, R. Curtis, Roland, Dominique, Rosser, Elisabeth M., Rostasy, Kevin, Roubertie, Agathe, Sanchis, Amparo, Schiffmann, Raphael, Scholl-Bürgi, Sabine, Seal, Sunita, Shalev, Stavit A., Corcoles, C. Sierra, Sinha, Gyan P., Soler, Doriette, Spiegel, Ronen, Stephenson, John B.P., Tacke, Uta, Tan, Tiong Yang, Till, Marianne, Tolmie, John L., Tomlin, Pam, Vagnarelli, Federica, Valente, Enza Maria, Van Coster, Rudy N.A., Van der Aa, Nathalie, Vanderver, Adeline, Vles, Johannes S.H., Voit, Thomas, Wassmer, Evangeline, Weschke, Bernhard, Whiteford, Margo L., Willemsen, Michel A.A., Zankl, Andreas, Zuberi, Sameer M., Orcesi, Simona, Fazzi, Elisa, Lebon, Pierre, Crow, Yanick J.

Publikováno v: In The American Journal of Human Genetics 2007 81(4):713-725

Location Score and Haplotype Analyses of the Locus for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, in Chromosome Region 13q11

Autor: Richter, Andrea, Rioux, John D., Bouchard, Jean-Pierre, Mercier, Jocelyne, Mathieu, Jean, Ge, Bing, Poirier, Josée, Julien, Dominique, Gyapay, Gabor, Weissenbach, Jean, Hudson, Thomas J., Melançon, Serge B., Morgan, Kenneth

Publikováno v: In The American Journal of Human Genetics 1999 64(3):768-775

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