Search Results - Estrada-Cuzcano, Alejandro

Three novel polymorphic microsatellite markers for the glaucoma locus GLC1B by datamining tetranucleotide repeats on chromosome 2p12-q12 by Murga-Zamalloa, Carlos, Guevara-Fujita, Maria Luisa, Estrada-Cuzcano, Alejandro, Fujita, Ricardo

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Three novel polymorphic microsatellite markers for the glaucoma locus GLC1B by datamining tetranucleotide repeats on chromosome 2p12-q12 by Murga-Zamalloa, Carlos, Guevara-Fujita, Maria Luisa, Estrada-Cuzcano, Alejandro, Fujita, Ricardo

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Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy by Atkinson, Derek, Nikodinovic Glumac, Jelena, Asselbergh, Bob, Ermanoska, Biljana, Blocquel, David, Steiner, Regula, Estrada-Cuzcano, Alejandro, Peeters, Kristien, Ooms, Tinne, De Vriendt, Els, Yang, Xiang-Lei, Hornemann, Thorsten, Milic Rasic, Vedrana, Jordanova, Albena

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MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB by Guevara‐Fujita, María Luisa, Huaman‐Dianderas, Francia, Obispo, Daisy, Sánchez, Rodrigo, Barrenechea, Victor, Rojas‐Málaga, Diana, Estrada‐Cuzcano, Alejandro, Trubnykova, Milana, Cornejo‐Olivas, Mario, Marca, Victoria, Gallardo, Bertha, Dueñas‐Roque, Milagros, Protzel, Ana, Castañeda, Carlos, Abarca, Hugo, Celis, Luis, La Serna‐Infantes, Jorge, Fujita, Ricardo

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Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78) by Estrada-Cuzcano, Alejandro, Martin, Shaun, Chamova, Teodora, Synofzik, Matthis, Timmann, Dagmar, Holemans, Tine, Andreeva, Albena, Reichbauer, Jennifer, De Rycke, Riet, Chang, Dae-In, van Veen, Sarah, Samuel, Jean, Schöls, Ludger, Pöppel, Thorsten, Mollerup Sørensen, Danny, Asselbergh, Bob, Klein, Christine, Zuchner, Stephan, Jordanova, Albena, Vangheluwe, Peter, Tournev, Ivailo, Schüle, Rebecca

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Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement by Estrada-Cuzcano, Alejandro, Neveling, Kornelia, Kohl, Susanne, Banin, Eyal, Rotenstreich, Ygal, Sharon, Dror, Falik-Zaccai, Tzipora C., Hipp, Stephanie, Roepman, Ronald, Wissinger, Bernd, Letteboer, Stef J.F., Mans, Dorus A., Blokland, Ellen A.W., Kwint, Michael P., Gijsen, Sabine J., van Huet, Ramon A.C., Collin, Rob W.J., Scheffer, H., Veltman, Joris A., Zrenner, Eberhart, den Hollander, Anneke I., Klevering, B. Jeroen, Cremers, Frans P.M.

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Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype by Perrault, Isabelle, Estrada-Cuzcano, Alejandro, Lopez, Irma, Kohl, Susanne, Li, Shiqiang, Testa, Francesco, Zekveld-Vroon, Renate, Wang, Xia, Pomares, Esther, Andorf, Jean, Aboussair, Nisrine, Banfi, Sandro, Delphin, Nathalie, den Hollander, Anneke I., Edelson, Catherine, Florijn, Ralph, Jean-Pierre, Marc, Leowski, Corinne, Megarbane, Andre, Villanueva, Cristina, Flores, Blanca, Munnich, Arnold, Ren, Huanan, Zobor, Ditta, Bergen, Arthur, Chen, Rui, Cremers, Frans P. M., Gonzalez-Duarte, Roser, Koenekoop, Robert K., Simonelli, Francesca, Stone, Edwin, Wissinger, Bernd, Zhang, Qingjiong, Kaplan, Josseline, Rozet, Jean-Michel

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Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy by Otto, Edgar A., Hurd, Toby W., Airik, Rannar, Chaki, Moumita, Zhou, Weibin, Stoetzel, Corinne, Patil, Suresh B., Levy, Shawn, Ghosh, Amiya K., Murga-Zamalloa, Carlos A., van Reeuwijk, Jeroen, Letteboer, Stef J.F., Sang, Liyun, Giles, Rachel H., Liu, Qin, Coene, Karlien L. M., Estrada-Cuzcano, Alejandro, Collin, Rob W. J., McLaughlin, Heather M., Held, Susanne, Kasanuki, Jennifer M., Ramaswami, Gokul, Conte, Jinny, Lopez, Irma, Washburn, Joseph, MacDonald, James, Hu, Jinghua, Yamashita, Yukiko, Maher, Eamonn R., Guay-Woodford, Lisa, Neumann, Hartmut P.H., Obermüller, Nicholas, Koenekoop, Robert K., Bergmann, Carsten, Bei, Xiaoshu, Lewis, Richard A., Katsanis, Nicholas, Lopes, Vanda, Williams, David S., Lyons, Robert H., Dang, Chi V., Brito, Daniela A., Dias, Mónica Bettencourt, Zhang, Xinmin, Nürnberg, Gudrun, Nürnberg, Peter, Pierce, Eric, Jackson, Peter, Antignac, Corinne, Saunier, Sophie, Roepman, Ronald, Dollfus, Helene, Khanna, Hemant, Hildebrandt, Friedhelm

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