PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia
Ozes, B., Karagoz, N., Schüle, R., Rebelo, A., Sobrido, M.‐J., Harmuth, F., Synofzik, M., Pascual, S.I.P., Colak, M., Ciftci‐Kavaklioglu, B., Kara, B., Ordóñez‐Ugalde, A., Quintáns, B., Gonzalez, M.A., Soysal, A., Zuchner, S., Battaloglu, E.
Published in Clinical genetics (01.11.2017)
Published in Clinical genetics (01.11.2017)
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Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population
Esperón-Moldes, U. S., Pardo-Seco, J., Montalván-Suárez, M., Fachal, L., Ginarte, M., Rodríguez-Pazos, L., Gómez-Carballa, A., Moscoso, F., Ugalde-Noritz, N., Ordóñez-Ugalde, A., Tettamanti-Miranda, D., Ruiz, J. C., Salas, A., Vega, A.
Published in Scientific reports (09.05.2019)
Published in Scientific reports (09.05.2019)
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The geographic mosaic of Ecuadorian Y-chromosome ancestry
Toscanini, U., Gaviria, A., Pardo-Seco, J., Gómez-Carballa, A., Moscoso, F., Vela, M., Cobos, S., Lupero, A., Zambrano, A.K., Martinón-Torres, F., Carabajo-Marcillo, A., Yunga-León, R., Ugalde-Noritz, N., Ordoñez-Ugalde, A., Salas, A.
Published in Forensic science international : genetics (01.03.2018)
Published in Forensic science international : genetics (01.03.2018)
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Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants
Cacheiro, P., Ordóñez-Ugalde, A., Quintáns, B., Piñeiro-Hermida, S., Amigo, J., García-Murias, M., Pascual-Pascual, S. I., Grandas, F., Arpa, J., Carracedo, A., Sobrido, M. J.
Published in Molecular diagnosis & therapy (01.06.2017)
Published in Molecular diagnosis & therapy (01.06.2017)
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Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
Keller, Annika, Westenberger, Ana, Sobrido, Maria J, García-Murias, Maria, Domingo, Aloysius, Sears, Renee L, Lemos, Roberta R, Ordoñez-Ugalde, Andres, Nicolas, Gael, da Cunha, José E Gomes, Rushing, Elisabeth J, Hugelshofer, Michael, Wurnig, Moritz C, Kaech, Andres, Reimann, Regina, Lohmann, Katja, Dobričić, Valerija, Carracedo, Angel, Petrović, Igor, Miyasaki, Janis M, Abakumova, Irina, Mäe, Maarja Andaloussi, Raschperger, Elisabeth, Zatz, Mayana, Zschiedrich, Katja, Klepper, Jörg, Spiteri, Elizabeth, Prieto, Jose M, Navas, Inmaculada, Preuss, Michael, Dering, Carmen, Janković, Milena, Paucar, Martin, Svenningsson, Per, Saliminejad, Kioomars, Khorshid, Hamid R K, Novaković, Ivana, Aguzzi, Adriano, Boss, Andreas, Le Ber, Isabelle, Defer, Gilles, Hannequin, Didier, Kostić, Vladimir S, Campion, Dominique, Geschwind, Daniel H, Coppola, Giovanni, Betsholtz, Christer, Klein, Christine, Oliveira, Joao R M
Published in Nature genetics (01.09.2013)
Published in Nature genetics (01.09.2013)
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A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia
Seixas, Ana I., Loureiro, Joana R., Costa, Cristina, Ordóñez-Ugalde, Andrés, Marcelino, Hugo, Oliveira, Cláudia L., Loureiro, José L., Dhingra, Ashutosh, Brandão, Eva, Cruz, Vitor T., Timóteo, Angela, Quintáns, Beatriz, Rouleau, Guy A., Rizzu, Patrizia, Carracedo, Ángel, Bessa, José, Heutink, Peter, Sequeiros, Jorge, Sobrido, Maria J., Coutinho, Paula, Silveira, Isabel
Published in American journal of human genetics (06.07.2017)
Published in American journal of human genetics (06.07.2017)
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