Search Results - "Dominguez‐Garrido, E."

Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene by Cervera-Acedo, C, Coloma, A, Huarte-Loza, E, Sierra-Carpio, M, Domínguez-Garrido, E

“…Alport syndrome is an inherited renal disorder characterized by glomerular basement membrane lesions with hematuria, proteinuria and frequent hearing defects…”
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Severity of COVID-19 attributable to obesity according to BMI and CUN-BAE by Fernández Crespo, S, Pérez-Matute, P, Íñiguez Martínez, M, Fernández-Villa, T, Domínguez-Garrido, E, Oteo, J A, Marcos-Delgado, A, Flores, C, Riancho, J A, Rojas-Martínez, A, Lapunzina, P, Carracedo, Á

“…INTRODUCTIONObesity is considered a risk factor in severe cases of COVID-19, which has been analysed using body mass index (BMI), an estimator that does not…”
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EFFECTS ON THE HUMAN IMMUNE SYSTEM AFTER OBINUTUZUMAB MONOTHERAPY TREATMENT by Garcia‐Munoz, R., Aguinaga, L., Feliu, J., Anton‐Remirez, J., Jorge del Val, L., Dominguez‐Garrido, E., Rabasa, P., Panizo, C.

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Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes by Garcia-Pelaez, José, Barbosa-Matos, Rita, Lobo, Silvana, Dias, Alexandre, Garrido, Luzia, Castedo, Sérgio, Sousa, Sónia, Pinheiro, Hugo, Sousa, Liliana, Monteiro, Rita, Maqueda, Joaquin J, Fernandes, Susana, Carneiro, Fátima, Pinto, Nádia, Lemos, Carolina, Pinto, Carla, Teixeira, Manuel R, Aretz, Stefan, Bajalica-Lagercrantz, Svetlana, Balmaña, Judith, Blatnik, Ana, Benusiglio, Patrick R, Blanluet, Maud, Bours, Vincent, Brems, Hilde, Brunet, Joan, Calistri, Daniele, Capellá, Gabriel, Carrera, Sergio, Colas, Chrystelle, Dahan, Karin, de Putter, Robin, Desseignés, Camille, Domínguez-Garrido, Elena, Egas, Conceição, Evans, D Gareth, Feret, Damien, Fewings, Eleanor, Fitzgerald, Rebecca C, Coulet, Florence, Garcia-Barcina, María, Genuardi, Maurizio, Golmard, Lisa, Hackmann, Karl, Hanson, Helen, Holinski-Feder, Elke, Hüneburg, Robert, Krajc, Mateja, Lagerstedt-Robinson, Kristina, Lázaro, Conxi, Ligtenberg, Marjolijn J L, Martínez-Bouzas, Cristina, Merino, Sonia, Michils, Geneviève, Novaković, Srdjan, Patiño-García, Ana, Ranzani, Guglielmina Nadia, Schröck, Evelin, Silva, Inês, Silveira, Catarina, Soto, José L, Spier, Isabel, Steinke-Lange, Verena, Tedaldi, Gianluca, Tejada, María-Isabel, Woodward, Emma R, Tischkowitz, Marc, Hoogerbrugge, Nicoline, Oliveira, Carla

“…Truncating pathogenic or likely pathogenic variants of CDH1 cause hereditary diffuse gastric cancer (HDGC), a tumour risk syndrome that predisposes carrier…”
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Radiological findings in Currarino syndrome by Pérez Vega-Leal, C, Sainz Gómez, C, Ubis Rodríguez, E, Garrido-Domínguez, E, Díez Fernández, A, Rubio Viguera, V

“…To describe the clinical, radiological and genetic findings of a family affected by Currarino syndrome (CS) (agenesis of the sacrum, presacral mass, and…”
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An ataxia of not so obvious cause by García-Oguiza, A, Domínguez-Garrido, E, Toledo-Gotor, C, Garcia-Muro, C, Lopez, M, Olloqui-Escalona, A, Riaño-Mendez, B, Esteban-Díez, I, Sanchez-Puentes, J.M, Saenz-Moreno, I, Jimenez-Escobar, V

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Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes by Garcia-Pelaez, J, Barbosa-Matos, R, Lobo, S, Dias, A, Garrido, L, Castedo, S, Sousa, SP, Pinheiro, H, Sousa, L, Monteiro, AR, Maqueda, J, Fernandes, S, Carneiro, F, Pinto, N, Lemos, C, Pinto, C, Teixeira, M, Aretz, S, Lagercrantz, SB, Balmana, J, Blatnik, A, Benusiglio, P, Blanluet, M, Bours, V, Brems, H, Brunet, J, Calistri, D, Capella, G, Revilla, SC, Colas, C, Dahan, K, de Putter, R, Desseignes, C, Dominguez-Garrido, E, Egas, C, Evans, G, Feret, D, Fewings, E, Fitzgerald, R, Coulet, F, Garcia-Barcina, M, Genuardi, M, Lisa, G, Hackmann, K, Hanson, H, Holinski-Feder, E, Huneburg, R, Krajc, M, Lagerstedt-Robinson, K, Lazaro, C, Ligtenberg, M, Bouzas, MCM, Merino, S, Michils, G, Novakovic, S, Patino, A, Ranzani, G, Schrock, E, Silva, I, Silveira, C, Soto, JL, Spier, I, Steinke-Lange, V, Tedaldi, G, Tejada, I, Woodward, E, Tischkowitz, M, Hoogerbrugge, N, Oliveira, C

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Radiological findings in Currarino syndrome by Pérez Vega-Leal, C, Sainz Gómez, C, Ubis Rodríguez, E, Garrido-Domínguez, E, Díez Fernández, A, Rubio Viguera, V

“…Abstract Objective To describe the clinical, radiological and genetic findings of a family affected by Currarino syndrome (CS) (agenesis of the sacrum,…”
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GENOTYPE-PHENOTYPE ASSOCIATIONS PROVIDE A RATIONAL TO IDENTIFY POTENTIALLY ACTIONABLE VUS by Pelaez, J, Monteiro, R, Lobo, S, Sousa, L, Pinheiro, H, Castedo, S, Garrido, L, Teixeira, M, Michils, G, Bours, V, de Putter, R, Golmard, L, Blanluet, M, Colas, C, Benusiglio, P, Desseignes, C, Florence, C, Aretz, S, Spier, I, Huneburg, R, Gieldon, L, Schrock, E, Holinski-Feder, E, Steinke, V, Calistri, D, Tedaldi, G, Ranzani, G, Genuardi, M, Silveira, C, Silva, I, Krajc, M, Blatnik, A, Novacovik, S, Patino-Garcia, A, Soto, JL, Lazaro, C, Capella, G, Brunet-Vidal, J, Balmana, J, Dominguez-Garrido, E, Ligtenberg, M, Fewings, E, Fitzgerald, R, Woodward, E, Evans, G, Hanson, H, Lagerstedt-Robinson, K, Bajalica-Lagercrantz, S, Egas, C, Tejada, MI, Dahan, K, Feret, D, Hoogerbrugge, N, Tischkowitz, M, Oliveira, C

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The first genotype-phenotype study on European carriers of CDH1 germline mutations by Garcia-Pelaez, J, Monteiro, R, Sousa, L, Pinheiro, H, Castedo, S, Garrido, L, Teixeira, M, Michils, G, Bours, V, de Putter, R, Golmard, L, Blanluet, M, Colas, C, Benusiglio, P, Aretz, S, Spier, I, Huneburg, R, Gieldon, L, Schrock, E, Holinski-Feder, E, Steinke, V, Calistri, D, Tedaldi, G, Ranzani, G, Genuardi, M, Silveira, C, Silva, I, Krajc, M, Blatnik, A, Novakovic, S, Patino-Garcia, A, Soto, J, Lazaro, C, Capella, G, Brunet-Vidal, J, Balmana, J, Dominguez-Garrido, E, Ligtenberg, M, Fewings, E, Fitzgerald, R, Woodward, E, Evans, G, Hanson, H, Lagerstedt-Robinson, K, Bajalica-Lagercrantz, S, Egas, C, Martinez-Bouzas, C, Dahan, K, Feret, D, Hoogerbrugge, N, Tischkowitz, M, Oliveira, C

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European Landscape of CDH1 germline mutations: a new tool to understand hereditary diffuse gastric cancer (HDGC) by Pelaez, JG, Monteiro, A, Sousa, L, Castedo, S, Garrido, L, Michils, G, Bours, V, de Putter, R, Golmard, L, Blanluet, M, Colas, C, Benusiglio, P, Aretz, S, Spier, I, Huneburg, R, Gieldon, L, Schrock, E, Holinski-Feder, E, Steinke, V, Calistri, D, Tedaldi, G, Nadia-Ranzani, G, Genuardi, M, Silveira, C, Krajc, M, Blatnik, A, Novakovic, S, Patino-Garcia, A, Soto, J, Lazaro, C, Capella, G, Brunet-Vidal, J, Balmana, J, Dominguez-Garrido, E, Ligtenberg, M, Fewings, E, Fitzgerald, R, Woodward, E, Evans, G, Hanson, H, Lagerstedt-Robinson, K, Bajalica-Lagercrantz, S, Teixeira, M, Hoogerbrugge, N, Tischkowitz, M, Oliveira, C

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Aicardi-Goutieres syndrome: a family case due to alteration of the RNASEH2B gene by Viguera-Elías, D, de la Iglesia-Nagore, I, Toledo-Gotor, C, Domínguez-Garrido, E, Poch-Olivé, M L

“…Aicardi-Goutieres syndrome is a progressive encephalopathy with onset in the first year of life that conditions psychomotor retardation, microcephaly and…”
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Gravedad de COVID-19 atribuible a obesidad según IMC y CUN-BAE by Fernández Crespo, S., Pérez-Matute, P., Íñiguez Martínez, M., Fernández-Villa, T., Domínguez-Garrido, E., Oteo, J.A., Marcos-Delgado, A., Flores, C., Riancho, J.A., Rojas-Martínez, A., Lapunzina, P., Carracedo, Á.

“…La obesidad es considerada un factor de riesgo en casos graves de la COVID-19, habiendo sido analizada mediante el índice de masa corporal (IMC), estimador que…”
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