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22/08/2022 Development and validation of a nomogram to predict kidney survival at baseline in patients with C3 glomerulopathy
Caravaca-Fontan, F, Rivero, M, Cavero, T, Diaz-Encarnacion, M, Cabello, V, Ariceta, G, Quintana, LF, Marco, H, Barros, X, Ramos, N, Rodriguez-Mendiola, N, Cruz, S, Fernandez-Juarez, G, Rodriguez, A, de Jose, AP, Rabasco, C, Rodado, R, Fernandez, L, Perez-Gomez, V, Avila, A, Bravo, L, Espinosa, N, Allende, N, de la Nieta, MDS, Rodriguez, E, Olea, T, Melgosa, M, Huerta, A, Miquel, R, Mon, C, Fraga, G, de Lorenzo, A, Draibe, J, Gonzalez, F, Shabaka, A, Lopez-Rubio, ME, Fenollosa, MA, Martin-Penagos, L, Da Silva, I, Titos, JA, de Cordoba, SR, de Jorge, EG, Praga, M. Development and validation of a nomogram to predict kidney survival at baseline in patients with C3 glomerulopathy. Clinical Kidney Journal. 2022; 15(9)DOI:10.1093/ckj/sfac108. PMID:36003665. IF:4.600(Q1/2D).
01/08/2022 Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G > C Variant in SMN2
Blasco-Perez, L, Costa-Roger, M, Leno-Colorado, J, Bernal, S, Alias, L, Codina-Sola, M, Martinez-Cruz, D, Castiglioni, C, Bertini, E, Travaglini, L, Millan, JM, Aller, E, Sotoca, J, Juntas, R, Hoei-Hansen, CE, Moreno-Escribano, A, Guillen-Navarro, E, Costa-Comellas, L, Munell, F, Boronat, S, Rojas-Garcia, R, Povedano, M, Cusco, I, Tizzano, EF. Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G > C Variant in SMN2. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022; 23(15)DOI:10.3390/ijms23158289. PMID:35955418. IF:5.600(Q1/3D).
01/07/2022 Consensus document on autosomal dominant polycystic kindey disease from the Spanish Working Group on Inherited Kindey Diseases. Review 2020
Ars, E, Bernis, C, Fraga, G, Furlano, M, Martinez, V, Martins, J, Ortiz, A, Perez-Gomez, MV, Rodriguez-Perez, JC, Sans, L, Torra, R. Consensus document on autosomal dominant polycystic kindey disease from the Spanish Working Group on Inherited Kindey Diseases. Review 2020. NEFROLOGIA. 2022; 42(4)DOI:10.1016/j.nefro.2021.05.009. PMID:36404270. IF:2.600(Q3/6D).
23/06/2022 Longitudinal change in proteinuria and kidney outcomes in C3 glomerulopathy
Caravaca-Fontan, F, Diaz-Encarnacion, M, Cabello, V, Ariceta, G, Quintana, LF, Marco, H, Barros, X, Ramos, N, Rodriguez-Mendiola, N, Cruz, S, Fernandez-Juarez, G, Rodriguez, A, de Jose, AP, Rabasco, C, Rodado, R, Fernandez, L, Gomez, VP, Avila, A, Bravo, L, Espinosa, N, Allende, N, de la Nieta, MDS, Rodriguez, E, Olea, T, Melgosa, M, Huerta, A, Miquel, R, Mon, C, Fraga, G, de Lorenzo, A, Draibe, J, Cano-Megias, M, Gonzalez, F, Shabaka, A, Lopez-Rubio, ME, Fenollosa, MA, Martin-Penagos, L, Da Silva, I, Titos, JA, de Cordoba, SR, de Jorge, EG, Praga, M. Longitudinal change in proteinuria and kidney outcomes in C3 glomerulopathy. NEPHROLOGY DIALYSIS TRANSPLANTATION. 2022; 37(7)DOI:10.1093/ndt/gfab075. PMID:33779754. IF:6.100(Q1/2D).
01/05/2022 Hematopoietic cell transplantation in severe combined immunodeficiency: The SCETIDE 2006-2014 European cohort
Lankester A.C., Neven B., Mahlaoui N., von Asmuth E.G.J., Courteille V., Alligon M., Albert M.H., Serra I.B., Bader P., Balashov D., Beier R., Bertrand Y., Blanche S., Bordon V., Bredius R.G., Cant A., Cavazzana M., Diaz-de-Heredia C., Dogu F., Ehlert K., Entz-Werle N., Fasth A., Ferrua F., Ferster A., Formankova R., Friedrich W., Gonzalez-Vicent M., Gozdzik J., Güngör T., Hoenig M., Ikinciogullari A., Kalwak K., Kansoy S., Kupesiz A., Lanfranchi A., Lindemans C.A., Meisel R., Michel G., Miranda N.A.A., Moraleda J., Moshous D., Pichler H., Rao K., Sedlacek P., Slatter M., Soncini E., Speckmann C., Sundin M., Toren A., Vettenranta K., Worth A., Yesilipek M.A., Zecca M., Porta F., Schulz A., Veys P., Fischer A., Gennery A.R.. Hematopoietic cell transplantation in severe combined immunodeficiency: The SCETIDE 2006-2014 European cohort. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2022; 149(5)DOI:10.1016/j.jaci.2021.10.017. PMID:34718043. IF:14.200(Q1/1D).
01/05/2022 Parvovirus B19 myocarditis in children: a diagnostic and therapeutic approach
Esmel-Vilomara, R, Dolader, P, Izquierdo-Blasco, J, Balcells, J, Sorli, M, Escudero, F, Vera, E, Gran, F. Parvovirus B19 myocarditis in children: a diagnostic and therapeutic approach. EUROPEAN JOURNAL OF PEDIATRICS. 2022; 181(5)DOI:10.1007/s00431-022-04406-x. PMID:35138467. IF:3.600(Q1/2D).
01/05/2022 Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
Bullich G., Matalonga L., Pujadas M., Papakonstantinou A., Piscia D., Tonda R., Artuch R., Gallano P., Garrabou G., González J.R., Grinberg D., Guitart M., Laurie S., Lázaro C., Luengo C., Martí R., Milà M., Ovelleiro D., Parra G., Pujol A., Tizzano E., Macaya A., Palau F., Ribes A., Pérez-Jurado L.A., Beltran S., Schlüter A., Rodriguez-Palmero A., Cáceres A., Nascimento A., García-Cazorla À., Cueto-González A., Marcé-Grau A., Nel.lo A.R., Martínez-Monseny A., Sànchez A., García B., Pérez-Dueñas B., Gel B., Fusté B., Hernández-Ferrer C., Casasnovas C., Ortez C., Arjona C., Hernando-Davalillo C., de Benito D.N., Amador D.P., Gómez-Andrés D., Yubero D., Pelegrí-Sisó D., Verdura E., García-Arumí E., Castellanos E., Gabau E., Tobías E., López-Grondona F., Cardellach F., Garcia-Garcia F.J., Munell F., Tort F., Aznar G., Olivé-Cirera G., Tell G., Muñoz-Pujol G., Paramonov I., Blanco I., Madrigal I., Valenzuela I., Gut I., Cusco I., Trotta J.-R., Cruz J., Díaz-Manera J., Milisenda J.C., Ma Grau J., Garcia-Villoria J., Armstrong J., Cantó J., Sala-Coromina J., Rodríguez-Revenga L., Alias L., Gort L., González-Quereda L., Costa M., Fernández-Callejo M., López-Sánchez M., Álvarez-Mora M.I., Gut M., Serrano M., Raspall-Chaure M., Toro M.D., Bayés M., Díez N.B., Spataro N., Capdevila N., Ugarteburu O., Muñoz-Cabello P., Duque P.R., Rabionet R., Rojas-García R., Calvo R., Urreizti R., Bernal S., Boronat S., Balcells S., Vendrell T.. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases. JOURNAL OF MOLECULAR DIAGNOSTICS. 2022; 24(5)DOI:10.1016/j.jmoldx.2022.02.003. PMID:35569879. IF:4.100(Q2/3D).
01/04/2022 Experience of the Spanish Group for Hematopoietic Transplantation (GETMON-GETH) in allogenic hematopoietic stem cell transplantation in Philadelphia acute lymphoblastic leukemia
Galán Gómez V., de la Fuente Regaño L., Rodríguez Villa A., Díaz de Heredia Rubio C., González Vicent M., Badell Serra I., Fernández J.M., Pascual Martínez A.I., Pérez Hurtado J.M., López Duarte M., Maldonado Regalado M.S., Pérez-Martínez A.. Experience of the Spanish Group for Hematopoietic Transplantation (GETMON-GETH) in allogenic hematopoietic stem cell transplantation in Philadelphia acute lymphoblastic leukemia. ANALES DE PEDIATRIA. 2022; 96(4)DOI:10.1016/j.anpedi.2021.02.015. PMID:33781716. IF:2.100(Q3/6D).