Uso de recursos y gasto en servicios sanitarios de personas con enfermedades crónicas avanzadas en Cataluña von Bullich-Marín, Íngrid, Vela-Vallespín, Emili, Santaeugènia-González, Sebastià, Melendo-Azuela, Eva María

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mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review von Gordo, G., Tenorio, J., Arias, P., Santos‐Simarro, F., García‐Miñaur, S., Moreno, J.C., Nevado, J., Vallespin, E., Rodriguez‐Laguna, L., de Mena, R., Dapia, I., Palomares‐Bralo, M., del Pozo, Á., Ibañez, K., Silla, J.C., Barroso, E., Ruiz‐Pérez, V.L., Martinez‐Glez, V., Lapunzina, P.

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PLP1 gene analysis in 88 patients with leukodystrophy von Martínez-Montero, P, Muñoz-Calero, M, Vallespín, E, Campistol, J, Martorell, L, Ruiz-Falcó, MJ, Santana, A, Pons, R, Dinopoulos, A, Sierra, C, Nevado, J, Molano, J

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La secuenciación masiva (NGS) como método diagnóstico en la enfermedad de Stargardt von Jimenez-Rolando, B, Noval, S, Rosa-Perez, I, Mata Diaz, E, del Pozo, A, Ibañez, C, Silla, J.C, Montaño, V.E.F, Martin-Arenas, R, Vallespin, E

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Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants von Santos‐Simarro, F., Vallespin, E., Pozo, A., Ibañez, K., Silla, J.C., Fernandez, L., Nevado, J., González‐Pecellín, H., Montaño, V.E.F., Martin, R., Alba Valdivia, L.I., García‐Miñaúr, S., Lapunzina, P., Palomares‐Bralo, M.

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Prevalence and baseline clinico-pathological associations of germline deleterious mutations in DNA repair genes (gmDDR) in a metastatic castration resistant prostate cancer (mCRPC)... von Romero Laorden, N., Lozano Mejorada, R., Piulats Rodriguez, J.M., Vallespín, E., Montesa, A., Lorente Estelles, D., Villaguzmán, J.C., Grau, G., Rodriguez-Vida, A., Ibañez, K., Gonzalez-Billalabeitia, E., Magraner, L., Garde, J., Hernando Polo, S., Arranz Arija, J., Villatoro, R., Pérez Valderrama, B., Lapunzina, P., Castro Marcos, E., Olmos Hidalgo, D.

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Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease von Riveiro-Alvarez, R, Aguirre-Lamban, J, Lopez-Martinez, M Angel, Trujillo-Tiebas, M Jose, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Ramos, C, Ayuso, C

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Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers von BUSTAMANTE-ARAGONES, A., RODRIGUEZ DE ALBA, M., GONZALEZ-GONZALEZ, C., TRUJILLO-TIEBAS, M. J., DIEGO-ALVAREZ, D., VALLESPIN, E., PLAZA, J., AYUSO, C., RAMOS, C.

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Next generation sequencing in the diagnosis of Stargardt's disease von Jimenez-Rolando, B, Noval, S, Rosa-Perez, I, Mata Diaz, E, Del Pozo, A, Ibañez, C, Silla, J C, Montaño, V E F, Martin-Arenas, R, Vallespin, E

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Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants von Aguirre-Lamban, J, Riveiro-Alvarez, R, Maia-Lopes, S, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ramos, C, Ayuso, C

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Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray von Ávila-Fernández, Almudena, Cantalapiedra, Diego, Aller, Elena, Vallespín, Elena, Aguirre-Lambán, Jana, Blanco-Kelly, Fiona, Corton, M, Riveiro-Álvarez, Rosa, Allikmets, Rando, Trujillo-Tiebas, María José, Millán, José M, Cremers, Frans P M, Ayuso, Carmen

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Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis von Vallespin, E, Avila-Fernandez, A, Almoguera, B, Velez-Monsalve, C, Cantalapiedra, D, Garcia-Hoyos, M, Riveiro-Alvarez, R, Aguirre-Lamban, J, Bustamante-Aragones, A, Trujillo-Tiebas, M J, Ayuso, C

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Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease von Riveiro-Alvarez, R, Valverde, D, Lorda-Sanchez, I, Trujillo-Tiebas, M J, Cantalapiedra, D, Vallespin, E, Aguirre-Lamban, J, Ramos, C, Ayuso, C

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Novel human pathological mutations. Gene symbol: GUCY2D. Disease: Leber congenital amaurosis von Auz-Alexandre, Carmen-Laura, Vallespin, E, Aguirre-Lamban, J, Cantalapiedra, D, Avila-Fernandez, A, Villaverde-Montero, C, Ainse, E, Trujillo-Tiebas, M J, Ayuso, C

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Gene symbol: NDP. Disease: Norrie disease von Riveiro-Alvarez, Rosa, Cantalapiedra, D, Vallespin, E, Aguirre-Lamban, J, Avila-Fernandez, A, Gimenez, A, Trujillo-Tiebas, M J, Ayuso, C

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Living Donor Renal Transplantation in Catalonia: Overall Results and Comparison of Survival With Cadaveric Donor Renal Transplantation von García-Maset, R., Guirado Perich, L., Vela Vallespin, E., Clèries Escayola, M., Diaz Gómez, J.M., Solà Puigjaner, R.

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Gene symbol: ABCA4. Disease: Macular dystrophy von Aguirre-Lamban, Jana, Riveiro-Alvarez, R, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ayuso, C

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Gene symbol: ABCA4. Disease: Macular dystrophy von Aguirre-Lambán, Jana, Riveiro-Alvarez, R, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ayuso, C

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Gene symbol: RS1. Disease: Retinoschisis, X linked juvenile von Riveiro-Alvarez, Rosa, Gimenez, A, Trujillo-Tiebas, M J, Cantalapiedra, D, Vallespin, E, Aguirre-Lamban, J, Avila-Fernandez, A, Ayuso, C

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Gene symbol: ABCA4. Disease: Macular dystrophy von Aguirre-Lamban, Jana, Riveiro-Alvarez, R, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ayuso, C

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