Azathioprine hypersensitivity syndrome: report of two cases with cutaneous manifestations
Moya‐Martínez, C., Núñez‐Hipólito, L., Barrio‐González, S., Santonja, C., Jo‐Velasco, M., Lorda‐Sánchez, I., Fariña‐Sabaris, M. C., Requena, L.
Published in Clinical and experimental dermatology (01.08.2021)
Published in Clinical and experimental dermatology (01.08.2021)
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Five years' experience of the clinical exome sequencing in a Spanish single center
Arteche-López, A, Ávila-Fernández, A, Riveiro Álvarez, R, Almoguera, B, Bustamante Aragonés, A, Martin-Merida, I, López Martínez, M A, Giménez Pardo, A, Vélez-Monsalve, C, Gallego Merlo, J, García Vara, I, Blanco-Kelly, F, Tahsin Swafiri, S, Lorda Sánchez, I, Trujillo Tiebas, M J, Ayuso, C
Published in Scientific reports (10.11.2022)
Published in Scientific reports (10.11.2022)
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Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma
González-González, M. C., García-Hoyos, M., Trujillo, M.J., Rodríguez de Alba, M., Lorda-Sánchez, I., Díaz-Recasens, J., Gallardo, E., Ayuso, C., Ramos, C.
Published in Prenatal diagnosis (01.10.2002)
Published in Prenatal diagnosis (01.10.2002)
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NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases
Perea-Romero, I., Blanco-Kelly, F., Sanchez-Navarro, I., Lorda-Sanchez, I., Tahsin-Swafiri, S., Avila-Fernandez, A., Martin-Merida, I., Trujillo-Tiebas, M. J., Lopez-Rodriguez, R., Rodriguez de Alba, M., Iancu, I. F., Romero, R., Quinodoz, M., Hakonarson, H., Garcia-Sandova, Blanca, Minguez, P., Corton, M., Rivolta, C., Ayuso, C.
Published in Human genetics (01.12.2021)
Published in Human genetics (01.12.2021)
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Two Non-Contiguous Duplications in the DMD Gene in a Spanish Family
Fenollar-Cortés, M., Gallego-Merlo, J., Trujillo-Tiebas, M.J., Lorda-Sánchez, I., Ayuso, C.
Published in Journal of neurogenetics (01.01.2008)
Published in Journal of neurogenetics (01.01.2008)
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New approach for the refinement of the location of the X‐chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation
García‐Hoyos, M., Sanz, R., Diego‐Álvarez, D., Lorda‐Sánchez, I., Trujillo‐Tiebas, M.J., Cantalapiedra, D., Ramos, C., Ayuso, C.
Published in American journal of medical genetics. Part A (01.11.2005)
Published in American journal of medical genetics. Part A (01.11.2005)
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Guidelines for genetic study of aniridia
Blanco-Kelly, F, Villaverde-Montero, C, Lorda-Sánchez, I, Millán, J.M, Trujillo-Tiebas, M.J, Ayuso, C
Published in Archivos de la Sociedad Española de Oftalmología (English ed.) (01.04.2013)
Published in Archivos de la Sociedad Española de Oftalmología (English ed.) (01.04.2013)
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A small and active ring x chromosome in a female with features of Kabuki syndrome
Rodríguez, L., Diego‐Alvarez, D., Lorda‐Sanchez, I., Gallardo, F.L., Martínez‐Fernández, M.L., Arroyo‐Muñoz, M.E., Martínez‐Frías, M.L.
Published in American journal of medical genetics. Part A (01.11.2008)
Published in American journal of medical genetics. Part A (01.11.2008)
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Gene symbol: EPM2A
Trujillo-Tiebas, Maria J, Gómez-Garré, P, Pérez-González, N, Lorda-Sánchez, I, Serratosa, J M, Ayuso, C
Published in Human genetics (01.04.2007)
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Published in Human genetics (01.04.2007)
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Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience: Prenatal diagnosis in FGFR3 gene
Trujillo-Tiebas, M. J., Fenollar-Cortés, M., Lorda-Sánchez, I., Díaz-Recasens, J., Carrillo Redondo, A., Ramos-Corrales, C., Ayuso, C.
Published in Journal of assisted reproduction and genetics (01.08.2009)
Published in Journal of assisted reproduction and genetics (01.08.2009)
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Prenatal diagnosis of 46, XX male fetus
Trujillo-Tiebas, M J, González-González, C, Lorda-Sánchez, I, Querejeta, M E, Ayuso, C, Ramos, C
Published in Journal of assisted reproduction and genetics (01.05.2006)
Published in Journal of assisted reproduction and genetics (01.05.2006)
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Gene symbol: EPM2A
Trujillo-Tiebas, Maria J, Gómez-Garré, P, Fenolla-Cortés, M, Lorda-Sánchez, I, Serratosa, J M, Ayuso, C
Published in Human genetics (01.04.2007)
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Published in Human genetics (01.04.2007)
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Prenatal diagnosis on fetal cells from maternal blood: practical comparative evaluation of the first and second trimesters
Rodríguez de Alba, M., Palomino, P., González-González, C., Lorda-Sanchez, I., Ibañez, M. A., Sanz, R., Fernández-Moya, J. M., Ayuso, C., Díaz-Recasens, J., Ramos, C.
Published in Prenatal diagnosis (01.03.2001)
Published in Prenatal diagnosis (01.03.2001)
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Guía para el estudio genético de la aniridia
Blanco-Kelly, F, Villaverde-Montero, C, Lorda-Sánchez, I, Millán, J.M, Trujillo-Tiebas, M.J, Ayuso, C
Published in Archivos de la Sociedad Española de Oftalmología (01.04.2013)
Published in Archivos de la Sociedad Española de Oftalmología (01.04.2013)
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Increased parental age and number of pregnancies in Klippel–Trenaunay–Weber syndrome
LORDA-SANCHEZ, I., PRIETO, L., RODRIGUEZ-PINILLA, E., MARTINEZ-FRÍ AS, M. L.
Published in Annals of human genetics (01.05.1998)
Published in Annals of human genetics (01.05.1998)
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Inherited Retinal Dystrophies in Spain: three decades of epidemiological, clinical, and genetic study
Perea-Romero, I., Fernández-Caballero, L., Iancu, I.F., Rodilla, C., Martín-Mérida, I., Ávila-Fernández, A., Almoguera, B., Riveiro-Álvarez, R., Trujillo-Tiebas, M.J., Lorda-Sánchez, I., Tahsin-Swafiri, S., López-Grondona, F., Sánchez, A.I., Blanco-Kelly, F., Pozo-Valero, M., Mínguez, P., Millán, J.M., Martín-Gutiérrez, P., Jiménez-Rolando, B., Carreño, E., García-Sandoval, B., Cortón, M., Ayuso, C.
Published in Anales de la Real Academia Nacional de Medicina, Madrid (2023)
Published in Anales de la Real Academia Nacional de Medicina, Madrid (2023)
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Rapid identification of a small dicentric supernumerary marker derived from chromosome 16 with a modified FISH technique on amniotic fluid
Sanz, R., Anabitarte, M. A., Querejeta, M. E., Lorda-Sanchez, I., Ibañez, M. A., Rodríguez de Alba, M., Ayuso, C., Ramos, C.
Published in Prenatal diagnosis (01.01.2000)
Published in Prenatal diagnosis (01.01.2000)
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