NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases von 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.

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Azathioprine hypersensitivity syndrome: report of two cases with cutaneous manifestations von Moya‐Martínez, C., Núñez‐Hipólito, L., Barrio‐González, S., Santonja, C., Jo‐Velasco, M., Lorda‐Sánchez, I., Fariña‐Sabaris, M. C., Requena, L.

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A small and active ring x chromosome in a female with features of Kabuki syndrome von Rodríguez, L., Diego‐Alvarez, D., Lorda‐Sanchez, I., Gallardo, F.L., Martínez‐Fernández, M.L., Arroyo‐Muñoz, M.E., Martínez‐Frías, M.L.

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Five years’ experience of the clinical exome sequencing in a Spanish single center von 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.

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Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience: Prenatal diagnosis in FGFR3 gene von Trujillo-Tiebas, M. J., Fenollar-Cortés, M., Lorda-Sánchez, I., Díaz-Recasens, J., Carrillo Redondo, A., Ramos-Corrales, C., Ayuso, C.

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Prenatal diagnosis of 46, XX male fetus von Trujillo-Tiebas, M J, González-González, C, Lorda-Sánchez, I, Querejeta, M E, Ayuso, C, Ramos, C

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Gene symbol: EPM2A von Trujillo-Tiebas, Maria J, Gómez-Garré, P, Fenolla-Cortés, M, Lorda-Sánchez, I, Serratosa, J M, Ayuso, C

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Prenatal diagnosis on fetal cells from maternal blood: practical comparative evaluation of the first and second trimesters von 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.

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Increased parental age and number of pregnancies in Klippel–Trenaunay–Weber syndrome von LORDA-SANCHEZ, I., PRIETO, L., RODRIGUEZ-PINILLA, E., MARTINEZ-FRÍ AS, M. L.

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Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma von 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.

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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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Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation von Rodríguez de Alba, M., Sanz, R., Lorda-Sanchez, I., Fernández-Moya, J. M., Ayuso, C., Díaz-Recasens, J., Ramos, C.

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Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR von González-González, M. C., Trujillo, M. J., Rodríguez de Alba, M., García-Hoyos, M., Lorda-Sánchez, I., Díaz-Recasens, J., Ayuso, C., Ramos, C.

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Rapid identification of a small dicentric supernumerary marker derived from chromosome 16 with a modified FISH technique on amniotic fluid von Sanz, R., Anabitarte, M. A., Querejeta, M. E., Lorda-Sanchez, I., Ibañez, M. A., Rodríguez de Alba, M., Ayuso, C., Ramos, C.

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Molecular studies of chromosomal mosaicism : relative frequency of chromosome gain or loss and possible role of cell selection von ROBINSON, W. P, BINKERT, F, BERNASCONI, F, LORDA-SANCHEZ, I, WERDER, E. A, SCHINZEL, A. A

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Increased Parental Ages and Uniparental Disomy 15: A Paternal Age Effect? von Robinson, W.P., Lorda-Sanchez, I., Malcolm, S., Langlois, S., Schuffenhauer, S., Knoblauch, H., Horsthemke, B., Schinzel, A.A.

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Does Bardet-Biedl syndrome have a characteristic face? von Lorda-Sanchez, Isabel, Ayuso, Carmen, Sanz, Raul, Ibañez, Angeles

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What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis von Pereda, Arrate, Garin, Intza, Perez de Nanclares, Guiomar

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Gene symbol: CFTR. Disease: Cystic fibrosis von Trujillo-Tiebas, M J, Gallego, J, García, M, Lorda-Sanchez, I, Ramos, C, Ayuso, C

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Two Non-Contiguous Duplications in the DMD Gene in a Spanish Family von Fenollar-Cortés, M., Gallego-Merlo, J., Trujillo-Tiebas, M.J., Lorda-Sánchez, I., Ayuso, C.

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