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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Could a patient with SMC1A duplication be classified as a human cohesinopathy?
Baquero-Montoya, C., Gil-Rodríguez, M.C., Teresa-Rodrigo, M.E., Hernández-Marcos, M., Bueno-Lozano, G., Bueno-Martínez, I., Remeseiro, S., Fernández-Hernández, R., Bassecourt-Serra, M., Rodríguez de Alba, M., Queralt, E., Losada, A., Puisac, B., Ramos, F.J., Pié, J.
Published in Clinical genetics (01.05.2014)
Published in Clinical genetics (01.05.2014)
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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
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.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.05.2008)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.05.2008)
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OC05.10: Genetic results in nuchal translucency above the 99th percentile
Navidad, M. Álvaro, Martínez, A. Delgado, De Alba, M. Rodriguez, Ramos, M. Ruiz, Flores, A. Mayas, Echarte, R. Senosiain, Arranz, J. Plaza
Published in Ultrasound in obstetrics & gynecology (01.10.2021)
Published in Ultrasound in obstetrics & gynecology (01.10.2021)
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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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Dicentric inverted duplication of entire 4p arm with no apparent deletion and internal placing of the (-TTAGGG-)n sequence: Description of the first patient
RODRIGUEZ, L, MARTINEZ-FERNANDEZ, M. L, ACENA, M. I, LOPEZ MENDOZA, S, MARTIN FUMERO, L, RODRIGUEZ DE ALBA, M, GALLEGO-MERLO, J, MARTINEZ-FRIAS, M. L
Published in American journal of medical genetics. Part A (01.05.2009)
Published in American journal of medical genetics. Part A (01.05.2009)
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Early Huntington disease prenatal diagnosis by maternal semiquantitative fluorescent-PCR
González-González, M C, Trujillo, M J, Rodríguez de Alba, M, Ramos, C
Published in Neurology (08.04.2003)
Published in Neurology (08.04.2003)
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Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study
Bustamante-Aragones, A., Trujillo-Tiebas, M. J., Gallego-Merlo, J., Rodriguez de Alba, M., Gonzalez-Gonzalez, C., Cantalapiedra, D., Ayuso, C., Ramos, C.
Published in European journal of neurology (01.12.2008)
Published in European journal of neurology (01.12.2008)
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Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease
González-González, M. Cristina, Garcia-Hoyos, Maria, Trujillo-Tiebas, M. Jose, Bustamante Aragonés, A., Rodriguez de Alba, M., Alvarez, D. Diego, Diaz-Recasens, Joaquín, Ayuso, Carmen, Ramos, Carmen
Published in Journal of assisted reproduction and genetics (01.09.2008)
Published in Journal of assisted reproduction and genetics (01.09.2008)
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Journal Article
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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Journal Article
56. A NEW AGE IN PGT-M: A DECADE´S EXPERIENCE AND NEW CHALLENGES TO DEAL WITH
Bustamante-Aragones, A., Gallego-Merlo, J., Lorda-Sanchez, I., Rodriguez De Alba, M., Avila-Fernandez, A., Arteche-Lopez, A., Velez-Monsalve, C., Hernandez-Rodriguez, C., Rodriguez, L., Linares, C., Gago, M., Galan, I., Acebedo-Martin, B., Ayuso, C., Trujillo Tiebas, M.J.
Published in Reproductive biomedicine online (01.08.2019)
Published in Reproductive biomedicine online (01.08.2019)
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Prenatal diagnosis on fetal cells obtained from maternal peripheral blood: Report of 66 cases
Rodríguez de Alba, M., Palomino, P., Jurado, A., Sanz, R., Ibañez, M. A., Fernández-Moya, J. M., Ayuso, C., Díaz-Recasens, J., Lahoz, C., Ramos, C.
Published in Prenatal diagnosis (01.10.1999)
Published in Prenatal diagnosis (01.10.1999)
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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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Identification of two rare variants (G-->A at nucleotide 721; C-->T at nucleotide 5200) in the rhodopsin gene. Mutations in brief no. 187. Online
Trujillo, M J, Millán, J M, Nájera, C, Beneyto, M, García-Sandoval, B, Rodriguez de Alba, M, Sanz, R, Ayuso, C
Published in Human mutation (1998)
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Published in Human mutation (1998)
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Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family
Trujillo, M.J., Garcia-Sandoval, B., Lorda-Sanchez, I., Gimenez, A., Sanz, R., Rodriguez de Alba, M., Gonzalez-Gonzalez, M.C., Iba ez, A., Ramos, C., Ayuso, C.
Published in Ophthalmic genetics (01.12.2000)
Published in Ophthalmic genetics (01.12.2000)
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Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadias
Lorda-Sanchez, I, Sanz, R, Diaz-Guillen, M A, Fernandez-Toral, J, Heine-Suñer, D, Rodriguez De Alba, M, Gonzalez-Gonzalez, C, Trujillo, M J, Ramos, C, Rodriguez De Cordoba, S, Ayuso, C
Published in Genetic counseling (2002)
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Published in Genetic counseling (2002)
Journal Article
Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family
Trujillo, M.J., Garcia-Sandoval, B., Lorda-Sanchez, I., Gimenez, A., Sanz, R., Rodriguez de Alba, M., Gonzalez-Gonzalez, M.C., Ibañez, A., Ramos, C., Ayuso, C.
Published in Ophthalmic genetics (01.01.2000)
Published in Ophthalmic genetics (01.01.2000)
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