Non-mosaic trisomy 20 of paternal origin in chorionic villus and amniotic fluid also detected in fetal blood and other tissues
Morales, Carme, Cuatrecasas, Esther, Mademont-Soler, Irene, Clusellas, Núria, Peruga, Emma, Català, Vicenç, Garrido, Carles, Milà, Montserrat, Soler, Anna, Sánchez, Aurora
Published in European journal of medical genetics (01.07.2010)
Published in European journal of medical genetics (01.07.2010)
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Classic rett syndrome in a boy as a result of somatic mosaicism for a mecp2 mutation
Armstrong, Judith, Póo, Pilar, Pineda, Mercè, Aibar, Elena, Geán, Esther, Català, Vicenç, Monrós, Eugènia
Published in Annals of neurology (01.11.2001)
Published in Annals of neurology (01.11.2001)
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Pascual‐Alonso, Ainhoa, Blasco, Laura, Vidal, Silvia, Gean, Esther, Rubio, Patricia, O'Callaghan, Mar, Martínez‐Monseny, Antonio F., Castells, Alba Aina, Xiol, Clara, Català, Vicenç, Brandi, Nuria, Pacheco, Paola, Ros, Carlota, del Campo, Miguel, Guillén, Encarna, Ibañez, Salva, Sánchez, María J., Lapunzina, Pablo, Nevado, Julián, Santos, Fernando, Lloveras, Elisabet, Ortigoza‐Escobar, Juan D., Tejada, María I., Maortua, Hiart, Martínez, Francisco, Orellana, Carmen, Roselló, Mónica, Mesas, María A., Obón, María, Plaja, Alberto, Fernández‐Ramos, Joaquín A., Tizzano, Eduardo, Marín, Rosario, Peña‐Segura, José L., Alcántara, Soledad, Armstrong, Judith
Published in Clinical genetics (01.04.2020)
Published in Clinical genetics (01.04.2020)
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A 11.7-Mb Paracentric Inversion in Chromosome 1q Detected in Prenatal Diagnosis Associated with Familial Intellectual Disability
Rigola, Maria A., Baena, Neus, Català, Vicenç, Lozano, Iris, Gabau, Elisabet, Guitart, Miriam, Fuster, Carmen
Published in Cytogenetic and genome research (01.01.2015)
Published in Cytogenetic and genome research (01.01.2015)
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Phylloid hypomelanosis and mosaic partial trisomy 13: two cases that provide further evidence of a distinct clinicogenetic entity
González-Enseñat, M Antonia, Vicente, Asunción, Poo, Pilar, Catalá, Vicenç, Mar Pérez-Iribarne, M, Fuster, Carme, Geán, Esther, Happle, Rudolf
Published in Archives of dermatology (1960) (01.05.2009)
Published in Archives of dermatology (1960) (01.05.2009)
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Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration
Plaja, Alberto, Lloveras, Elisabet, Martinez-Bouzas, Cristina, Barreña, Beatriz, Campo, Miguel Del, Fernández, Asunción, Herrero, Marta, Barranco, Laura, Palau, Nuria, López-Aríztegui, M. Asunción, Català, Vicenç, Tejada, Maria-Isabel
Published in American journal of medical genetics. Part A (01.09.2013)
Published in American journal of medical genetics. Part A (01.09.2013)
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Armstrong, Judith, Póo, Pilar, Pineda, Mercè, Aibar, Elena, Geán, Esther, Català, Vicenç, Monrós, Eugènia
Published in Annals of neurology (01.11.2001)
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Published in Annals of neurology (01.11.2001)
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Molecular characterization of Spanish patients with MECP2 duplication syndrome
Pascual‐Alonso, Ainhoa, Blasco, Laura, Vidal, Silvia, Gean, Esther, Rubio, Patricia, O'Callaghan, Mar, Martínez‐Monseny, Antonio F., Castells, Alba Aina, Xiol, Clara, Català, Vicenç, Brandi, Nuria, Pacheco, Paola, Ros, Carlota, Campo, Miguel, Guillén, Encarna, Ibañez, Salva, Sánchez, María J., Lapunzina, Pablo, Nevado, Julián, Santos, Fernando, Lloveras, Elisabet, Ortigoza‐Escobar, Juan D., Tejada, María I., Maortua, Hiart, Martínez, Francisco, Orellana, Carmen, Roselló, Mónica, Mesas, María A., Obón, María, Plaja, Alberto, Fernández‐Ramos, Joaquín A., Tizzano, Eduardo, Marín, Rosario, Peña‐Segura, José L., Alcántara, Soledad, Armstrong, Judith
Published in Clinical genetics (01.04.2020)
Published in Clinical genetics (01.04.2020)
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Armstrong, Judith, Póo, Pilar, Pineda, Mercè, Aibar, Elena, Geán, Esther, Català, V, Vicenç, Monrós, Eugènia
Published in Annals of neurology (01.11.2001)
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Published in Annals of neurology (01.11.2001)
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