Browsing by Author "Solé Ristol, Francesc"

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  • Caracterización de reordenamientos cromosómicos asociados a fenotipo
    Villa Marcos, Olaya (Universitat Pompeu Fabra, 2009-10-27)
    El establecimiento de correlaciones entre fenotipo y genotipo es uno de los principales objetivos de la genética. La obtención de un diagnóstico ajustado facilita el manejo clínico del paciente, así como poder ofrecer un ...
  • Correlation of myelodysplastic syndromes with i(17)(q10) and TP53 and SETBP1 mutations.
    Ademá, Vera; Solé Ristol, Francesc; Arenillas Rocha, Leonor (Wiley, 2015)
    Letter to the Editor
  • FISH and immunohistochemical status of the hepatocyte growth factor receptor (c-Met) in 184 invasive breast tumors.
    Carracedo, Alma; Egervari, Kristof; Salido, Marta; Rojo, Federico; Arumí, Montserrat; Corominas Torres, Josep Maria; Corzo, Cristina; Tusquets Trias de Bes, Ignacio; Espinet Solà, Blanca; Rovira Guerín, Ana; Albanell Mestres, Joan; Szollosi, Zoltan; Serrano Figueras, Sergi; Solé Ristol, Francesc (BioMed Central, 2009)
  • Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q
    Ademá, Veraor; Palomo, Laura; Walter, Wencke; Mallo, Mar; Hutter, Stephan; La Framboise, Thomas; Arenillas Rocha, Leonor; Meggendorfer, Manja; Radivoyevitch, Tomas; Xicoy, Blanca; Pellagatti, Andrea; Haferlach, Claudia; Boultwood, Jacqueline; Kern, Wolfgang; Visconte, Valeria; Sekeres, Mikkael; Barnard, John; Haferlach, Torsten; Solé Ristol, Francesc; Maciejewski, Jaroslaw P. (Elsevier, 2022)
    Background: haploinsufficiency (HI) resulting from deletion of the long arm of chromosome 5 [del(5q)] and the accompanied loss of heterozygosity are likely key pathogenic factors in del(5q) myeloid neoplasia (MN) although ...
  • Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not?
    Saumell, Silvia; Solé Ristol, Francesc; Arenillas Rocha, Leonor; Montoro, Julia; Valcárcel, David; Pedro Olive, Carme; Sanzo, Carmen; Luño, Elisa; Giménez, Teresa; Arnan, Montserrat; Pomares, Helena; De Paz, Raquel; Arrizabalaga, Beatriz; Jerez, Andrés; Martínez, Ana B.; Sánchez-Castro, Judith; Rodríguez-Gambarte, Juan D.; Raya, José M.; Ríos, Eduardo; Rodríguez-Rivera, María; Espinet Solà, Blanca; Florensa Brichs, Lourdes (Public Library of Science, 2015)
    Isolated trisomy 8 is not considered presumptive evidence of myelodysplastic syndrome (MDS) in cases without minimal morphological criteria. One reason given is that trisomy 8 (+8) can be found as a constitutional mosaicism ...