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Neurogenètica i Medicina Molecular

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Publicacions

  • Calpena, E., Palau F, Espinós, C. and Galindo, M.I..

    Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species

    PLoS One . 10(7): . Nº de cites: 18

    [doi:10.1371/journal.pone.0134106]

  • Berrueco R, Alonso-Saladrigues A, Martorell-Sampol L, Català-Temprano A, Ruiz-Llobet A, Toll T, Torrebadell-Burriel M, Naudo-Lahoz M, Camós-Guijosa M and Rives-Solà S.

    Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and Gilbert syndrome. Usefulness of UGT1A1 mutational screening

    PEDIATRIC BLOOD & CANCER . 62(7): 1195-1201. Nº de cites: 8

    [doi:10.1002/pbc.25457]

  • Nissenkorn A, Levy-Drummer RS, Bondi O, Renieri A, Villard L, Mari F, Mencarelli MA, Lo Rizzo C, Meloni I, Pineda M, Armstrong-Moron J, Clarke A, Bahi-Buisson N, Mejaski BV, Djuric M, Craiu D, Djukic A, Pini G, Bisgaard AM, Melegh B, Vignoli A, Russo S, Anghelescu C, Veneselli E, Hayek J and Ben-Zeev B.

    Epilepsy in Rett syndrome-Lessons from the Rett networked database

    Epilepsia . 56(4): 569-576. Nº de cites: 42

    [doi:10.1111/epi.12941]

  • Brito S, Thompson K, Campistol-Plana J, Colomer J, Hardy S, Langping H, Fernández-Marmiesse A, Palacios L, Jou-Munoz C, Jimenez-Mallebrera C, Armstrong-Moron J, Montero-Sanchez R, Artuch-Iriberri R, Tischner C, Wenz T, McFarland R and Taylor R.

    Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

    Frontiers in Genetics . 6: 102-102. Nº de cites: 20

    [doi:10.3389/fgene.2015.00102]

  • Piard, J., Aral, B., Vabres, P., Holder-Espinasse, M., Megarbane, A., Gauthier, S., Capra, V., Pierquin, G., Callier, P., Baumann, C., Pasquier, L., Baujat, G., Martorell-Sampol L, Rodriguez, A., Brady, A. F., Boralevi, F., González-Enseñat MA, Rio, M., Bodemer, C., Philip, N., Cordier, M. P., Goldenberg, A., Demeer, B., Wright, M., Blair, E., Puzenat, E., Parent, P., Sznajer, Y., Francannet, C., DiDonato, N., Boute, O., Barlogis, V., Moldovan, O., Bessis, D., Coubes, C., Tardieu, M., Cormier-Daire, V., Sousa, A. B., Franques, J., Toutain, A., Tajir, M., Elalaoui, S. C., Genevieve, D., Thevenon, J., Courcet, J. B., Riviere, J. B., Collet, C., Gigot, N., Faivre, L. and Thauvin-Robinet, C..

    Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

    CLINICAL GENETICS . 87(3): 244-251. Nº de cites: 19

    [doi:10.1111/cge.12361]

  • Natera-de Benito D, Fons-Estupina C, Ulate-Campos A, Martorell-Sampol L and Poo P.

    Clinical and genomic characterization of two patients with a duplication of 9q34: comparison and review of the literature

    CLINICAL DYSMORPHOLOGY . 24(1): 38-43. Nº de cites: 2

    [doi:10.1097/MCD.0000000000000064]

  • Roca I, González-Castro L, Maynou-Fernández J, Palacios L, Fernández H, Couce ML and Fernández-Marmiesse A.

    PattRec: An easy-to-use CNV detection tool optimized for targeted NGS assays with diagnostic purposes.

    Genomics . : . Nº de cites: 8

    [doi:10.1016/j.ygeno.2019.07.011]

  • Trujillano L, Valenzuela I, Costa-Roger M, Cuscó I, Fernandez-Alvarez P, Cueto-González A, Lasa-Aranzasti A, Masotto B, Abulí A, Codina-Solà M, Del Campo M, Ruiz Moreno JA, Pardo Domínguez C, Palma Milla C, Pérez de la Fuente R, Quesada-Espinosa JF, Núñez-Enamorado N, Gener B, Ballesta-Martínez MJ, Brea-Fernández AJ, Fernández-Prieto M, Trujillo-Quintero JP, Ruiz A, Santos-Simarro F, Rosello M, Orellana C, Martinez F, Martinez-Monseny T, Casas-Alba D, Serrano M, Palomares-Bralo M, Rikeros-Orozco E, Gómez-Cano MÁ, Tirado-Requero P, Pié Juste J, Ramos FJ, García-Arumí E and Tizzano E.

    Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

    CLINICAL GENETICS . : .

    [doi:10.1111/cge.14701]

  • Vicente-Garces C, Fernandez-Isern G, Esperanza-Cebollada E, Richarte M, Crespo-Carrasco A, Montesdeoca S, Isola I, Sarrate E, Cuatrecasas E, Rives-Solà S, Dapena JL, Camós-Guijosa M and Vega-García N.

    RNA-sequencing: A reliable tool to unveil transcriptional landscape of paediatric B-other acute lymphoblastic leukaemia.

    BRITISH JOURNAL OF HAEMATOLOGY . : .

    [doi:10.1111/bjh.20056]

  • Marina Caballero Bellón, Santa-María López V, Marti-Sanchez L, Martorell-Sampol L, Salinas D, Hinojosa J, Becerra MV, Pavon-Mengual M, Morales-La Madrid A, Cruz-Martínez O, Muchart-Lopez J and Salvador-Hernandez H.

    Very early-onset symptomatic CNS haemangioblastoma in Von Hippel-Lindau disease.

    JOURNAL OF MEDICAL GENETICS . : .

    [doi:10.1136/jmg-2024-110477]