People / Staff

Gemma Marfany Nadal

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Publications

  • Abad V, Domènech EB, Garanto A and Marfany G.

    mRNA expression analysis of the SUMO pathway genes in the adult mouse retina.

    BIOLOGY OPEN . 4(2): 224-232. Number of citations: 6

    [doi:10.1242/bio.201410645]

  • De-Castro M, Pomares E, Lorés-Motta L, Tonda R, Dopazo J, Marfany G and Gonzalez R.

    Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

    PLoS One . 9(2): . Number of citations: 31

    [doi:10.1371/journal.pone.0088410]

  • Garanto A, Mandal NA, Egido-Gabás M, Marfany G, Fabriàs G, Anderson RE, Casas J and Gonzalez R.

    Specific sphingolipid content decrease in Cerkl knockdown mouse retinas.

    EXPERIMENTAL EYE RESEARCH . 110: 96-106. Number of citations: 40

    [doi:10.1016/j.exer.2013.03.003]

  • Garanto A, Vicente-Tejedor J, Riera M, de la Villa P, Gonzalez R, Blanco R and Marfany G.

    Targeted knockdown of Cerkl, a retinal dystrophy gene, causes mild affectation of the retinal ganglion cell layer.

    BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS . 1822(8): 1258-1269. Number of citations: 26

    [doi:10.1016/j.bbadis.2012.04.004]

  • Pomares E, Marfany G and Gonzalez R.

    High-throughput approaches for the genetic diagnosis of retinal dystrophies.

    Advances in Experimental Medicine and Biology . 723: 329-335. Number of citations: 1

    [doi:10.1007/978-1-4614-0631-0_43]

  • Garanto A, Riera M, Pomares E, Permanyer J, De-Castro M, Sava F, Abril JF, Marfany G and Gonzalez R.

    High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse.

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE . 52(8): 5202-5214. Number of citations: 27

    [doi:10.1167/iovs.10-7101]

  • Permanyer J, Navarro R, Friedman J, Pomares E, Castro-Navarro J, Marfany G, Swaroop A and Gonzalez R.

    Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1.

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE . 51(5): 2656-2663. Number of citations: 59

    [doi:10.1167/iovs.09-4857]

  • Pomares E, Riera M, Permanyer J, Méndez P, Castro-Navarro J, Andrés-Gutiérrez A, Marfany G and Gonzalez R.

    Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.

    EUROPEAN JOURNAL OF HUMAN GENETICS . 18(1): 118-124. Number of citations: 20

    [doi:10.1038/ejhg.2009.114]

  • Pomares E, Riera M, Castro-Navarro J, Andrés-Gutiérrez A, Gonzalez R and Marfany G.

    Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa.

    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE . 50(11): 5107-5114. Number of citations: 18

    [doi:10.1167/iovs.08-3208]

  • Denuc A, Bosch-Comas A, Gonzalez R and Marfany G.

    The UBA-UIM domains of the USP25 regulate the enzyme ubiquitination state and modulate substrate recognition.

    PLoS One . 4(5): . Number of citations: 58

    [doi:10.1371/journal.pone.0005571]