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Genètica Molecular Humana I

Buscador de publicacions

Publicacions

  • Patiño-Salazar JD, Ovejero D, Gabernet M, Martinez-Gil N, Alcaide E, Mellibovsky L, Nogués X, Grinberg-Vaisman DR, Balcells S, Rabionet-Janssen R and Garcia-Giralt N.

    Identifying rare variants in genes related to bone phenotypes in a cohort of postmenopausal women

    OSTEOPOROSIS INTERNATIONAL . : .

    [doi:10.1007/s00198-025-07413-4]

  • Ovejero D, Garcia-Giralt N, Patiño-Salazar JD, Rabionet-Janssen R and Nogués X.

    Focal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signaling

    OSTEOPOROSIS INTERNATIONAL . : 555-559.

    [doi:10.1007/s00198-024-07382-0]

  • Samulenaite S, García-Blanco A, Mayneris-Perxachs J, Domingo-Rodríguez L, Cabana-Domínguez J, Fernandez-Castillo N, Gago-García E, Pineda L, Burokas A, Espinosa-Carrasco J, Arboleya S, Latorre J, Stanton C, Hosomi K, Kunisawa J, Cormand B, Fernández-Real JM, Maldonado R and Martín-García E.

    Gut microbiota signatures of vulnerability to food addiction in mice and humans

    Gut . 73(11): 1799-1815. Nº de cites: 9

    [doi:10.1136/gutjnl-2023-331445]

  • Leggieri A, García-González J, Hosseinian S, Ashdown P, Anagianni S, Wang X, Havelange W, Fernandez-Castillo N, Cormand B and Brennan CH.

    rbfox1 loss of function in zebrafish leads to dysregulation in bdnf/trkb2 and pac1a expression resulting in HPI axis hyperactivation, altered stress response and allostatic overload.

    Biorxiv . : .

    [doi:10.1101/2024.10.09.616976]

  • Zillich E, Belschner H, Avetyan D, Andrade-Brito D, Martínez-Magaña JJ, Frank J, Mechawar N, Turecki G, Cabana-Domínguez J, Fernandez-Castillo N, Cormand B, Montalvo-Ortiz JL, Nöthen MM, Hansson AC, Rietschel M, Spanagel R, Witt SH and Zillich L.

    Multi-omics profiling of DNA methylation and gene expression alterations in human cocaine use disorder

    TRANSLATIONAL PSYCHIATRY . 14(1): 428-428. Nº de cites: 1

    [doi:10.1038/s41398-024-03139-9]

  • Garcia-Giralt N, Ovejero D, Grinberg-Vaisman DR, Nogues X, Castañeda S, Balcells S and Rabionet-Janssen R.

    Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures

    HUMAN GENOMICS . 18(1): 87-87.

    [doi:10.1186/s40246-024-00652-2]

  • Centeno-Pla M, Alcaide-Consuegra E, Gibson S, Prat-Planas A, Gutiérrez-Ávila JD, Grinberg-Vaisman DR, Urreizti R, Rabionet-Janssen R and Balcells S.

    Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome

    JOURNAL OF MEDICAL GENETICS . 61(8): 780-782. Nº de cites: 3

    [doi:10.1136/jmg-2024-109898]

  • Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny T, Casas-Alba D, Grinberg-Vaisman DR, Balcells S, Serrano M, Rabionet-Janssen R, Martin MA and Urreizti R.

    Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review

    PEDIATRIC NEUROLOGY . 155: 8-17.

    [doi:10.1016/j.pediatrneurol.2024.03.008]

  • Vilar-Ribó L, Cabana-Domínguez J, Alemany S, Llonga N, Arribas L, Grau-López L, Daigre C, Cormand B, Fernandez-Castillo N, Ramos-Quiroga JA, Soler Artigas M and Ribasés M.

    Disentangling heterogeneity in substance use disorder: Insights from genome-wide polygenic scores

    TRANSLATIONAL PSYCHIATRY . 14(1): 221-221. Nº de cites: 1

    [doi:10.1038/s41398-024-02923-x]

  • Roca N, Maceda I, Bruque CD, Martinez-Gil N, Garcia-Giralt N, Cozar M, Mellibovsky L, Van Hul W, Lao O, Grinberg-Vaisman DR and Balcells S.

    Evolutionary and functional analyses of LRP5 in archaic and extant modern humans

    HUMAN GENOMICS . 18(1): 53-53.

    [doi:10.1186/s40246-024-00616-6]