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Genètica Molecular Humana I

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Publicacions

  • Fernandez-Castillo N, Cabana-Domínguez J, Soriano J, Sànchez-Mora C, Roncero C, Grau-López L, Ros-Cucurull E, Daigre C, van Donkelaar MM, Franke B, Casas M, Ribasés M and Cormand B.

    Transcriptomic and genetic studies identify NFAT5 as a candidate gene for cocaine dependence.

    TRANSLATIONAL PSYCHIATRY . 5(10): . Nº de cites: 13

    [doi:10.1038/tp.2015.158]

  • Canals I, Soriano J, Orlandi JG, Torrent R, Richaud-Patin Y, Jiménez-Delgado S, Merlin S, Follenzi A, Consiglio A, Vilageliu L, Grinberg-Vaisman DR and Raya A.

    Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks.

    STEM CELL REPORTS . 5(4): 546-557. Nº de cites: 24

    [doi:10.1016/j.stemcr.2015.08.016]

  • Zheng HF, Forgetta V, Hsu YH, Estrada K, Rosello-Diez A, Leo PJ, Dahia CL, Park-Min KH, Tobias JH, Kooperberg C, Kleinman A, Styrkarsdottir U, Liu CT, Uggla C, Evans DS, Nielson CM, Walter K, Pettersson-Kymmer U, McCarthy S, Eriksson J, Kwan T, Jhamai M, Trajanoska K, Memari Y, Min J, Huang J, Danecek P, Wilmot B, Li R, Chou WC, Mokry LE, Moayyeri A, Claussnitzer M, Cheng CH, Cheung W, Medina-Gómez C, Ge B, Chen SH, Choi K, Oei L, Fraser J, Kraaij R, Hibbs MA, Gregson CL, Paquette D, Hofman A, Wibom C, Tranah GJ, Marshall M, Gardiner BB, Cremin K, Auer P, Hsu L, Ring S, Tung JY, Thorleifsson G, Enneman AW, van Schoor NM, de Groot LC, van der Velde N, Melin B, Kemp JP, Christiansen C, Sayers A, Zhou Y, Calderari S, van Rooij J, Carlson C, Peters U, Berlivet S, Dostie J, Uitterlinden AG, Williams SR, Farber C, Grinberg-Vaisman DR, LaCroix AZ, Haessler J, Chasman DI, Giulianini F, Rose LM, Ridker PM, Eisman JA, Nguyen TV, Center JR, Nogues X, Garcia-Giralt N, Launer LL, Gudnason V, Mellström D, Vandenput L, Amin N, van Duijn CM, Karlsson MK, Ljunggren Ö, Svensson O, Hallmans G, Rousseau F, Giroux S, Bussière J, Arp PP, Koromani F, Prince RL, Lewis JR, Langdahl BL, Hermann AP, Jensen JE, Kaptoge S, Khaw KT, Reeve J, Formosa MM, Xuereb-Anastasi A, Åkesson K, McGuigan FE, Garg G, Olmos JM, Zarrabeitia MT, Riancho JA, Ralston SH, Alonso N, Jiang X, Goltzman D, Pastinen T, Grundberg E, Gauguier D, Orwoll ES, Karasik D, Davey-Smith G, AOGC Consortium, Smith AV, Siggeirsdottir K, Harris TB, Zillikens MC, van Meurs JB, Thorsteinsdottir U, Maurano MT, Timpson NJ, Soranzo N, Durbin R, Wilson SG, Ntzani EE, Brown MA, Stefansson K, Hinds DA, Spector T, Cupples LA, Ohlsson C, Greenwood CM, UK10K Consortium, Jackson RD, Rowe DW, Loomis CA, Evans DM, Ackert-Bicknell CL, Joyner AL, Duncan EL, Kiel DP, Rivadeneira F and Richards JB.

    Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.

    Nature . 526(7571): 112-117. Nº de cites: 395

    [doi:10.1038/nature14878]

  • Canals I, Beneto N, Cozar M, Vilageliu L and Grinberg-Vaisman DR.

    EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome.

    SCIENTIFIC REPORTS . 5: 13654-13654. Nº de cites: 20

    [doi:10.1038/srep13654]

  • Sánchez-Mora C, Richarte V, Garcia-Martínez I, Pagerols M, Corrales M, Bosch R, Vidal R, Viladevall L, Casas M, Cormand B, Ramos-Quiroga JA and Ribasés M.

    Dopamine receptor DRD4 gene and stressful life events in persistent attention deficit hyperactivity disorder.

    AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS . 168(6): 480-491. Nº de cites: 12

    [doi:10.1002/ajmg.b.32340]

  • Alemany S, Ribasés M, Vilor-Tejedor N, Bustamante M, Sánchez-Mora C, Bosch R, Richarte V, Cormand B, Casas M, Ramos-Quiroga JA and Sunyer J.

    New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.

    AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS . 168(6): 459-470. Nº de cites: 57

    [doi:10.1002/ajmg.b.32341]

  • Weber H, Kittel-Schneider S, Heupel J, Weißflog L, Kent L, Freudenberg F, Alttoa A, Post A, Herterich S, Haavik J, Halmøy A, Fasmer OB, Landaas ET, Johansson S, Cormand B, Ribasés M, Sánchez-Mora C, Ramos-Quiroga JA, Franke B, Lesch KP and Reif A.

    On the role of NOS1 ex1f-VNTR in ADHD-allelic, subgroup, and meta-analysis.

    AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS . 168(6): 445-458. Nº de cites: 16

    [doi:10.1002/ajmg.b.32326]

  • Gómez-Grau M, Garrido E, Cozar M, Rodriguez-Sureda V, Domínguez C, Arenas C, Gatti RA, Cormand B, Grinberg-Vaisman DR and Vilageliu L.

    Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.

    PLoS One . 10(8): . Nº de cites: 28

    [doi:10.1371/journal.pone.0135873]

  • Rodríguez-Sanz M, García-Giralt N, Prieto-Alhambra D, Servitja S, Balcells S, Pecorelli R, Díez-Pérez A, Grinberg-Vaisman DR, Tusquets I and Nogués X.

    CYP11A1 expression in bone is associated with aromatase inhibitor-related bone loss.

    J MOL ENDOCRINOL . 55(1): 69-79. Nº de cites: 22

    [doi:10.1530/JME-15-0079]

  • Dimitriou E, Cozar M, Mavridou I, Grinberg-Vaisman DR, Vilageliu L and Michelakakis H.

    The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.

    JIMD Reports . 25: 57-64. Nº de cites: 3

    [doi:10.1007/8904_2015_457]