Investigación

Genética Molecular Humana I

Buscador de publicaciones

Publicaciones

  • Ovejero D, Garcia-Giralt N, Martinez-Gil N, Rabionet-Janssen R, Balcells S, Grinberg-Vaisman DR, Pérez-Jurado L, Nogués X and Foronda IE.

    Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions.

    Bone . 161: 116450-116450. Nº de citas: 2

    [doi:10.1016/j.bone.2022.116450]

  • Martinez-Gil N, Mellibovsky L, Manzano-López González D, Patiño JD, Cozar M, Rabionet-Janssen R, Grinberg-Vaisman DR and Balcells S.

    On the association between Chiari malformation type 1, bone mineral density and bone related genes.

    Bone Reports . 16: 101181-101181. Nº de citas: 1

    [doi:10.1016/j.bonr.2022.101181]

  • Garcia-Blanco, A, Domingo-Rodriguez, L, Cabana-Domínguez J, Fernandez-Castillo N, Pineda L, Mayneris-Perxachs, J, Burokas, A, Espinosa-Carrasco, J, Arboleya, S, Latorre, J, Stanton, C, Cormand B, Fernandez-Real, JM, Martin-Garcia, E and Maldonado, R.

    miRNA signatures associated with vulnerability to food addiction in mice and humans

    JOURNAL OF CLINICAL INVESTIGATION . 132(10): . Nº de citas: 4

    [doi:10.1172/JCI156281]

  • Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch-Iriberri R, Gallano P, Garrabou G, González JR, Grinberg-Vaisman DR, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA and Beltran S.

    Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.

    JOURNAL OF MOLECULAR DIAGNOSTICS . 24(5): 529-542. Nº de citas: 1

    [doi:10.1016/j.jmoldx.2022.02.003]

  • Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.

    CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

    CLINICAL GENETICS . 101(5-6): 481-493. Nº de citas: 7

    [doi:10.1111/cge.14113]

  • Martinez-Gil N, Ovejero, D, Garcia-Giralt, N, Bruque, CD, Mellibovsky, L, Nogues, X, Rabionet, R, Grinberg-Vaisman DR and Balcells S.

    Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci.

    jbmr plus . 6(4): .

    [doi:10.1002/jbm4.10602]

  • López-Marquez A, Morín M, Fernández-Peñalver S, Badosa-Gallego MC, Hernández-Delgado A, Natera-de Benito D, Ortez-Gonzalez CI, Nascimento-Osorio A, Grinberg-Vaisman DR, Balcells S, Roldan-Molina M, Moreno-Pelayo MÁ and Jimenez-Mallebrera C.

    CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(8): 4410. Nº de citas: 4

    [doi:10.3390/ijms23084410]

  • Pineda L, Cabana-Domínguez J, Lee, PH, Fernandez-Castillo N and Cormand B.

    Identification of genetic variants influencing methylation in brain with pleiotropic effects on psychiatric disorders

    PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY . 113: 110454-110454. Nº de citas: 5

    [doi:10.1016/j.pnpbp.2021.110454]

  • Domènech L, Willis J, Alemany-Navarro M, Morell M, Real E, Escaramís G, Bertolín S, Sánchez Chinchilla D, Balcells S, Segalàs C, Estivill X, Menchón JM, Gabaldón T, Alonso P and Rabionet-Janssen R.

    Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder

    SCIENTIFIC REPORTS . 12(1): 1448-1448. Nº de citas: 15

    [doi:10.1038/s41598-022-05480-9]

  • Andrade I, Ribeiro R, Carneiro ZA, Giugliani R, Pereira C, Cozma C, Grinberg-Vaisman DR, Vilageliu L and Lourenco CM.

    Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report.

    Journal Of Medical Case Reports . 16(1): 46-46. Nº de citas: 2

    [doi:10.1186/s13256-021-03240-3]