People / Staff

Roser Urreizti Frexedas

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Publications

  • Mason S, Castilla-Vallmanya L, James C, Andrews PI, Balcells S, Grinberg-Vaisman DR, Kirk EP and Urreizti R.

    Case report of a child bearing a novel deleterious splicing variant in PIGT

    Medicine . 98(8): . Number of citations: 5

    [doi:10.1097/MD.0000000000014524]

  • Urreizti R, Gürsoy S, Castilla-Vallmanya L, Cunill G, Rabionet-Janssen R, Erçal D, Grinberg-Vaisman DR and Balcells S.

    The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.

    clinical case reports . 6(8): 1452-1456. Number of citations: 4

    [doi:10.1002/ccr3.1603]

  • Urreizti R, Damanti S, Esteve-Matanza C, Franco-Valls H, Castilla-Vallmanya L, Tonda R, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg-Vaisman DR and Balcells S.

    A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome

    SCIENTIFIC REPORTS . 8: 694-694. Number of citations: 11

    [doi:10.1038/s41598-017-19109-9]

  • De-Ugarte L, Yoskovitz G, Balcells S, Güerri-Fernández R, Martinez-Diaz S, Mellibovsky L, Urreizti R, Nogués X, Grinberg-Vaisman DR, García-Giralt N and Díez-Pérez A.

    Erratum to: MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones.

    BMC MEDICAL GENOMICS . 10(1): 36-36.

    [doi:10.1186/s12920-017-0272-3]

  • Urreizti R, Cueto-Gonzalez, Ana Maria, Franco-Valls, Héctor, Mort-Farre, Silvia, Roca N, Ponomarenko, Julia, Cozzuto, Luca, Company, Carlos, Bosio M, Ossowski, Stephan, Montfort, Magda, Hecht, Jochen, Tizzano, Eduardo, Cormand B, Vilageliu L, Opitz, John, Neri, Giovanni, Grinberg-Vaisman DR and Balcells S.

    A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.

    SCIENTIFIC REPORTS . 7: 44138-44138. Number of citations: 27

    [doi:10.1038/srep44138]

  • Urreizti R, Roca N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Cormand B, Vilageliu L, Balcells S and Grinberg-Vaisman DR.

    Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 170A(1): 24-31. Number of citations: 11

    [doi:10.1002/ajmg.a.37418]

  • De-Ugarte L, Yoskovitz G, Balcells S, Güerri-Fernández R, Martinez-Diaz S, Mellibovsky L, Urreizti R, Nogués X, Grinberg-Vaisman DR, García-Giralt N and Díez-Pérez A.

    MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones.

    BMC MEDICAL GENOMICS . 8: 75-75. Number of citations: 73

    [doi:10.1186/s12920-015-0149-2]

  • Delgado MA, Martinez-Domenech G, Sarrión P, Urreizti R, Zecchini L, Robledo HH, Segura F, de Kremer RD, Balcells S, Grinberg-Vaisman DR and Asteggiano CG.

    A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.

    SCIENTIFIC REPORTS . 4: 6407-6407. Number of citations: 14

    [doi:10.1038/srep06407]

  • Sarrión P, Mellibovsky L, Urreizti R, Civit S, Cols N, García-Giralt N, Yoskovitz G, Aranguren A, Malouf J, Di Gregorio S, Río LD, Güerri R, Nogués X, Díez-Pérez A, Grinberg-Vaisman DR and Balcells S.

    Genetic analysis of high bone mass cases from the BARCOS cohort of Spanish postmenopausal women.

    PLoS One . 9(4): . Number of citations: 15

    [doi:10.1371/journal.pone.0094607]

  • Urreizti R, Garcia-Giralt N, Riancho JA, González-Macías J, Civit S, Güerri R, Yoskovitz G, Sarrion P, Mellivobsky L, Díez-Pérez A, Nogués X, Balcells S and Grinberg-Vaisman DR.

    COL1A1 haplotypes and hip fracture.

    JOURNAL OF BONE AND MINERAL RESEARCH . 27(4): 950-953. Number of citations: 18

    [doi:10.1002/jbmr.1536]