Browsing by Author "Ovejero Crespo, Diana"

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  • A roadmap to gene discoveries and novel therapies in monogenic low and high bone mass disorders
    Formosa, Melissa M.; Bergen, Dylan J.M.; Gregson, Celia L.; Maurizi, Antonio; Kämpe, Anders; Garcia Giralt, Natàlia; Zhou, Wei; Grinberg, Daniel; Ovejero Crespo, Diana; Zillikens, M. Carola; Williams, Graham R.; Bassett, J.H. Duncan; Brandi, María Luisa; Sangiorgi, Luca; Balcells, Susana; Högler, Wolfgang; Van Hul, Wim; Mäkitie, Outi (Frontiers, 2021)
    Genetic disorders of the skeleton encompass a diverse group of bone diseases differing in clinical characteristics, severity, incidence and molecular etiology. Of particular interest are the monogenic rare bone mass ...
  • Calcifediol treatment and COVID-19-related outcomes
    Nogués Solan, Francesc Xavier; Ovejero Crespo, Diana; Pineda-Moncusí, Marta; Bouillon, Roger; Arenas Jiménez, María Dolores; Pascual Santos, Julio; Ribes, Anna; Guerri-Fernandez, Robert; Villar García, Judit; Rial, Abora; Gimenez-Argente, Carme; Cos, Maria Lourdes; Rodriguez-Morera, Jaime; Campodarve, Isabel; Quesada-Gómez, J.M.; García-Giralt, Natalia (Oxford University Press, 2021)
    Context: COVID-19 is a major health problem because of saturation of intensive care units (ICU) and mortality. Vitamin D has emerged as a potential treatment able to reduce the disease severity. Objective: This work aims ...
  • Cutaneous mosaicism: Special considerations for women
    Ellis, Katharine T.; Ovejero Crespo, Diana; Choate, Keith A. (Elsevier, 2021)
    Genetic mosaicism results from postzygotic mutations during embryogenesis. Cells harboring pathogenic mutations distribute throughout the developing embryo and can cause clinical disease in the tissues they populate. ...
  • Functional analyses of four CYP1A1 missense mutations present in patients with atypical femoral fractures
    Ugartondo, Nerea; Martínez-Gil, Núria; Esteve, Mònica; Garcia Giralt, Natàlia; Roca Ayats, Neus; Ovejero Crespo, Diana; Nogués Solan, Francesc Xavier; Díez Pérez, Adolfo; Rabionet, Raquel; Grinberg, Daniel; Balcells, Susana (MDPI, 2021)
    Osteoporosis is the most common metabolic bone disorder and nitrogen-containing bisphosphonates (BP) are a first line treatment for it. Yet, atypical femoral fractures (AFF), a rare adverse effect, may appear after prolonged ...
  • Functional assessment of coding and regulatory variants from the DKK1 locus
    Martínez-Gil, Núria; Roca Ayats, Neus; Atalay, Nurgül; Pineda-Moncusí, Marta; Garcia Giralt, Natàlia; Van Hul, Wim; Boudin, Eveline; Ovejero Crespo, Diana; Mellibovsky, Leonardo; Nogués Solan, Francesc Xavier; Diez-Perez, Adolfo; Grinberg, Daniel; Balcells, Susana (Wiley, 2020)
    The DKK1 gene encodes an extracellular inhibitor of the Wnt pathway with an important role in bone tissue development, bone homeostasis, and different critical aspects of bone biology. Several BMD genome-wide association ...
  • Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3
    Roca Ayats, Neus; Martínez-Gil, Núria; Cozar, Mónica; Gerousi, Marina; Garcia Giralt, Natàlia; Ovejero Crespo, Diana; Mellibovsky, Leonardo; Nogués Solan, Francesc Xavier; Díez Pérez, Adolfo; Grinberg, Daniel; Balcells, Susana (Elsevier, 2019)
    Genome-wide association studies (GWAS) have repeatedly identified genetic variants associated with bone mineral density (BMD) and osteoporotic fracture in non-coding regions of C7ORF76, a poorly studied gene of unknown ...
  • Gene network of susceptibility to atypical femoral fractures related to bisphosphonate treatment
    Garcia Giralt, Natàlia; Roca Ayats, Neus; Abril Ferrando, Josep Francesc; Martínez-Gil, Núria; Ovejero Crespo, Diana; Castañeda, Santos; Nogués Solan, Francesc Xavier; Grinberg, Daniel; Balcells, Susana; Rabionet, Raquel (MDPI, 2022)
    Atypical femoral fractures (AFF) are rare fragility fractures in the subtrocantheric or diaphysis femoral region associated with long-term bisphosphonate (BP) treatment. The etiology of AFF is still unclear even though a ...
  • Genetic analysis in a familial case with high bone mineral density suggests additive effects at two loci
    Martínez-Gil, Núria; Ovejero Crespo, Diana; Garcia Giralt, Natàlia; Bruque, Carlos David; Mellibovsky, Leonardo; Nogués Solan, Francesc Xavier; Rabionet, Raquel; Grinberg, Daniel; Balcells, Susana (Wiley, 2022)
    Osteoporosis is the most common bone disease, characterized by a low bone mineral density (BMD) and increased risk of fracture. At the other end of the BMD spectrum, some individuals present strong, fracture-resistant, ...
  • Gynecologic and reproductive outcomes in fibrous dysplasia/McCune-Albright Syndrome
    Boyce, Alison M.; Casey, Rachel K.; Ovejero Crespo, Diana; Murdock, Cynthia M.; Estrada, Andrea; Guthrie, Lori C.; Brillante, Beth A.; Gomez-Lobo, Veronica; Nieman, Lynette K.; Collins, Michael T. (BioMed Central, 2019)
    Background: Autonomous ovarian activation with recurrent estrogen-producing cysts is a hallmark feature of the rare bone and endocrine disorder fibrous dysplasia/McCune-Albright syndrome. Precocious puberty in girls with ...
  • Radiofrequency echographic multi spectrometry (REMS) for the diagnosis of osteoporosis in a European multicenter clinical context
    Cortet, Bernard; Dennison, Elaine; Diez-Perez, Adolfo; Locquet, Médéa; Muratore, Maurizio; Nogués Solan, Francesc Xavier; Ovejero Crespo, Diana; Quarta, Eugenio; Brandi, María Luisa (Elsevier, 2021)
    Background: Radiofrequency Echographic Multi Spectrometry (REMS) is a non-ionizing technology for the densitometric assessment of osteoporosis. It has already been validated in Italian women with respect to the current ...