Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Diana, Ovejero"'
Autor:
Natalia Garcia-Giralt, Diana Ovejero, Daniel Grinberg, Xavier Nogues, Santos Castañeda, Susanna Balcells, Raquel Rabionet
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-4 (2024)
Abstract Background Recent studies suggested that genetic variants associated with monogenic bone disorders were involved in the pathogenesis of atypical femoral fractures (AFF). Here, we aim to identify rare genetic variants by whole exome sequencin
Externí odkaz:
https://doaj.org/article/61fb948c4fc94f8ca47a2b7e29955792
Autor:
Diana Ovejero, Zachary Michel, Christophe Cataisson, Amanda Saikali, Rebeca Galisteo, Stuart H. Yuspa, Michael T. Collins, Luis F. de Castro
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 9 (2023)
Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a mosaic RASopathy characterized by the association of dysplastic skeletal lesions, congenital skin nevi of epidermal and/or melanocytic origin, and FGF23-mediated hypophosphatemia. The primary p
Externí odkaz:
https://doaj.org/article/7f8e170ae61a40e38c63ea6074cc6fde
Publikováno v:
International Journal of Women's Dermatology, Vol 7, Iss 5, Pp 539-544 (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. Cutaneous mosaicism is readily vi
Externí odkaz:
https://doaj.org/article/92b06056d6d247418ff80907af475c9d
Autor:
Núria Martínez‐Gil, Diana Ovejero, Natalia Garcia‐Giralt, Carlos David Bruque, Leonardo Mellibovsky, Xavier Nogués, Raquel Rabionet, Daniel Grinberg, Susanna Balcells
Publikováno v:
JBMR Plus, Vol 6, Iss 4, Pp n/a-n/a (2022)
ABSTRACT 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, bones. Both osteopor
Externí odkaz:
https://doaj.org/article/db2157af1b33404997df7c4e6ba921f2
Autor:
Melissa M. Formosa, Dylan J. M. Bergen, Celia L. Gregson, Antonio Maurizi, Anders Kämpe, Natalia Garcia-Giralt, Wei Zhou, Daniel Grinberg, Diana Ovejero Crespo, M. Carola Zillikens, Graham R. Williams, J. H. Duncan Bassett, Maria Luisa Brandi, Luca Sangiorgi, Susanna Balcells, Wolfgang Högler, Wim Van Hul, Outi Mäkitie
Publikováno v:
Frontiers in Endocrinology, Vol 12 (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 disorders, with the underlying gen
Externí odkaz:
https://doaj.org/article/c40099a1d4c14c6b8b27c337b7001312
Autor:
Alison M. Boyce, Rachel K. Casey, Diana Ovejero Crespo, Cynthia M. Murdock, Andrea Estrada, Lori C. Guthrie, Beth A. Brillante, Veronica Gomez-Lobo, Lynette K. Nieman, Michael T. Collins
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
Abstract 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 McCune-Albright syndr
Externí odkaz:
https://doaj.org/article/af1e78ce18b74956b266bfcb9aa74a7c
Autor:
Núria Martínez-Gil, Neus Roca-Ayats, Nurgül Atalay, Marta Pineda-Moncusí, Natàlia Garcia-Giralt, Wim Van Hul, Eveline Boudin, Sergi Vives, Mireia Vinardell, Leonardo Mellibovsky, Xavier Nogués, Diana Ovejero, Adolfo Díez-Pérez, Daniel Grinberg, Susanna Balcells
Publikováno v:
Bone Reports, Vol 13, Iss , Pp 100348- (2020)
Externí odkaz:
https://doaj.org/article/2fc8a548541e498e8ec9bcd0fa2e33dd
Autor:
Michael T. Collins, Luis Fernandez de Castro Diaz, Iris R Hartley, Xiaobai Li, Rachel I Gafni, Elizabeth H Theng, Diana Ovejero
Publikováno v:
Journal of Bone and Mineral Research. 37:179-184
Parathyroid hormone (PTH) and fibroblast growth factor 23 (FGF23) both influence blood phosphate levels by regulating urinary phosphate reabsorption. Clinical data suggest that adequate renal phosphate handling requires the presence of both FGF23 and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb95605a5ca92d02a1ff7c2399398671
https://doi.org/10.1002/jbmr.4429
https://doi.org/10.1002/jbmr.4429
Autor:
Diana Ovejero, Natalia Garcia-Giralt, Núria Martínez-Gil, Raquel Rabionet, Susanna Balcells, Daniel Grinberg, Luis Alberto Pérez-Jurado, Xavier Nogués, Iñigo Etxebarria-Foronda
Publikováno v:
Bone. 161
High bone mass (HBM) disorders are a clinically and genetically heterogeneous subgroup of rare skeletal dysplasias. Here we present a case of a previously unreported familial skeletal dysplasia characterized by HBM and lucent bone lesions that we aim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa028426f67ceb15007af20b49f4b7b9
https://pubmed.ncbi.nlm.nih.gov/35623613
https://pubmed.ncbi.nlm.nih.gov/35623613