Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Displàsia fibrosa òssia"'
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
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:
Formosa, M, Bergen, D J M, Gregson, C L, Maurizi, A, Kampe, A, Garcia-Giralt, N, Zhou, W, Grindberg, D, Ovejero Crespo, D, Zilikens, M C, Williams, G, Bassett, J H D, Brandi, M L, Sangiorgi, L, Hogler, W, van Hul, W & Mäkitie, O 2021, ' A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders ', Frontiers in Endocrinology, vol. 12, 709711 . https://doi.org/10.3389/fendo.2021.709711
Frontiers in Endocrinology, Vol 12 (2021)
Frontiers in endocrinology
Frontiers in Endocrinology
Frontiers in Endocrinology, Vol 12 (2021)
Frontiers in endocrinology
Frontiers in Endocrinology
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::da20514bf2667f734f93b94388b65344
http://www.scopus.com/inward/record.url?scp=85114234110&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85114234110&partnerID=8YFLogxK
Autor:
Cristina Sánchez-de-Diego, Francesc Ventura, José Antonio Valer, Jose Luis Rosa, Carolina Pimenta-Lopes
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Cells, Vol 8, Iss 11, p 1366 (2019)
Cells
Universidad de Barcelona
Cells, Vol 8, Iss 11, p 1366 (2019)
Cells
Activin A receptor type I (ACVR1) encodes for a bone morphogenetic protein type I receptor of the TGFβ receptor superfamily. It is involved in a wide variety of biological processes, including bone, heart, cartilage, nervous, and reproductive system
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::077d37e8225b3fd2f53ff2f2f9e073cf
http://hdl.handle.net/2445/168222
http://hdl.handle.net/2445/168222
Autor:
Sergio Nuñez-Urrutia, Cosme Gay-Escoda, Jorge Toledano-Serrabona, Alba Sánchez-Torres, Erika Vegas-Bustamante
Publikováno v:
Toledano-Serrabona, Jorge ; Núñez Urrutia, S. ; Vegas Bustamante, Erika ; Sánchez Torres, Alba ; Gay Escoda, Cosme. Florid cemento-osseous dysplasia : report of 2 cases. En: Journal of Clinical and Experimental Dentistry, 10 11 2018: 1145-1148
RODERIC. Repositorio Institucional de la Universitat de Valéncia
instname
Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Clinical and Experimental Dentistry
RODERIC. Repositorio Institucional de la Universitat de Valéncia
instname
Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Clinical and Experimental Dentistry
Introduction Florid cemento-osseous dysplasia is a non-neoplastic fibro-osseous lesion which often has an asymptomatic slow growth. Unfortunately, these lesions are usually diagnosed through routine radiographic examination. The aim of this study was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc2a05eb703fbc1845fa8923b7b0b788
http://hdl.handle.net/10550/69411
http://hdl.handle.net/10550/69411
Introduction: Fibrous Dysplasia is a rare benign bone disorder with unknown aetiology; consists in replacement of normal medullary bone by fibroosseous tissue, causing distortion and overgrowth of the bones involved. Entity with nonspecific clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1890::393f0829ba3f8519d360fb03833f84bc
https://hdl.handle.net/10459.1/58397
https://hdl.handle.net/10459.1/58397
Publikováno v:
Repositorio Abierto de la UdL
Universitad de Lleida
Recercat. Dipósit de la Recerca de Catalunya
instname
Universitad de Lleida
Recercat. Dipósit de la Recerca de Catalunya
instname
Introduction: Fibrous Dysplasia is a rare benign bone disorder with unknown aetiology; consists in replacement of normal medullary bone by fibroosseous tissue, causing distortion and overgrowth of the bones involved. Entity with nonspecific clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::91fc888e0fbffc679ee585ec392f9fdc
http://hdl.handle.net/10459.1/58397
http://hdl.handle.net/10459.1/58397
Autor:
Albiol Ferrer, Josep Maria, Giralt de Veciana, Enrique, Marugán de los Bueis, Montse, Novel Martí, Virginia, Padrós Sánchez, Carolina, Valero Santiago, Lidia
Publikováno v:
Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelona
instname
Dipòsit Digital de la UB
Universidad de Barcelona
Tomando como punto de referencia la anatomía macroscópica; el pie, se nos presenta con identidad propia, sin embargo, desde el punto de vista biomecánico es parte integrante de la extremidad inferior como unidad funcional y elemento básico en la
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::cdf447e2e31eb46d64e39dacb63f97ea
http://hdl.handle.net/2445/66906
http://hdl.handle.net/2445/66906