المؤلفون: Guoying Chang, Qun Li, Niu Li, Guoqiang Li, Juan Li, Yu Ding, Xiaodong Huang, Yongnian Shen, Jian Wang, Xiumin Wang

المصدر: BMC Endocrine Disorders, Vol 22, Iss 1, Pp 1-8 (2022)

مصطلحات موضوعية: GNAS, Pseudohypoparathyroidism, Pseudopseudohypoparathyroidism, Progressive osseous heteroplasia, Albright’s hereditary osteodystrophy, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1472-6823Test

الوصول الحر: https://doaj.org/article/0b1389ec728e4e308d933476e75aee0eTest

المؤلفون: M. Cebey-López, M. J. Currás-Tuala, J. Gómez-Rial, I. Rivero-Calle, J. Pardo-Seco, R. Mendez-Gallart, S. Pischedda, A. Gómez-Carballa, R. Barral-Arca, A. Justicia-Grande, S. Viz-Lasheras, C. Rodríguez-Tenreiro, R. Gómez, A. Salas, F. Martinón-Torres

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: progressive osseous heteroplasia, Everolimus, bone turnover, bone metabolism, mTOR, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2022.936780/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/739d029c73ca497da3f84a32bf92c5c3Test

المؤلفون: Antonio José Justicia-Grande, Jose Gómez-Ríal, Irene Rivero-Calle, Sara Pischedda, María José Curras-Tuala, Alberto Gómez-Carballa, Miriam Cebey-López, Jacobo Pardo-Seco, Roberto Méndez-Gallart, María José Fernández-Seara, Antonio Salas, Federico Martinón-Torres

المصدر: Frontiers in Pediatrics, Vol 9 (2021)

مصطلحات موضوعية: progressive osseous heteroplasia, POH, treatment, genetic diseases, monochorionic twins, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2021.807812/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/9379d4cd9f304061bfc3e2dad397cc75Test

المؤلفون: Antonio José Justicia-Grande, Jose Gómez-Ríal, Irene Rivero-Calle, Sara Pischedda, María José Curras-Tuala, Alberto Gómez-Carballa, Miriam Cebey-López, Jacobo Pardo-Seco, Roberto Méndez-Gallart, María José Fernández-Seara, Antonio Salas, Federico Martinón-Torres

المصدر: Frontiers in Pediatrics, Vol 9 (2021)

مصطلحات موضوعية: progressive osseous heteroplasia, POH, treatment, genetic diseases, monochorionic twins, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2021.662669/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/474a0cc12ebb48dead34f0f679709ddcTest

المؤلفون: Niambi Brewer, John T. Fong, Deyu Zhang, Girish Ramaswamy, Eileen M. Shore

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: Gnas, heterotopic ossification, progressive osseous heteroplasia, subcutaneous adipose tissue, adipose stromal cells, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.633206/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/693ed1ba5cf74178aee0079f37c44ab7Test

المؤلفون: Mantovani, Giovanna, Bastepe, Murat, Monk, David, De Sanctis, Luisa, Thiele, Susanne, Ahmed, S. Faisal, Bufo, Roberto, Choplin, Timothee, De Filippo, Gianpaolo, Devernois, Guillemette, Eggermann, Thomas, Elli, Francesca M., Garcia Ramirez, Aurora, Germain-Lee, Emily L., Groussin, Lionel, Hamdy, Neveen A. T., Hanna, Patrick, Hiort, Olaf, Jueppner, Harald, Kamenicky, Peter, Knight, Nina, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A., Mäkitie, Outi, Martin, Regina, Martos-Moreno, Gabriel Angel, Minagawa, Manasori, Murray, Philip, Pereda, Arrate, Pignolo, Robert, Rejnmark, Lars, Rodado, Rebeca, Rothenbuhler, Anya, Saraff, Vrinda, Shoemaker, Ashley H., Shore, Eileen M., Silve, Caroline, Turan, Serap, Woods, Philip, Zillikens, M. Carola, Perez de Nanclares, Guiomar, Linglart, Agnes

المساهمون: HUS Children and Adolescents, Clinicum, Lastentautien yksikkö, Children's Hospital, University of Helsinki, Helsinki University Hospital Area

مصطلحات موضوعية: Acrodysostosis, Bone disorders, Brachydactyly, Calcium and phosphate metabolism, Consensus, Diagnosis, Management, Ossification, Parathyroid hormone, Pseudohypoparathyroidism, Treatment, ALBRIGHT HEREDITARY OSTEODYSTROPHY, PROGRESSIVE OSSEOUS HETEROPLASIA, IDENTIFIES PDE4D MUTATIONS, HORMONE-RELEASING-HORMONE, STIMULATORY G-PROTEIN, PSEUDO-PSEUDOHYPOPARATHYROIDISM, SKELETAL RESPONSIVENESS, INCREASED PREVALENCE, PARATHYROID-HORMONE, ENERGY-EXPENDITURE, 3123 Gynaecology and paediatrics

وصف الملف: application/pdf

العلاقة: The European Network on Pseudohypoparathyroidism (EuroPHPnet), which promoted the consensus, was funded by an ESPE grant to A.L. The consensus statement and the series of consensus meetings were supported by funds from the COST action BM1208 on imprinting disorders (www.imprinting-disorders.eu), the ESPE, and the ESE. Travel costs and housing of the representatives of the APPES and of the PES were supported by their societies. We received no funding from pharmaceutical companies.; Mantovani , G , Bastepe , M , Monk , D , De Sanctis , L , Thiele , S , Ahmed , S F , Bufo , R , Choplin , T , De Filippo , G , Devernois , G , Eggermann , T , Elli , F M , Garcia Ramirez , A , Germain-Lee , E L , Groussin , L , Hamdy , N A T , Hanna , P , Hiort , O , Jueppner , H , Kamenicky , P , Knight , N , Le Norcy , E , Lecumberri , B , Levine , M A , Mäkitie , O , Martin , R , Martos-Moreno , G A , Minagawa , M , Murray , P , Pereda , A , Pignolo , R , Rejnmark , L , Rodado , R , Rothenbuhler , A , Saraff , V , Shoemaker , A H , Shore , E M , Silve , C , Turan , S , Woods , P , Zillikens , M C , Perez de Nanclares , G & Linglart , A 2020 , ' Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders : An Updated Practical Tool for Physicians and Patients ' , Hormone research in paediatrics , vol. 93 , no. 3 , pp. 182-196 . https://doi.org/10.1159/000508985Test; ORCID: /0000-0002-4547-001X/work/155651939; http://hdl.handle.net/10138/332839Test; 44877169-dc8b-4984-96e2-e0ec92220465; 000570204500006

الإتاحة: http://hdl.handle.net/10138/332839Test

المؤلفون: DEMİRCİOĞLU, SERAP

المساهمون: Mantovani, Giovanna, Bastepe, Murat, Monk, David, De Sanctis, Luisa, Thiele, Susanne, Ahmed, S. Faisal, Bufo, Roberto, Choplin, Timothee, De Filippo, Gianpaolo, Devernois, Guillemette, Eggermann, Thomas, Elli, Francesca M., Garcia Ramirez, Aurora, Germain-Lee, Emily L., Groussin, Lionel, Hamdy, Neveen A. T., Hanna, Patrick, Hiort, Olaf, Jueppner, Harald, Kamenicky, Peter, Knight, Nina, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A., Maekitie, Outi, Martin, Regina, Martos-Moreno, Gabriel Angel, Minagawa, Manasori, Murray, Philip, Pereda, Arrate, Pignolo, Robert, Rejnmark, Lars, Rodado, Rebeca, Rothenbuhler, Anya, Saraff, Vrinda, Shoemaker, Ashley H., Shore, Eileen M., Silve, Caroline, Turan, Serap, Woods, Philip, Zillikens, M. Carola, Perez de Nanclares, Guiomar, Linglart, Agnes

مصطلحات موضوعية: Acrodysostosis, Bone disorders, Brachydactyly, Calcium and phosphate metabolism, Consensus, Diagnosis, Management, Ossification, Parathyroid hormone, Pseudohypoparathyroidism, Treatment, ALBRIGHT HEREDITARY OSTEODYSTROPHY, PROGRESSIVE OSSEOUS HETEROPLASIA, IDENTIFIES PDE4D MUTATIONS, HORMONE-RELEASING-HORMONE, STIMULATORY G-PROTEIN, PSEUDO-PSEUDOHYPOPARATHYROIDISM, SKELETAL RESPONSIVENESS, INCREASED PREVALENCE, PARATHYROID-HORMONE, ENERGY-EXPENDITURE

وصف الملف: application/pdf

العلاقة: HORMONE RESEARCH IN PAEDIATRICS; https://hdl.handle.net/11424/243146Test; WOS:000570204500006

الإتاحة: https://doi.org/10.1159/000508985Test
https://hdl.handle.net/11424/243146Test

المؤلفون: Albert E. Chudley, Dirk E. Schrander, Constance T. R. M. Stumpel, Colin A. Johnson, Neeti Ghali, Alistair Calder, Heleen M. Staal

المساهمون: MUMC+: MA Orthopedie (9), MUMC+: MA AIOS Orthopedie (9), Orthopedie, RS: CAPHRI - R3 - Functioning, Participating and Rehabilitation, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica

المصدر: Journal of Pediatric Genetics, 11(01), 51-58. Georg Thieme Verlag
J Pediatr Genet

مصطلحات موضوعية: mandibular hypoplasia, auditory canal atresia, HIP, ORGANIZER, PROGRESSIVE OSSEOUS HETEROPLASIA, MOUSE, SKELETAL ABNORMALITIES, GENE, SAMS syndrome, Pediatrics, Perinatology and Child Health, DISLOCATION, scapulohumoral synostosis, ventral dislocation of the hips, AUDITORY-CANAL ATRESIA, SHORT STATURE, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4caafea111ce47796af22fda7d85f40dTest
https://doi.org/10.1055/s-0040-1714700Test

المؤلفون: Gvozdenović-Jeremić, Jelena, Mojović, Ljiljana

المصدر: GENETIKA-BELGRADE

مصطلحات موضوعية: drug repurposing, ectopic ossification, Hedgehog pathway inhibitors, mesenchymal progenitor cells, Progressive Osseous Heteroplasia

العلاقة: http://TechnoRep.tmf.bg.ac.rs/handle/123456789/4255Test; http://TechnoRep.tmf.bg.ac.rs/bitstream/id/1934/4252.pdfTest; 2-s2.0-85066009658; 000467414400029

الإتاحة: https://doi.org/10.2298/GENSR1901347GTest
http://TechnoRep.tmf.bg.ac.rs/handle/123456789/4255Test
http://TechnoRep.tmf.bg.ac.rs/bitstream/id/1934/4252.pdfTest

المؤلفون: Mantovani, Giovanna, Bastepe, Murat, Monk, David, de Sanctis, Luisa, Thiele, Susanne, Usardi, Alessia, Ahmed, S. Faisal, Bufo, Roberto, Choplin, Timothee, De Filippo, Gianpaolo, Devernois, Guillemette, Eggermann, Thomas, Elli, Francesca M., Freson, Kathleen, Garcia Ramirez, Aurora, Germain-Lee, Emily L., Groussin, Lionel, Hamdy, Neveen, Hanna, Patrick, Hiort, Olaf, Juppner, Harald, Kamenicky, Peter, Knight, Nina, Kottler, Marie-Laure, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A., Mäkitie, Outi, Martin, Regina, Angel Martos-Moreno, Gabriel, Minagawa, Masanori, Murray, Philip, Pereda, Arrate, Pignolo, Robert, Rejnmark, Lars, Rodado, Rebecca, Rothenbuhler, Anya, Saraff, Vrinda, Shoemaker, Ashley H., Shore, Eileen M., Silve, Caroline, Turan, Serap, Woods, Philip, Zillikens, M. Carola, Perez de Nanclares, Guiomar, Linglart, Agnes

المساهمون: Clinicum, Lastentautien yksikkö, Children's Hospital, HUS Children and Adolescents

مصطلحات موضوعية: PROGRESSIVE OSSEOUS HETEROPLASIA, ALBRIGHT HEREDITARY OSTEODYSTROPHY, GS-ALPHA-GENE, PARATHYROID-HORMONE RESISTANCE, STIMULATORY G-PROTEIN, DEPENDENT PROBE AMPLIFICATION, PATERNAL UNIPARENTAL DISOMY, BRACHYDACTYLY TYPE-E, NUCLEOTIDE REGULATORY PROTEIN, GNAS INACTIVATING MUTATIONS, 3121 General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

العلاقة: This Consensus Statement and the series of consensus meetings were supported by funds from the European Cooperation in Science and Technology (COST) action BM1208 on imprinting disorders (www.imprinting-disorders.eu), the European Society for Paediatric Endocrinology (ESPE) and the European Society for Endocrinology (ESE). Travel costs and housing of the representatives of the Asian Pacific Paediatric Endocrine Society (APPES) and of the Pediatric Endocrine Society (PES) were supported by their societies. The authors received no funding from pharmaceutical companies.; Mantovani , G , Bastepe , M , Monk , D , de Sanctis , L , Thiele , S , Usardi , A , Ahmed , S F , Bufo , R , Choplin , T , De Filippo , G , Devernois , G , Eggermann , T , Elli , F M , Freson , K , Garcia Ramirez , A , Germain-Lee , E L , Groussin , L , Hamdy , N , Hanna , P , Hiort , O , Juppner , H , Kamenicky , P , Knight , N , Kottler , M-L , Le Norcy , E , Lecumberri , B , Levine , M A , Mäkitie , O , Martin , R , Angel Martos-Moreno , G , Minagawa , M , Murray , P , Pereda , A , Pignolo , R , Rejnmark , L , Rodado , R , Rothenbuhler , A , Saraff , V , Shoemaker , A H , Shore , E M , Silve , C , Turan , S , Woods , P , Zillikens , M C , Perez de Nanclares , G & Linglart , A 2018 , ' Diagnosis and management of pseudohypoparathyroidism and related disorders : first international Consensus Statement ' , Nature reviews. Endocrinology , vol. 14 , no. 8 , pp. 476-500 . https://doi.org/10.1038/s41574-018-0042-0Test; ORCID: /0000-0002-4547-001X/work/155652020; http://hdl.handle.net/10138/237441Test; d7946462-6abf-4b30-9d59-c893069c6c88; 85049131329; 000438414300016

الإتاحة: http://hdl.handle.net/10138/237441Test