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1دورية أكاديمية
المؤلفون: Mantovani, Giovanna, Bastepe, Murat, Monk, David, de Sanctis, Luisa, Thiele, Susanne, Ahmed, S Faisal, Bufo, Roberto, Choplin, Timothée, 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, Jüppner, Harald, Kamenický, Peter, Knight, Nina, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A, Mäkitie, Outi, Martin, Regina, Martos-Moreno, Gabriel Ángel, 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, Agnès
المساهمون: Mantovani, Giovanna, Bastepe, Murat, Monk, David, de Sanctis, Luisa, Thiele, Susanne, Ahmed, S Faisal, Bufo, Roberto, Choplin, Timothée, De Filippo, Gianpaolo, Devernois, Guillemette, Eggermann, Thoma, Elli, Francesca M, Garcia Ramirez, Aurora, Germain-Lee, Emily L, Groussin, Lionel, Hamdy, Neveen A T, Hanna, Patrick, Hiort, Olaf, Jüppner, Harald, Kamenický, Peter, Knight, Nina, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A, Mäkitie, Outi, Martin, Regina, Martos-Moreno, Gabriel Ángel, Minagawa, Manasori, Murray, Philip, Pereda, Arrate, Pignolo, Robert, Rejnmark, Lar, 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, Agnès
مصطلحات موضوعية: Acrodysostosi, Bone disorder, Brachydactyly, Calcium and phosphate metabolism, Consensu, Diagnosi, Management, Ossification, Parathyroid hormone, Pseudohypoparathyroidism, Treatment
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32756064; info:eu-repo/semantics/altIdentifier/wos/WOS:000570204500006; volume:93; issue:3; firstpage:182-196; lastpage:196; numberofpages:15; journal:HORMONE RESEARCH IN PAEDIATRICS; http://hdl.handle.net/2318/1767394Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089824135
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2دورية أكاديمية
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
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3دورية أكاديمية
المؤلفون: Mantovani, Giovanna, Bastepe, Murat, Monk, David, De Sanctis, Luisa, Thiele, Susanne, Usardi, Alessia, Ahmed, S. Faisal, Bufo, Roberto, Choplin, Timothée, De Filippo, Gianpaolo, Devernois, Guillemette, Eggermann, Thomas, Elli, Francesca M., Freson, Kathleen, García Ramirez, Aurora, Germain-Lee, Emily L., Groussin, Lionel, Hamdy, Neveen, Hanna, Patrick, Hiort, Olaf, Jüppner, Harald, Kamenický, Peter, Knight, Nina, Kottler, Marie-Laure, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A., Mäkitie, Outi, Martin, Regina, Martos-Moreno, Gabriel Ángel, 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, Carola Zillikens, M., De Nanclares, Guiomar Perez, Linglart, Agnès
المساهمون: Mantovani, Giovanna, Bastepe, Murat, Monk, David, De Sanctis, Luisa, Thiele, Susanne, Usardi, Alessia, Ahmed, S. Faisal, Bufo, Roberto, Choplin, Timothée, De Filippo, Gianpaolo, Devernois, Guillemette, Eggermann, Thoma, Elli, Francesca M., Freson, Kathleen, García Ramirez, Aurora, Germain-Lee, Emily L., Groussin, Lionel, Hamdy, Neveen, Hanna, Patrick, Hiort, Olaf, Jüppner, Harald, Kamenický, Peter, Knight, Nina, Kottler, Marie-Laure, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A., Mäkitie, Outi, Martin, Regina, Martos-Moreno, Gabriel Ángel, Minagawa, Masanori, Murray, Philip, Pereda, Arrate, Pignolo, Robert, Rejnmark, Lar, Rodado, Rebecca, Rothenbuhler, Anya, Saraff, Vrinda, Shoemaker, Ashley H., Shore, Eileen M., Silve, Caroline, Turan, Serap, Woods, Philip, Carola Zillikens, M., De Nanclares, Guiomar Perez, Linglart, Agnès
مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29959430; info:eu-repo/semantics/altIdentifier/wos/WOS:000438414300016; volume:14; issue:8; firstpage:476; lastpage:500; numberofpages:25; journal:NATURE REVIEWS. ENDOCRINOLOGY; http://hdl.handle.net/2318/1680489Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85049131329; http://www.nature.com/nrendo/index.htmlTest; ncbi.nlm.nih.gov/pmc/articles/PMC6541219/
الإتاحة: https://doi.org/10.1038/s41574-018-0042-0Test
http://hdl.handle.net/2318/1680489Test
http://www.nature.com/nrendo/index.htmlTest -
4
المؤلفون: Mantovani, Giovanna, Bastepe, Murat, Monk, David, De Sanctis, Luisa, Thiele, Susanne, Usardi, Alessia, Ahmed, S. Faisal, Bufo, Roberto, Choplin, Timothée, De Filippo, Gianpaolo, Devernois, Guillemette, Eggermann, Thomas, Elli, Francesca M., Freson, Kathleen, Garcia Ramirez, Aurora, Germain-Lee, Emily, Groussin, Lionel, Hamdy, Neveen, Hanna, Patrick, Hiort, Olaf, Jüppner, Harald, Kamenický, Peter, Knight, Nina, Kottler, Marie-Laure, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A., Mäkitie, Outi, Martin, Regina, Martos-Moreno, Gabriel Angel, 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, Agnès
مصطلحات موضوعية: 3. Good health
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4514fa5486eb584412a3da80f0a14334Test
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5دورية أكاديمية
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
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6
المؤلفون: Serap Turan, Eileen M. Shore, Murat Bastepe, Olaf Hiort, Agnès Linglart, Francesca Elli, Roberto Bufo, Guiomar Perez de Nanclares, Michael A. Levine, Beatriz Lecumberri, M. Carola Zillikens, Rebeca Rodado, Vrinda Saraff, Ashley H. Shoemaker, Luisa De Sanctis, Guillemette Devernois, Gianpaolo De Filippo, Aurora Garcia Ramirez, Philip Murray, Susanne Thiele, Outi Mäkitie, Lars Rejnmark, Regina Matsunaga Martin, Manasori Minagawa, Timothee Choplin, Emily L. Germain-Lee, Giovanna Mantovani, Peter Kamenický, Harald Jüppner, Lionel Groussin, Nina Knight, Elvire Le Norcy, Anya Rothenbuhler, Neveen A. T. Hamdy, Robert J. Pignolo, David Monk, Thomas Eggermann, Caroline Silve, Arrate Pereda, Gabriel Á. Martos-Moreno, S Faisal Ahmed, Philip Woods, Patrick Hanna
المساهمون: Erasmus MC other, Internal Medicine, 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, HUS Children and Adolescents, Clinicum, Lastentautien yksikkö, Children's Hospital, University of Helsinki, Helsinki University Hospital Area
المصدر: Hormone Research in Paediatrics, 93(3), 182-196. Karger
Horm Res Paediatr
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, Jüppner, H, Kamenický, P, Knight, N, Le Norcy, E, Lecumberri, B, Levine, M A, Mäkitie, O, Martin, R, Martos-Moreno, G Á, 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
Hormone Research in Paediatrics, 93(3), 182-196. KARGERمصطلحات موضوعية: Pediatrics, Endocrinology, Diabetes and Metabolism, Acrodysostosis, Psychological intervention, Type 2 diabetes, Ossification, Parathyroid hormone, STIMULATORY G-PROTEIN, 0302 clinical medicine, Endocrinology, 3123 Gynaecology and paediatrics, Diagnosis, SKELETAL RESPONSIVENESS, Medicine, Child, Subclinical infection, 030219 obstetrics & reproductive medicine, Brachydactyly, Calcium and phosphate metabolism, Management, 3. Good health, IDENTIFIES PDE4D MUTATIONS, Pseudohypoparathyroidism, Practice Guidelines as Topic, INCREASED PREVALENCE, medicine.symptom, Bone disorders, Consensus, Treatment, Adult, Transition to Adult Care, medicine.medical_specialty, Genetic counseling, PARATHYROID-HORMONE, PROGRESSIVE OSSEOUS HETEROPLASIA, 030209 endocrinology & metabolism, HORMONE-RELEASING-HORMONE, Short stature, Article, 03 medical and health sciences, PSEUDO-PSEUDOHYPOPARATHYROIDISM, Hypothyroidism, Humans, Dwarfism, Pituitary, ALBRIGHT HEREDITARY OSTEODYSTROPHY, business.industry, ENERGY-EXPENDITURE, medicine.disease, Diabetes Mellitus, Type 2, Pediatrics, Perinatology and Child Health, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a731aab723ad975230021f30619d2adTest
https://doi.org/10.1159/000508985Test -
7
المؤلفون: Susanne Thiele, Eileen M. Shore, Luisa De Sanctis, Thomas Eggermann, Serap Turan, Murat Bastepe, Gabriel Á. Martos-Moreno, Aurora Garcia Ramirez, Vrinda Saraff, Nina Knight, Caroline Silve, Outi Mäkitie, Agnès Linglart, Marie Laure Kottler, Emily L. Germain-Lee, Rebecca Rodado, Philip Murray, Peter Kamenický, Lars Rejnmark, Masanori Minagawa, Anya Rothenbuhler, Kathleen Freson, Timothee Choplin, Alessia Usardi, Francesca Elli, Regina Matsunaga Martin, M. Carola Zillikens, Guillemette Devernois, Harald Jüppner, David Monk, Arrate Pereda, Neveen A. T. Hamdy, Gianpaolo de Filippo, Lionel Groussin, Elvire Le Norcy, Robert J. Pignolo, Ashley H. Shoemaker, Giovanna Mantovani, Olaf Hiort, Roberto Bufo, Guiomar Perez de Nanclares, Michael A. Levine, Beatriz Lecumberri, Philip Woods, Patrick Hanna, S Faisal Ahmed
المساهمون: 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., Makitie, 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, Clinicum, Lastentautien yksikkö, Children's Hospital, HUS Children and Adolescents, Internal Medicine, UAM. Departamento de Medicina, UAM. Departamento de Pediatría, Instituto de Investigación del Hospital de La Princesa (IP), Instituto de Investigación Sanitaria Hospital Universitario de La Paz (IdiPAZ), Università degli Studi di Milano = University of Milan (UNIMI), Harvard Medical School [Boston] (HMS), Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), Università degli studi di Torino = University of Turin (UNITO), Lübeck University of Applied Sciences, Centre interdisciplinaire de recherche en biologie (CIRB), Labex MemoLife, École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Collège de France (CdF (institution))-Ecole Superieure de Physique et de Chimie Industrielles de la Ville de Paris (ESPCI Paris), Université Paris sciences et lettres (PSL)-École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University of Glasgow, Italian Progressive Osseous Heteroplasia Association (IPOHA), Service d'endocrinologie pédiatrique [CHU Bicêtre], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Connecticut Children's Medical Center, University of Connecticut (UCONN), AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], Université Paris Descartes - Paris 5 (UPD5), Leiden University Medical Center (LUMC), Universiteit Leiden, Thérapie génique, Génomique et Epigénomique (U 1169), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Endocrine Unit, Massachusetts General Hospital [Boston], Récepteurs stéroïdiens : physiopathologie endocrinienne et métabolique, Université Paris-Sud - Paris 11 (UP11)-IFR93-Institut National de la Santé et de la Recherche Médicale (INSERM), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), Service de Génétique [CHU Caen], Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Pathologies, Imagerie et Biothérapies oro-faciales (EA 2496), Hospital Universitario La Paz, Department of Statistics [West Lafayette], Purdue University [West Lafayette], Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Universidade de São Paulo = University of São Paulo (USP), Chiba University Hospital, Manchester University NHS Foundation Trust (MFT), Bioaraba Health Research Institute, Mayo Clinic [Rochester], Aarhus University Hospital, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Birmingham Children’s Hospital, Vanderbilt University Medical Center [Nashville], Vanderbilt University [Nashville], University of Pennsylvania, Centre de recherche biomédicale Bichat-Beaujon (CRB3), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Marmara University [Kadıköy - İstanbul], Erasmus University Medical Center [Rotterdam] (Erasmus MC), Immunologie et génétique du diabète de type 1, génétique multifactorielle en endocrinologie pédiatrique (U986), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Departments of Medicine and Pediatrics, Department of Pediatrics, University of Turin, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Collège de France (CdF)-PSL Research University (PSL), Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Rheinisch-Westfälische Technische Hochschule Aachen (RWTH), Center for Molecular and Vascular Biology, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Universität zu Lübeck [Lübeck] - University of Lübeck [Lübeck], Endocrine Unit, Department of Medicine, and Pediatric Neprology Unit, MassGeneral Hospital for Children, Servicio de Endocrinología, Hospital Universitario La Paz, Hospital for Children and Adolescents, Helsinki University Central Hospital, Netherlands Genomics Initiative, Netherlands Consortium for Healthy Aging [Leiden, Netherlands] (NCHA), Laboratorio de Genética Molecular, Unidad de Investigación, Hospital de Txagorritxu, University of Milan, École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-École normale supérieure - Paris (ENS Paris), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR93-Université Paris-Sud - Paris 11 (UP11), University of Helsinki, University of São Paulo (USP), University of Pennsylvania [Philadelphia], Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Ecole Superieure de Physique et de Chimie Industrielles de la Ville de Paris (ESPCI Paris), Université Paris sciences et lettres (PSL)-Collège de France (CdF (institution))-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Collège de France (CdF (institution))-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: 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, García Ramirez, A, Germain-Lee, E L, Groussin, L, Hamdy, N, Hanna, P, Hiort, O, Jüppner, H, Kamenický, P, Knight, N, Kottler, M-L, Le Norcy, E, Lecumberri, B, Levine, M A, Mäkitie, O, Martin, R, Martos-Moreno, G Á, 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
Nature reviews / Endocrinology 14(8), 476-500 (2018). doi:10.1038/s41574-018-0042-0
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Nature Reviews Endocrinology, 14(8), 476-500. Nature Publishing Group
Biblos-e Archivo. Repositorio Institucional de la UAM
instname
Nature Reviews Endocrinology
Nature Reviews Endocrinology, 2018, 14 (8), pp.476-500. ⟨10.1038/s41574-018-0042-0⟩
Nature Reviews Endocrinology, Nature Publishing Group, 2018, 14 (8), pp.476-500. ⟨10.1038/s41574-018-0042-0⟩
Nature Reviews Endocrinology, 14(8), 476-500. NATURE PUBLISHING GROUP
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, García Ramirez, A, Germain-Lee, E L, Groussin, L, Hamdy, N, Hanna, P, Hiort, O, Jüppner, H, Kamenický, P, Knight, N, Kottler, M-L, Le Norcy, E, Lecumberri, B, Levine, M A, Mäkitie, O, Martin, R, Martos-Moreno, G Á, 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
Nature reviews. Endocrinology
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, García Ramirez, A, Germain-Lee, E L, Groussin, L, Hamdy, N, Hanna, P, Hiort, O, Jüppner, H, Kamenický, P, Knight, N, Kottler, M-L, Le Norcy, E, Lecumberri, B, Levine, M A, Mäkitie, O, Martin, R, Martos-Moreno, G Á, 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/s41574-018-0042-0Testمصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Delayed Diagnosis, Endocrinology, Diabetes and Metabolism, Endocrinology, Statement (logic), Drug Resistance, Parathyroid hormone, MESH: Risk Assessment, Pseudohypoparathyroidism/diagnosis, STIMULATORY G-PROTEIN, Neonatal Screening/organization & administration, 0302 clinical medicine, MESH: Practice Guidelines as Topic, Program Development, BRACHYDACTYLY TYPE-E, PARATHYROID-HORMONE RESISTANCE, Disorders, IMPRINTING CONTROL ELEMENT, MESH: Infant, Newborn, MESH: Pseudohypoparathyroidism, MESH: Genetic Predisposition to Disease, Prognosis, 3. Good health, Diabetes and Metabolism, MESH: Parathyroid Hormone, IDENTIFIES PDE4D MUTATIONS, Parathyroid Hormone, NUCLEOTIDE REGULATORY PROTEIN, Consensus statement, Pseudohypoparathyroidism, Practice Guidelines as Topic, MESH: Drug Resistance, Female, medicine.symptom, Parathyroid Hormone/therapeutic use, medicine.medical_specialty, Consensus, Delayed Diagnosis/adverse effects, Medicina, 030209 endocrinology & metabolism, PROGRESSIVE OSSEOUS HETEROPLASIA, Parathyroid Hormone Resistance, Risk Assessment, Short stature, PATERNAL UNIPARENTAL DISOMY, Article, MESH: Prognosis, Growth hormone deficiency, GNAS INACTIVATING MUTATIONS, 03 medical and health sciences, Neonatal Screening, BECKWITH-WIEDEMANN SYNDROME, MESH: Program Development, medicine, Humans, Genetic Predisposition to Disease, MESH: Consensus, MESH: Neonatal Screening, [SDV.GEN]Life Sciences [q-bio]/Genetics, GS-ALPHA-GENE, MESH: Humans, ALBRIGHT HEREDITARY OSTEODYSTROPHY, business.industry, Brachydactyly, Infant, Newborn, Type 2 Diabetes Mellitus, medicine.disease, MESH: Male, MESH: Delayed Diagnosis, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Diagnosis and management, DEPENDENT PROBE AMPLIFICATION, Family medicine, 3121 General medicine, internal medicine and other clinical medicine, business, MESH: Female, Neurocognitive
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