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: Kelly, Michy P., Heckman, Pim R. A., Havekes, Robbert

المصدر: Kelly , M P , Heckman , P R A & Havekes , R 2020 , ' Genetic manipulation of cyclic nucleotide signaling during hippocampal neuroplasticity and memory formation ' , Progress in Neurobiology , vol. 190 , 101799 . https://doi.org/10.1016/j.pneurobio.2020.101799Test

مصطلحات موضوعية: Cyclic nucleotides, Genetic models, Memory, Neuroplasticity, Hippocampus, Phosphodiesterases, LONG-TERM POTENTIATION, PROTEIN-KINASE-A, RESONANCE ENERGY-TRANSFER, TYPE-1 ADENYLYL-CYCLASE, DEPENDENT SYNAPTIC PLASTICITY, PHOSPHODIESTERASE 11A PDE11A, IDENTIFIES PDE4D MUTATIONS, NITRIC-OXIDE, MICE DEFICIENT, VENTRAL HIPPOCAMPUS

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/ff0bc3d3-bbb6-46bf-be11-beb59bfda448Test

الإتاحة: https://doi.org/10.1016/j.pneurobio.2020.101799Test
https://hdl.handle.net/11370/ff0bc3d3-bbb6-46bf-be11-beb59bfda448Test
https://research.rug.nl/en/publications/ff0bc3d3-bbb6-46bf-be11-beb59bfda448Test
https://pure.rug.nl/ws/files/129352376/1_s2.0_S030100822030054X_main.pdfTest

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: Pereda Aguirre, Arrate, Garin Elcoro, Intza, Spanish Network for Imprinting Disorders, Pérez de Nanclares Leal, Guiomar

مصطلحات موضوعية: brachydactyly, pseudohypoparathyroidism, albright's hereditary osteodystrophy, hormone resistance, short stature, brachydactyly type-e, rhino-phalangeal-syndrome, autosomal-dominant hypertension, identifies pde4d mutations, growth-hormone deficiency, langer-giedion-syndrome, trichorhinophalangeal syndrome, severe osteoporosis, mental-retardation

العلاقة: info:eu-repo/grantAgreement/MINECO/PI13/00467; https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-018-0530-zTest; BMC Medical Genetics 19 : (2018) // Article ID 32; http://hdl.handle.net/10810/32345Test

الإتاحة: https://doi.org/10.1186/s12881-018-0530-zTest
http://hdl.handle.net/10810/32345Test

المساهمون: Thiele, Susanne, Mantovani, Giovanna, Barlier, Anne, Boldrin, Valentina, Bordogna, Paolo, De Sanctis, Luisa, Elli, Francesca M., Freson, Kathleen, Garin, Intza, Grybek, Virginie, Hanna, Patrick, Izzi, Benedetta, Hiort, Olaf, Lecumberri, Beatriz, Pereda, Arrate, Saraff, Vrinda, Silve, Caroline, Turan, Serap, Usardi, Alessia, Werner, Ralf, de Nanclares, Guiomar Perez, Linglart, Agnes

مصطلحات موضوعية: ALBRIGHTS HEREDITARY OSTEODYSTROPHY, PROGRESSIVE OSSEOUS HETEROPLASIA, STIMULATORY G-PROTEIN, GS-ALPHA GENE, PARATHYROID-HORMONE RESISTANCE, NUCLEOTIDE REGULATORY PROTEIN, PATERNAL UNIPARENTAL DISOMY, IDENTIFIES PDE4D MUTATIONS, IMPRINTING CONTROL ELEMENT, GNAS EPIGENETIC DEFECTS

وصف الملف: application/pdf

العلاقة: EUROPEAN JOURNAL OF ENDOCRINOLOGY; https://hdl.handle.net/11424/241509Test; WOS:000386915600001

الإتاحة: https://doi.org/10.1530/EJE-16-0107Test
https://hdl.handle.net/11424/241509Test

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. KARGER

مصطلحات 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

المصدر: Progress in Neurobiology. 190

مصطلحات موضوعية: NITRIC-OXIDE, MICE DEFICIENT, Cyclic nucleotides, PHOSPHODIESTERASE 11A PDE11A, Genetic models, RESONANCE ENERGY-TRANSFER, Hippocampus, TYPE-1 ADENYLYL-CYCLASE, DEPENDENT SYNAPTIC PLASTICITY, IDENTIFIES PDE4D MUTATIONS, VENTRAL HIPPOCAMPUS, Memory, Phosphodiesterases, Neuroplasticity, LONG-TERM POTENTIATION, PROTEIN-KINASE-A

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dris___01423::632e49d1b15cfdce84c3a477caafbe72Test
https://doi.org/10.1016/j.pneurobio.2020.101799Test

المؤلفون: Pim R. A. Heckman, Robbert Havekes, Michy P. Kelly

المصدر: Progress in neurobiology. 190

مصطلحات موضوعية: 0301 basic medicine, Cyclic nucleotides, Hippocampus, PHOSPHODIESTERASE 11A PDE11A, Hippocampal formation, Biology, RESONANCE ENERGY-TRANSFER, DEPENDENT SYNAPTIC PLASTICITY, 03 medical and health sciences, Cyclic nucleotide, chemistry.chemical_compound, 0302 clinical medicine, Memory, Neuroplasticity, Genetic model, Animals, Humans, PROTEIN-KINASE-A, NITRIC-OXIDE, Neuronal Plasticity, MICE DEFICIENT, General Neuroscience, Phosphodiesterase, Long-term potentiation, Genetic models, TYPE-1 ADENYLYL-CYCLASE, IDENTIFIES PDE4D MUTATIONS, VENTRAL HIPPOCAMPUS, 030104 developmental biology, chemistry, Phosphodiesterases, Synaptic plasticity, LONG-TERM POTENTIATION, Nucleotides, Cyclic, Neuroscience, 030217 neurology & neurosurgery, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb57abbbfd4d6250c85a836f699bbb29Test
https://pubmed.ncbi.nlm.nih.gov/32360536Test

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/s41574-018-0042-0Test

مصطلحات 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

وصف الملف: application/pdf; Print

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e475f36848351c946f612b714c777b9fTest
https://pure.au.dk/ws/files/167612861/s41574_018_0042_0.pdfTest

المؤلفون: AMPARO SANCHIS CALVO, Arrate Pereda, Isolina Riaño-Galan, Guiomar Perez de Nanclares, Lucia Garzon Lorenzo, Loreto Martorell, Juan de Dios García Díaz, Saoud Tahsin Swafiri Swafiri, Fiona Blanco-Kelly, Maria Juliana Ballesta Martinez

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-10 (2018)
Addi. Archivo Digital para la Docencia y la Investigación
instname

مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Gene Dosage, 030105 genetics & heredity, Langer–Giedion syndrome, GTP-Binding Protein alpha Subunits, Gs, Child, identifies pde4d mutations, Albright's hereditary osteodystrophy, growth-hormone deficiency, Genetics (clinical), langer-giedion-syndrome, Genetics, biology, medicine.diagnostic_test, Brachydactyly, brachydactyly, pseudohypoparathyroidism, autosomal-dominant hypertension, trichorhinophalangeal syndrome, DNA-Binding Proteins, Phenotype, Child, Preschool, Pseudohypoparathyroidism, Female, hormone resistance, Research Article, Adult, lcsh:Internal medicine, lcsh:QH426-470, Adolescent, Cyclic AMP-Dependent Protein Kinase RIalpha Subunit, Diagnosis, Differential, 03 medical and health sciences, GNAS complex locus, medicine, Chromogranins, severe osteoporosis, Humans, Genetic Testing, Hormone resistance, lcsh:RC31-1245, rhino-phalangeal-syndrome, Genetic testing, business.industry, Parathyroid Hormone-Related Protein, Infant, medicine.disease, Cyclic Nucleotide Phosphodiesterases, Type 4, short stature, Repressor Proteins, lcsh:Genetics, Short stature, brachydactyly type-e, Genetic Loci, albright's hereditary osteodystrophy, mental-retardation, Mutation, biology.protein, Albright’s hereditary osteodystrophy, Differential diagnosis, business, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7542cf0f40f9c8d56abd953920ccac7fTest
https://pubmed.ncbi.nlm.nih.gov/29499646Test