المؤلفون: Jon H Tobias, Rachel K Crowley, Malachi J. McKenna, Steff Lewis, Giovanni Carlo Isaia, Lakshminarayan R. Ranganath, Núria Guañabens, Geoffrey C. Nicholson, Stuart H. Ralston, Owen Cronin, Anne Horne, Peter Selby, Markus J. Seibel, Steven Young-Min, Mark A. Kotowicz, John P. Walsh, Laura Forsyth, Kirsteen Goodman, Rama Chandra, Catriona Keerie, Geeta Hampson, Josep Blanch Rubio, Mary Porteous, N. Gilchrist, Deepak Subedi, Jean-Pierre Devogelaer, Luigi Gennari, Emma L. Duncan, Allan Walker, Roseanne Cetnarskyj, R. Nuti, Jonathan Tang, Marco Di Stefano, Shu Ho, Gabor Major, Anne Durnez, Maria Luisa Brandi, William D. Fraser, Javier del Pino-Montes

المصدر: Journal of Bone and Mineral Research
Cronin, O, Subedi, D, Forsyth, L, Goodman, K, Lewis, S C, Keerie, C, Walker, A, Porteous, M, Cetnarskyj, R, Lakshminarayan, R, Selby, P, Hampson, G, Chandra, R, Ho, S, Tobias, J, Min, S Y, McKenna, M, Crowley, R, Fraser, W D, Tang, J, Gennari, L, Nuti, R, Brandi, M-L, Del Pino-Montes, J, Devogelaer, J-P, Durnez, A, Isaia, G C, Di Stefano, M, Rubio, J B, Guanabens, N, Seibel, M, Walsh, J P, Kotowicz, M A, Nicholson, G C, Duncan, E L, Major, G, Horne, A, Gilchrist, N & Ralston, S H 2020, ' Characteristics of early Paget's disease in SQSTM1 mutation carriers : Baseline analysis of the ZiPP study cohort ', Journal of Bone and Mineral Research . https://doi.org/10.1002/jbmr.4007

مصطلحات موضوعية: Male, 0301 basic medicine, RADIONUCLIDE IMAGING, medicine.medical_specialty, GENETICS, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Disease, Zoledronic Acid, Asymptomatic, Gastroenterology, Bone remodeling, 03 medical and health sciences, 0302 clinical medicine, Sequestosome 1, Internal medicine, Sequestosome-1 Protein, medicine, Humans, SQSTM1, Orthopedics and Sports Medicine, education, Adaptor Proteins, Signal Transducing, education.field_of_study, business.industry, PAGET's DISEASE OF BONE, Middle Aged, Osteitis Deformans, medicine.disease, 3. Good health, Natural history, 030104 developmental biology, Paget's disease of bone, Zoledronic acid, Mutation, Cohort, Female, medicine.symptom, business, medicine.drug

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5023dc7a49a98340038dc8ad8db6683
https://doi.org/10.1002/jbmr.4007

المؤلفون: Scott Wilson, Shelby Mullin, Jiake Xu, Kun Zhu, John P. Walsh, Benjamin H. Mullin, Suzanne J. Brown, Frank Dudbridge, Nathan J. Pavlos, Jennifer Tickner

المصدر: Journal of Bone and Mineral Research. 33:1044-1051

مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, Linkage disequilibrium, Endocrinology, Diabetes and Metabolism, Osteoporosis, Chromosome, Genome-wide association study, Single-nucleotide polymorphism, Computational biology, Biology, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Expression quantitative trait loci, Multiple comparisons problem, medicine, Orthopedics and Sports Medicine, Gene, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::af6a7a18fa188cd30b1528d2e962b125
https://doi.org/10.1002/jbmr.3412

المؤلفون: Kun Zhu, Joanne A. McVeigh, John P. Walsh, Stephen J. Lye, Leon Straker, Craig E. Pennell, Jenny Mountain

المصدر: Journal of Bone and Mineral Research. 31:2032-2040

مصطلحات موضوعية: Gerontology, Peak bone mass, Longitudinal study, Pregnancy, Bone density, business.industry, Endocrinology, Diabetes and Metabolism, Osteoporosis, 030209 endocrinology & metabolism, medicine.disease, humanities, 03 medical and health sciences, 0302 clinical medicine, Cohort, medicine, Orthopedics and Sports Medicine, 030212 general & internal medicine, Young adult, business, human activities, Demography, Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2c15a9f8c8fa09e88f2b5dc8b77cb39c
https://doi.org/10.1002/jbmr.2890

المؤلفون: John P. Walsh, Jenny Mountain, Andrew J. O. Whitehouse, Craig E. Pennell, Prue H. Hart, Kun Zhu, Merci Kusel, Stephen J. Lye

المصدر: Journal of Bone and Mineral Research. 29:1088-1095

مصطلحات موضوعية: Peak bone mass, Bone mineral, medicine.medical_specialty, Pregnancy, business.industry, Offspring, Endocrinology, Diabetes and Metabolism, medicine.disease, vitamin D deficiency, Endocrinology, Internal medicine, Lean body mass, Vitamin D and neurology, Medicine, Orthopedics and Sports Medicine, Sample collection, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6b6060cd5a3b3725231668085d11cb28
https://doi.org/10.1002/jbmr.2138

المؤلفون: Francesca Giusti, Teresa Esposito, Daniela Merlotti, Micaela Rios Visconti, Stuart H. Ralston, Nerea Alonso, Luigi Gennari, Fernando Gianfrancesco, Marco Di Stefano, L.C. Ward, Giancarlo Isaia, Rogelio González-Sarmiento, John P. Walsh, Omar M. E. Albagha, Maria Luisa Brandi, Sachin Wani, Thomas Ratajczak, William D. Fraser, Luis Corral-Gudino, Javier del Pino-Montes, Domenico Rendina, Kirsteen Goodman, Sarah L. Rea

المصدر: Journal of Bone and Mineral Research. 28:2338-2346

مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Genome-wide association study, macromolecular substances, Disease, medicine.disease, Bioinformatics, Paget s disease, 03 medical and health sciences, 0302 clinical medicine, Paget's disease of bone, Zoledronic acid, Quality of life, Internal medicine, medicine, Orthopedics and Sports Medicine, Allele, business, 030304 developmental biology, medicine.drug, Genetic association

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::58fa2430480d2c13d3f4dcf18e95ec86
https://doi.org/10.1002/jbmr.1975

المؤلفون: Guoqin Su, Susan Cafoncelli, Paul D. Miller, William D. Fraser, Javier del Pino-Montes, Ian R. Reid, Christina Bucci-Rechtweg, Jacques P. Brown, Kenneth W. Lyles, David J. Hosking, John P. Walsh

المصدر: Journal of Bone and Mineral Research. 26:2261-2270

مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Reference range, Kaplan-Meier Estimate, Zoledronic Acid, Gastroenterology, Bone and Bones, Bone remodeling, Recurrence, Internal medicine, Paget Disease, Humans, Medicine, Orthopedics and Sports Medicine, Infusions, Intravenous, Radionuclide Imaging, Aged, Randomized Controlled Trials as Topic, Bone Density Conservation Agents, Diphosphonates, business.industry, Remission Induction, Bone markers, Imidazoles, Alkaline Phosphatase, Osteitis Deformans, Confidence interval, Treatment Outcome, Zoledronic acid, Endocrinology, Relative risk, Quality of Life, Alkaline phosphatase, Bone Remodeling, business, Biomarkers, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6df9fa86f397a7eb4996c01fea0822c
https://doi.org/10.1002/jbmr.438

المؤلفون: L.C. Ward, Jiake Xu, Robert Layfield, Barry Shaw, John P. Walsh, Thomas Ratajczak, G. Neil Kent, Sarah L. Rea, Bryan K. Ward, Aaron L. Magno

المصدر: Journal of Bone and Mineral Research. 24:1216-1223

مصطلحات موضوعية: Adult, Male, Genotype, Ubiquitin binding, Endocrinology, Diabetes and Metabolism, Mutant, Mutation, Missense, Biology, Gene mutation, medicine.disease_cause, Cell Line, Sequestosome 1, Sequestosome-1 Protein, Prevalence, medicine, Humans, Orthopedics and Sports Medicine, education, Adaptor Proteins, Signal Transducing, Aged, Genetics, Mutation, education.field_of_study, Ubiquitin, Point mutation, Australia, NF-kappa B, Wild type, Middle Aged, Osteitis Deformans, Molecular biology, Pedigree, Protein Structure, Tertiary, Phenotype, Amino Acid Substitution, Female, Protein Binding, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70c7aaeed1959d89f211e095dcdc3feb
https://doi.org/10.1359/jbmr.090214

المؤلفون: Jiake Xu, L.C. Ward, James H. Steer, Bryan K. Ward, Thomas Ratajczak, Kirk H. M. Yip, G. Neil Kent, Sarah L. Rea, John P. Walsh

المصدر: Journal of Bone and Mineral Research. 21:1136-1145

مصطلحات موضوعية: Adult, Male, Ubiquitin binding, Endocrinology, Diabetes and Metabolism, Mutant, Osteoclasts, Transfection, medicine.disease_cause, Bone resorption, Sequestosome 1, Osteoclast, Chlorocebus aethiops, Sequestosome-1 Protein, medicine, Animals, Humans, Point Mutation, Orthopedics and Sports Medicine, Bone Resorption, education, Adaptor Proteins, Signal Transducing, Mutation, education.field_of_study, Membrane Glycoproteins, Receptor Activator of Nuclear Factor-kappa B, biology, Point mutation, RANK Ligand, NF-kappa B, Proteins, Cell Differentiation, Osteitis Deformans, Molecular biology, Protein Structure, Tertiary, medicine.anatomical_structure, RANKL, COS Cells, Immunology, Codon, Terminator, biology.protein, Carrier Proteins, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a4c762dcdb36b9cb48f8dd746e16421
https://doi.org/10.1359/jbmr.060405

المؤلفون: Anna Daroszewska, Lynne J. Hocking, Stuart H. Ralston, John P. Walsh, Tim Cundy, Geoff Nicholson, Christian Meier, M. Hooper, William D. Fraser, Gavin Lucas

المصدر: Journal of Bone and Mineral Research. 20:227-231

مصطلحات موضوعية: Male, Genotype, Endocrinology, Diabetes and Metabolism, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Sequestosome 1, Sequestosome-1 Protein, Odds Ratio, medicine, Humans, Orthopedics and Sports Medicine, Promoter Regions, Genetic, education, 3' Untranslated Regions, Allele frequency, Alleles, Adaptor Proteins, Signal Transducing, DNA Primers, Genetics, education.field_of_study, Polymorphism, Genetic, Models, Genetic, Ubiquitin, Genetic heterogeneity, Haplotype, Proteins, Exons, Osteitis Deformans, medicine.disease, Founder Effect, Introns, United Kingdom, Protein Structure, Tertiary, Paget's disease of bone, Haplotypes, Mutation, Female, Software, Founder effect

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48dcd300fca2e0289ee2949069e97774
https://doi.org/10.1359/jbmr.041106