المؤلفون: Jackmann, Natalja, Gustafsson, Jan, Utriainen, Pauliina, Magnusson, Per, Harila, Arja, Atanasova, Diana, Rinaldo, Carina, Frisk, Per, Mäkitie, Outi

مصطلحات موضوعية: biochemical markers of bone turnover: bone modeling and remodeling, tumor-induced bone disease: cancer, other: diseases and disorders of/related to bone, Pediatrics, Pediatrik, Cancer and Oncology, Cancer och onkologi, Hematology, Hematologi

وصف الملف: application/pdf

العلاقة: 2024, 8:4; JBMR Plus, 2024, 8:4; orcid:0000-0003-2817-3299; orcid:0000-0002-7540-438x; orcid:0000-0003-2767-5828; orcid:0000-0002-4547-001X; http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-527482Test; PMID 38523666; ISI:001203149800001

الإتاحة: https://doi.org/10.1093/jbmrpl/ziae017Test
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-527482Test

المؤلفون: Costa, Adriana, Martins, Andreia, Machado, Catarina, Lundberg, Elena, Nilsson, Ola, Wang, Fan, Costantini, Alice, Tournis, Symeon, Höppner, Jakob, Grasemann, Corinna, Mäkitie, Outi

مصطلحات موضوعية: Early-onset osteoporosis, Fragility fractures, Osteoporosis in children, PLS3, Medical Genetics, Medicinsk genetik, Orthopaedics, Ortopedi

وصف الملف: application/pdf

العلاقة: Calcified Tissue International, 0171-967X, 2024, 114, s. 57-170; http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-217719Test; PMID 38043102; ISI:001121900600003; Scopus 2-s2.0-85178465247

الإتاحة: https://doi.org/10.1007/s00223-023-01162-4Test
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-217719Test

المؤلفون: Knol, Maria J, Poot, Raymond A, Evans, Tavia E, Satizabal, Claudia L, Mishra, Aniket, Sargurupremraj, Muralidharan, van der Auwera, Sandra, Duperron, Marie-Gabrielle, Jian, Xueqiu, Hostettler, Isabel C, van Dam-Nolen, Dianne H K, Lamballais, Sander, Pawlak, Mikolaj A, Lewis, Cora E, Carrion-Castillo, Amaia, van Erp, Theo G M, Reinbold, Céline S, Shin, Jean, Scholz, Markus, HÃ¥berg, Asta K, Kämpe, Anders, Li, Gloria H Y, Avinun, Reut, Atkins, Joshua R, Hsu, Fang-Chi, Amod, Alyssa R, Lam, Max, Tsuchida, Ami, Teunissen, Mariël W A, Aygün, Nil, Patel, Yash, Liang, Dan, Beiser, Alexa S, Beyer, Frauke, Bis, Joshua C, Bos, Daniel, Bryan, R Nick, Bülow, Robin, Caspers, Svenja, Catheline, Gwenaëlle, Cecil, Charlotte A M, Dalvie, Shareefa, Dartigues, Jean-François, DeCarli, Charles, Enlund-Cerullo, Maria, Ford, Judith M, Franke, Barbara, Freedman, Barry I, Friedrich, Nele, Green, Melissa J, Haworth, Simon, Helmer, Catherine, Hoffmann, Per, Homuth, Georg, Ikram, M Kamran, Jack, Clifford R, Jahanshad, Neda, Jockwitz, Christiane, Kamatani, Yoichiro, Knodt, Annchen R, Li, Shuo, Lim, Keane, Longstreth, W T, Macciardi, Fabio, Mäkitie, Outi, Mazoyer, Bernard, Medland, Sarah E, Miyamoto, Susumu, Moebus, Susanne, Mosley, Thomas H, Muetzel, Ryan, Mühleisen, Thomas W, Nagata, Manabu, Nakahara, Soichiro, Palmer, Nicholette D, Pausova, Zdenka, Preda, Adrian, Quidé, Yann, Reay, William R, Roshchupkin, Gennady V, Schmidt, Reinhold, Schreiner, Pamela J, Setoh, Kazuya, Shapland, Chin Yang, Sidney, Stephen, St Pourcain, Beate, Stein, Jason L, Tabara, Yasuharu, Teumer, Alexander, Uhlmann, Anne, van der Lugt, Aad, Vernooij, Meike W, Werring, David J, Windham, B Gwen, Witte, A Veronica, Wittfeld, Katharina, Yang, Qiong, Yoshida, Kazumichi, Brunner, Han G, Le Grand, Quentin, Sim, Kang, Stein, Dan J, Bowden, Donald W, Cairns, Murray J, Hariri, Ahmad R, Cheung, Ching-Lung, Andersson, Sture, Villringer, Arno, Paus, Tomas, Cichon, Sven, Calhoun, Vince D, Crivello, Fabrice, Launer, Lenore J, White, Tonya, Koudstaal, Peter J, Houlden, Henry, Fornage, Myriam, Matsuda, Fumihiko, Grabe, Hans J, Ikram, M Arfan, Debette, Stéphanie, Thompson, Paul M, Seshadri, Sudha, Adams, Hieab H H

المصدر: Journal Articles

مصطلحات موضوعية: cancer, genetics, genome-wide association study, head circumference, head size, intracranial volume, meta-analysis, Genetics and Genomics, Life Sciences, Medicine and Health Sciences, Other Genetics and Genomics, Public Health

وصف الملف: application/pdf

العلاقة: https://digitalcommons.library.tmc.edu/uthsph_docs/261Test; https://digitalcommons.library.tmc.edu/context/uthsph_docs/article/1250/viewcontent/PIIS2666379124001988.pdfTest

الإتاحة: https://digitalcommons.library.tmc.edu/uthsph_docs/261Test
https://digitalcommons.library.tmc.edu/context/uthsph_docs/article/1250/viewcontent/PIIS2666379124001988.pdfTest

المؤلفون: Costantini, Alice, Alm, Jessica J, Tonelli, Francesca, Valta, Helena, Huber, Céline, Tran, Anh N, Daponte, Valentina, Kirova, Nadi, Kwon, Yong-Uk, Bae, Jung Yun, Chung, Woo Yeong, Tan, Shengjiang, Sznajer, Yves, Nishimura, Gen, Näreoja, Tuomas, Warren, Alan J, Cormier-Daire, Valérie, Kim, Ok-Hwa, Forlino, Antonella, Cho, Tae-Joon, Mäkitie, Outi

المساهمون: UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de référence neuromusculaire, UCL - SSS/IREC/SLUC - Pôle St.-Luc

المصدر: Journal of bone and mineral research, Vol. 36, no. 2, p. 283-297 (2021)

مصطلحات موضوعية: Animals, Biological Variation, Population, Humans, Neoplasm Proteins, Osteochondrodysplasias, Pedigree, Ribosomal Proteins, Spine, Zebrafish, CRISPR-CAS9, RPL13, Incomplete penetrance, Ribosomopathy, Spondyloepimetaphyseal dysplasia, Variable expressivity

العلاقة: boreal:261829; http://hdl.handle.net/2078.1/261829Test; info:pmid/32916022; urn:ISSN:0884-0431; urn:EISSN:1523-4681

الإتاحة: https://doi.org/10.1002/jbmr.4177Test
http://hdl.handle.net/2078.1/261829Test

المؤلفون: Costantini, Alice, Alm, Jessica J, Tonelli, Francesca, Valta, Helena, Huber, Céline, Tran, Anh N, Daponte, Valentina, Kirova, Nadi, Kwon, Yong-Uk, Bae, Jung Yun, Chung, Woo Yeong, Tan, Shengjiang, Sznajer, Yves, Nishimura, Gen, Näreoja, Tuomas, Warren, Alan J, Cormier-Daire, Valérie, Kim, Ok-Hwa, Forlino, Antonella, Cho, Tae-Joon, Mäkitie, Outi

المساهمون: UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de référence neuromusculaire, UCL - SSS/IREC/SLUC - Pôle St.-Luc

المصدر: Journal of bone and mineral research, Vol. 36, no. 2, p. 283-297 (2021)

مصطلحات موضوعية: Animals, Biological Variation, Population, Humans, Neoplasm Proteins, Osteochondrodysplasias, Pedigree, Ribosomal Proteins, Spine, Zebrafish, CRISPR-CAS9, RPL13, Incomplete penetrance, Ribosomopathy, Spondyloepimetaphyseal dysplasia, Variable expressivity

العلاقة: boreal:261829; http://hdl.handle.net/2078.1/261829Test; info:pmid/32916022; urn:ISSN:0884-0431; urn:EISSN:1523-4681

الإتاحة: https://doi.org/10.1002/jbmr.4177Test
http://hdl.handle.net/2078.1/261829Test

المؤلفون: Bishop, Nick, Adami, Silvano, Ahmed, S Faisal, Antón, Jordi, Arundel, Paul, Burren, Christine P., Devogelaer, Jean-Pierre, Hangartner, Thomas, Hosszú, Eva, Lane, Joseph M, Lorenc, Roman, Mäkitie, Outi, Munns, Craig F, Paredes, Ana, Pavlov, Helene, Plotkin, Horacio, Raggio, Cathleen L., Reyes, Maria Loreto, Schoenau, Eckhard, Semler, Oliver, Sillence, David O., Steiner, Robert D.

المساهمون: UCL - SSS/IREC/RUMA - Pôle de Pathologies rhumatismales, UCL - (SLuc) Service de rhumatologie

المصدر: The Lancet, Vol. 382, no. 9902, p. 1424-1432 (2013)

العلاقة: boreal:164058; http://hdl.handle.net/2078.1/164058Test; info:pmid/23927913; urn:ISSN:0140-6736; urn:EISSN:1474-547X

الإتاحة: https://doi.org/10.1016/S0140-6736Test(13)61091-0
http://hdl.handle.net/2078.1/164058Test

المؤلفون: Bishop, Nick, Adami, Silvano, Ahmed, S Faisal, Antón, Jordi, Arundel, Paul, Burren, Christine P., Devogelaer, Jean-Pierre, Hangartner, Thomas, Hosszú, Eva, Lane, Joseph M, Lorenc, Roman, Mäkitie, Outi, Munns, Craig F, Paredes, Ana, Pavlov, Helene, Plotkin, Horacio, Raggio, Cathleen L., Reyes, Maria Loreto, Schoenau, Eckhard, Semler, Oliver, Sillence, David O., Steiner, Robert D.

المساهمون: UCL - SSS/IREC/RUMA - Pôle de Pathologies rhumatismales, UCL - (SLuc) Service de rhumatologie

المصدر: The Lancet, Vol. 382, no. 9902, p. 1424-1432 (2013)

العلاقة: boreal:164058; http://hdl.handle.net/2078.1/164058Test; info:pmid/23927913; urn:ISSN:0140-6736; urn:EISSN:1474-547X

الإتاحة: https://doi.org/10.1016/S0140-6736Test(13)61091-0
http://hdl.handle.net/2078.1/164058Test

المؤلفون: Korvala, Johanna, Jüppner, Harald, Mäkitie, Outi, Sochett, Etienne, Schnabel, Dirk, Mora, Stefano, Bartels, Cynthia F, Warman, Matthew L, Deraska, Donald, Cole, William G, Hartikka, Heini, Ala-Kokko, Leena, Männikkö, Minna

المصدر: Department of Pathology & Laboratory Medicine

مصطلحات موضوعية: Animals, Bone Density, CHO Cells, Cricetinae, Cricetulus, Genes, Reporter, Heterozygote, Humans, Low Density Lipoprotein Receptor-Related Protein-5, Mutation, Missense, Osteogenesis Imperfecta, Osteoporosis, Phenotype, Real-Time Polymerase Chain Reaction, Receptors, Serotonin, Transfection, Tryptophan Hydroxylase, Wnt Proteins, Wnt Signaling Pathway, Department of Pathology and Laboratory Medicine, Medicine and Health Sciences

العلاقة: https://scholarlyworks.lvhn.org/pathology-laboratory-medicine/1331Test; https://pubmed.ncbi.nlm.nih.gov/22487062Test/

الإتاحة: https://scholarlyworks.lvhn.org/pathology-laboratory-medicine/1331Test
https://pubmed.ncbi.nlm.nih.gov/22487062Test/

المؤلفون: Korvala, Johanna, Löija, Marika, Mäkitie, Outi, Sochett, Etienne, Jüppner, Harald, Schnabel, Dirk, Mora, Stefano, Cole, William G, Ala-Kokko, Leena, Männikkö, Minna

المصدر: Department of Pathology & Laboratory Medicine

مصطلحات موضوعية: Adolescent, Animals, CHO Cells, Case-Control Studies, Child, Cricetinae, Cricetulus, Female, Genetic Loci, Genetic Predisposition to Disease, Heterozygote, Humans, Intercellular Signaling Peptides and Proteins, Male, Osteoporosis, Polymorphism, Genetic, Transcription, Wnt Signaling Pathway, Wnt3A Protein, Department of Pathology and Laboratory Medicine, Medicine and Health Sciences

العلاقة: https://scholarlyworks.lvhn.org/pathology-laboratory-medicine/1334Test; https://pubmed.ncbi.nlm.nih.gov/22789636Test/

الإتاحة: https://scholarlyworks.lvhn.org/pathology-laboratory-medicine/1334Test
https://pubmed.ncbi.nlm.nih.gov/22789636Test/

المؤلفون: Jakkula, Eveliina, Mäkitie, Outi, Czarny-Ratajczak, Malwina, Jackson, Gail C, Damignani, Rita, Susic, Miki, Briggs, Michael D, Cole, William G, Ala-Kokko, Leena

المصدر: Department of Pathology & Laboratory Medicine

مصطلحات موضوعية: Adolescent, Adult, Anion Transport Proteins, Carrier Proteins, Cartilage Oligomeric Matrix Protein, Child, Preschool, Collagen Type IX, DNA Mutational Analysis, Extracellular Matrix Proteins, Female, Glycoproteins, Humans, Male, Matrilin Proteins, Membrane Transport Proteins, Mutation, Osteochondrodysplasias, Phenotype, RNA, Radiography, Sulfate Transporters, Department of Pathology and Laboratory Medicine, Medicine and Health Sciences

العلاقة: https://scholarlyworks.lvhn.org/pathology-laboratory-medicine/1294Test; https://pubmed.ncbi.nlm.nih.gov/15523498Test/

الإتاحة: https://scholarlyworks.lvhn.org/pathology-laboratory-medicine/1294Test
https://pubmed.ncbi.nlm.nih.gov/15523498Test/