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1
المؤلفون: Raoul C.M. Hennekam, Tim Cundy, E. Steichen-Gersdorf, Shauna Heeger, J. A. Batch, Andrea Superti-Furga, Francis H. Glorieux, Leena Peltonen, R. B. Slee, E. Lemyre, A. Kohlschuetter, Bjorn R. Olsen, W. Swoboda, A. Jans, M. J. van den Boogaard, Bernhard Zabel, Konrad Oexle, Graeme C.M. Black, M. Zacharin, B. Floege, Han G. Brunner, Rajkumar Ramesar, Wafaa M. Suwairi, Sergio Roman-Roman, Jose Marcelino, C. Borrone, Anthony M. Reginato, J. Allgrove, Beth A. Sullivan, A. De Paepe, Matthew L. Warman, H. Somer, Beat Steinmann, M. Arslan-Kirchner, Georges Rawadi, W. Van Hul, K. Keppler-Noreuil, W. N. Adkins, G. Sabatakos, Bruno Dallapiccola, Chong Ae Kim, Naomi Fukai, Dorit Lev, Tatsuo Hirose, Miikka Vikkula, Marcela Votruba, Teresa Garcia, M. Lambert, M. L. Halfhide, R. G. Boles, Roland Baron, G. F. Carle, H. W. Wang, L. M. Boon, M. Romanengo, Harald Jüppner, T. Letteboer, Barbara Hall, Peter Beighton, Yaoqin Gong, Didier Lacombe, Suneel S. Apte
المساهمون: Génétique et signalisation moléculaire (GSM), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre Hospitalier Universitaire de Nice (CHU Nice)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Génétique et pathologies moléculaires (GPM), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Génétique, physiopathologie et ingénierie du tissu osseux (GéPITOS), Université Nice Sophia Antipolis (... - 2019) (UNS), Centre National de la Recherche Scientifique (CNRS)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA), Other departments
المصدر: Cell
Cell, 2001, 107 (4), pp.513-23
Cell, 107, 513--23
Cell, Elsevier, 2001, 107 (4), pp.513-23
Cell, 107(4), 513-523. Cell Press
Cell, 107, 4, pp. 513--23مصطلحات موضوعية: Male, Osteoporosis, Dishevelled Proteins, Bone Morphogenetic Protein 2, Wnt2 Protein, Mesoderm, MESH: Recombinant Proteins, Mice, MESH: Animals, Outbred Strains, 0302 clinical medicine, Transforming Growth Factor beta, MESH: Child, MESH: Animals, MESH: Proteins, Eye Abnormalities, Child, 0303 health sciences, MESH: Mesoderm, Wnt signaling pathway, MESH: Wnt Proteins, MESH: COS Cells, Child, Preschool, COS Cells, medicine.medical_specialty, Recombinant Fusion Proteins, MESH: Eye, MESH: Zebrafish Proteins, Transfection, Bone morphogenetic protein, Wnt-5a Protein, General Biochemistry, Genetics and Molecular Biology, Wnt3 Protein, 03 medical and health sciences, Organ Culture Techniques, Species Specificity, MESH: Wnt2 Protein, Animals, Outbred Strains, MESH: Recombinant Fusion Proteins, Humans, MESH: Species Specificity, LDL-Receptor Related Proteins, MESH: Genes, Recessive, MESH: Adaptor Proteins, Signal Transducing, Osteoblasts, MESH: Humans, Skull, MESH: Child, Preschool, Proteins, MESH: Adult, medicine.disease, MESH: Cercopithecus aethiops, Mice, Inbred C57BL, Wnt Proteins, Endocrinology, MESH: Receptors, LDL, Culture Media, Conditioned, Stromal Cells, Opheldering van erfelijke ziekten en hun moleculaire diagnostiek, MESH: Female, MESH: Signal Transduction, Bone density, MESH: Bone Morphogenetic Proteins, Eye, Bone Density, Wnt4 Protein, Chlorocebus aethiops, MESH: Syndrome, MESH: Bone Density, MESH: Heterozygote, MESH: Culture Media, Conditioned, LRP5, Syndrome, MESH: Eye Abnormalities, Recombinant Proteins, Low Density Lipoprotein Receptor-Related Protein-5, Bone Morphogenetic Proteins, Female, MESH: Skull, Signal Transduction, MESH: Osteoporosis, Adult, Peak bone mass, Heterozygote, DNA, Complementary, Elucidation of hereditary disorders and their molecular diagnosis, Genes, Recessive, 030209 endocrinology & metabolism, Biology, Bone morphogenetic protein 2, MESH: Phosphoproteins, MESH: LDL-Receptor Related Proteins, MESH: Mice, Inbred C57BL, Proto-Oncogene Proteins, Internal medicine, medicine, Animals, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, MESH: Mice, MESH: Transforming Growth Factor beta, Adaptor Proteins, Signal Transducing, 030304 developmental biology, MESH: Osteoblasts, Biochemistry, Genetics and Molecular Biology(all), Chromosomes, Human, Pair 11, MESH: Transfection, MESH: DNA, Complementary, Zebrafish Proteins, Phosphoproteins, MESH: Male, MESH: Organ Culture Techniques, MESH: Proto-Oncogene Proteins, Receptors, LDL, LDL receptor, MESH: Chromosomes, Human, Pair 11, MESH: Stromal Cells
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2
المؤلفون: Juha Oksa, M. Höyhtyä, Tero Mäkinen, T. Turpeenniemi‐Hujanen, S. O. A. Koskinen, H. Somer, Vesa Martikkala, M. Löfberg, Hannu Rintamäki, Timo E.S. Takala
المصدر: Scandinavian Journal of Medicine & Science in Sports. 11:9-15
مصطلحات موضوعية: medicine.medical_specialty, biology, Matrix metalloproteinase inhibitor, Chemistry, Physical Therapy, Sports Therapy and Rehabilitation, Physical exercise, Matrix metalloproteinase, medicine.disease, Extracellular matrix, Endocrinology, Biochemistry, Internal medicine, medicine, biology.protein, Orthopedics and Sports Medicine, Creatine kinase, Muscular dystrophy, Rhabdomyolysis, Myositis
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المؤلفون: I, Mahjneh, H, Somer, A, Paetau, G, Marconi
المصدر: European journal of neurology. 10(4)
مصطلحات موضوعية: Tomography Scanners, X-Ray Computed, Electromyography, Biopsy, Siblings, Neural Conduction, Middle Aged, Radiography, Microscopy, Electron, Muscular Diseases, Humans, Female, Muscle, Skeletal, Creatine Kinase, Follow-Up Studies
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المؤلفون: S O, Koskinen, M, Höyhtyä, T, Turpeenniemi-Hujanen, V, Martikkala, T T, Mäkinen, J, Oksa, H, Rintamäki, M, Löfberg, H, Somer, T E, Takala
المصدر: Scandinavian journal of medicinescience in sports. 11(1)
مصطلحات موضوعية: Adult, Male, Myositis, Temperature, Humans, Matrix Metalloproteinase 2, Collagenases, Matrix Metalloproteinase Inhibitors, Muscle, Skeletal, Creatine Kinase, Muscular Dystrophies, Rhabdomyolysis, Running
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المؤلفون: A, Suomalainen, A, Majander, M, Wallin, K, Setälä, K, Kontula, H, Leinonen, T, Salmi, A, Paetau, M, Haltia, L, Valanne, J, Lonnqvist, L, Peltonen, H, Somer
المصدر: Neurology. 48(5)
مصطلحات موضوعية: Adult, Male, Ophthalmoplegia, Muscles, Mutation, Disease Progression, Humans, Female, Middle Aged, DNA, Mitochondrial, Gene Deletion, Genes, Dominant, Pedigree
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::30d6ba0bc03507fd87d84f90b4e7f269
https://pubmed.ncbi.nlm.nih.gov/9153451 -
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المؤلفون: M, Haltia, I, Leivo, H, Somer, H, Pihko, A, Paetau, T, Kivelä, A, Tarkkanen, F, Tomé, E, Engvall, P, Santavuori
المصدر: Annals of neurology. 41(2)
مصطلحات موضوعية: Adult, Male, Brain Diseases, Muscular Atrophy, Eye Diseases, Humans, Female, Child, Immunohistochemistry
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7
المؤلفون: H, Somer, M, Auranen
المصدر: Duodecim; laaketieteellinen aikakauskirja. 113(18)
مصطلحات موضوعية: Male, X Chromosome, Muscular Diseases, Mutation, Humans, Myotonic Dystrophy, Female, Muscular Dystrophies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6a39fcc3d0342fa577e5e666061ef2fa
https://pubmed.ncbi.nlm.nih.gov/10892072 -
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المؤلفون: Bjarne Udd, H Somer, Leena Peltonen, P. Nokelainen
المصدر: Human heredity. 46(2)
مصطلحات موضوعية: musculoskeletal diseases, Genetics, Male, Models, Genetic, Tibia, Genetic Linkage, Locus (genetics), Paternity, Disease, Biology, medicine.disease, Phenotype, Muscular Dystrophies, Pedigree, Gene mapping, Tibial Muscular Dystrophy, Genetic linkage, Genetic marker, medicine, Humans, Female, Muscular dystrophy, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebd3dd5dae73628ffef7365e5d25b855
https://pubmed.ncbi.nlm.nih.gov/8666419 -
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المؤلفون: M, Löfberg, M, Junes, H, Seppänen, I, Rautakorpi, A, Paetau, M, Härkönen, H, Somer
المصدر: Duodecim; laaketieteellinen aikakauskirja. 109(19)
مصطلحات موضوعية: Adult, Male, Muscles, Glycogen Storage Disease Type V, Humans, Glycolysis, Glycogen, Pedigree
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::3478bcc37e1f7effbf5eec8171c51522
https://pubmed.ncbi.nlm.nih.gov/7736987 -
10
المؤلفون: H, Somer
المصدر: Duodecim; laaketieteellinen aikakauskirja. 109(14)
مصطلحات موضوعية: Myositis, Risk Factors, Neoplasms, Humans, Dermatomyositis, Polymyositis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::f0d2370b1311104a01816c0d6e31f178
https://pubmed.ncbi.nlm.nih.gov/8062697