المؤلفون: Lorenz-Depiereux, Bettina, Bastepe, Murat, Benet-Pagès, Anna, Amyere, Mustapha, Wagenstaller, Janine, Müller-Barth, Ursula, Badenhoop, Klaus, Kaiser, Stephanie M., Rittmaster, Roger S., Shlossberg, Alan H., Olivares, José L., Loris, César, Ramos, Feliciano J., Glorieux, Francis, Vikkula, Miikka, Jüppner, Harald, Strom, Tim M.

المساهمون: UCL - MD/BICL - Département de biochimie et de biologie cellulaire, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - (SLuc) Centre de génétique médicale UCL

المصدر: Nature Genetics, Vol. 38, no. 11, p. 1248-1250 (2006)

مصطلحات موضوعية: Adolescent, Adult, Bone Matrix, Child, Extracellular Matrix Proteins, Fibroblast Growth Factors, Homeostasis, Humans, Hypophosphatemia, Infant, Mutation, PHEX Phosphate Regulating Neutral Endopeptidase, Pedigree, Phosphates, Phosphoproteins

العلاقة: boreal:27097; http://hdl.handle.net/2078.1/27097Test; info:pmid/17033625; urn:ISSN:1061-4036; urn:EISSN:1546-1718

الإتاحة: https://doi.org/10.1038/ng1868Test
http://hdl.handle.net/2078.1/27097Test

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: Gensure, Robert C, Mäkitie, Outi, Barclay, Catherine, Chan, Catherine, Depalma, Steven R, Bastepe, Murat, Abuzahra, Hilal, Couper, Richard, Mundlos, Stefan, Sillence, David, Ala Kokko, Leena, Seidman, Jonathan G, Cole, William G, Jüppner, Harald

المصدر: Department of Pathology & Laboratory Medicine

مصطلحات موضوعية: Bone and Bones, Chromosome Mapping, Chromosomes, Human, Pair 17, Collagen Type I, alpha 1 Chain, Dermis, Female, Fibula, Haplotypes, Humans, Hyperostosis, Cortical, Congenital, Infant, Male, Mutation, Pedigree, Radiography, Tibia, Department of Pathology and Laboratory Medicine, Medicine and Health Sciences

العلاقة: https://scholarlyworks.lvhn.org/pathology-laboratory-medicine/1298Test; https://pubmed.ncbi.nlm.nih.gov/15864348Test/

الإتاحة: https://scholarlyworks.lvhn.org/pathology-laboratory-medicine/1298Test
https://pubmed.ncbi.nlm.nih.gov/15864348Test/

المؤلفون: Gong, Yaoqin, Slee, Roger B., Fukai, Naomi, Rawadi, Georges, Roman-Roman, Sergio, Reginato, Anthony M., Wang, Hongwei, Cundy, Tim, Glorieux, Francis H., Lev, Dorit, Zacharin, Margaret, Oexle, Konrad, Marcelino, Jose, Suwairi, Wafaa, Heeger, Shauna, Sabatakos, George, Apte, Suneel, Adkins, William N., Allgrove, Jeremy, Arslan-Kirchner, Mine, Batch, Jennifer A., Beighton, Peter, Black, Graeme C., Boles, Richard G., Boon, Laurence M., Borrone, Carla, Brunner, Han G., Carle, Georges F., Dallapiccola, Bruno, De Paepe, Anne, Floege, Barbara, Halfhide, Melissa Lees, Hall, Bryan, Hennekam, Raoul C., Hirose, Tatsuo, Jans, Ab, Jüppner, Harald, Kim, Chong Ae, Keppler-Noreuil, Kim, Kohlschuetter, Alfred, LaCombe, Didier, LAMBERT, Marie, Lemyre, Emmanuelle, Letteboer, Tom, Peltonen, Leena, Ramesar, Rajkumar S., Romanengo, Marta, Somer, Hannu, Steichen-Gersdorf, Elisabeth, Steinmann, Beat, Sullivan, Beth, Superti-Furga, Andrea, Swoboda, Walter, van den Boogaard, Marie-José, Van Hul, Wim, Vikkula, Miikka, Votruba, Marcela, Zabel, Bernhard, Garcia, Teresa, Baron, Roland, Olsen, Bjorn R., Warman, Matthew L., Osteoporosis-Pseudoglioma Syndrome Collaborative Group

المساهمون: UCL - MD/CHIR - Département de chirurgie, UCL - (SLuc) Service de chirurgie plastique, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - MD/BICL - Département de biochimie et de biologie cellulaire, Université Catholique de Louvain - Centre de génétique humaine

المصدر: Cell, Vol. 107, no.4, p. 513-523 (2001)

مصطلحات موضوعية: Adaptor Proteins, Signal Transducing, Adult, Animals, Outbred Strains, Bone Density, Bone Morphogenetic Protein 2, Bone Morphogenetic Proteins, COS Cells, Child, Preschool, Chlorocebus aethiops, Chromosomes, Human, Pair 11, Culture Media, Conditioned, DNA, Complementary, Dishevelled Proteins, Eye, Eye Abnormalities, Female, Genes, Recessive, Heterozygote, Humans, LDL-Receptor Related Proteins, Low Density Lipoprotein Receptor-Related Protein-5, Male

العلاقة: boreal:239284; http://hdl.handle.net/2078.1/239284Test; info:pmid/11719191; urn:ISSN:0092-8674; urn:EISSN:1097-4172

الإتاحة: https://doi.org/10.1016/s0092-8674Test(01)00571-2
http://hdl.handle.net/2078.1/239284Test

المؤلفون: Bastepe, Murat, Jüppner, Harald

المصدر: New England Journal of Medicine. 5/23/2002, Vol. 346 Issue 21, p1669-1671. 1p.

مصطلحات موضوعية: *LETTERS to the editor, *GENETIC mutation

المؤلفون: Jüppner, Harald

المصدر: New England Journal of Medicine. 1/10/2002, Vol. 346 Issue 2, p128-130. 1p.

مصطلحات موضوعية: *GENETIC disorders, *GENES, *GENETIC mutation, *PSEUDO-pseudohypoparathyroidism

المؤلفون: Jonsson, Kenneth, Econs, Michael, Jüppner, Harald

المصدر: New England Journal of Medicine. 7/31/2003, Vol. 349 Issue 5, p505-506. 1p.

مصطلحات موضوعية: *LETTERS to the editor, *FIBROBLAST growth factors