Search Results - "Jan De Beur, Suzanne"

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    High-throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects by Danzig, Jennifer, Li, Dong, Jan de Beur, Suzanne, Levine, Michael A

    “…Patients with pseudohypoparathyroidism type 1b (PHP1b) show disordered imprinting of the maternal GNAS allele or paternal uniparental disomy (UPD). Genetic…”
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    Journal Article
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    A clinician's guide to X‐linked hypophosphatemia by Carpenter, Thomas O, Imel, Erik A, Holm, Ingrid A, Jan de Beur, Suzanne M, Insogna, Karl L

    Published in Journal of bone and mineral research (01-07-2011)
    “…X‐linked hypophosphatemia (XLH) is the prototypic disorder of renal phosphate wasting, and the most common form of heritable rickets. Physicians, patients, and…”
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    Journal Article
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    Fibroblast Growth Factor 23–Mediated Bone Disease by Gonciulea, Anda R., MD, Jan De Beur, Suzanne M., MD

    “…Fibroblast growth factor 23 ( FGF23 ) is an important regulator of phosphate and vitamin D metabolism and its excessive or insufficient production leads to a…”
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    Journal Article
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    Burosumab for the Treatment of Tumor‐Induced Osteomalacia by Jan de Beur, Suzanne M, Miller, Paul D, Weber, Thomas J, Peacock, Munro, Insogna, Karl, Kumar, Rajiv, Rauch, Frank, Luca, Diana, Cimms, Tricia, Roberts, Mary Scott, San Martin, Javier, Carpenter, Thomas O

    Published in Journal of bone and mineral research (01-04-2021)
    “…ABSTRACT Tumor‐induced osteomalacia (TIO) is caused by phosphaturic mesenchymal tumors producing fibroblast growth factor 23 (FGF23) and is characterized by…”
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    Journal Article
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    Diabetic serum from older women increases adipogenic differentiation in mesenchymal stem cells by Moseley, Kendall F., Doyle, Máire E., Jan De Beur, Suzanne M.

    Published in Endocrine research (03-07-2018)
    “…Background: Paradoxically, elderly persons with type 2 diabetes mellitus (T2DM) fracture despite having higher bone density than nondiabetics. Systemic factors…”
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    Journal Article
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    Challenges in the management of tumor-induced osteomalacia (TIO) by Brandi, Maria Luisa, Clunie, Gavin P.R., Houillier, Pascal, Jan de Beur, Suzanne M., Minisola, Salvatore, Oheim, Ralf, Seefried, Lothar

    Published in Bone (New York, N.Y.) (01-11-2021)
    “…Tumor-induced osteomalacia (TIO), also known as oncogenic osteomalacia, is a rare acquired paraneoplastic disease, which is challenging to diagnose and treat…”
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    Journal Article
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    Vaccination for Coronavirus Disease 2019 (COVID‐19) and Relationship to Osteoporosis Care: Current Evidence and Suggested Approaches by Tsourdi, Elena, Yu, Elaine W., Jan de Beur, Suzanne M., Drake, Matthew T.

    Published in Journal of bone and mineral research (01-06-2021)
    “…ABSTRACT The development of coronavirus disease 2019 (COVID‐19) vaccines has proceeded at an unprecedented pace, with numerous trials conducted simultaneously…”
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    Journal Article
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    Localisation of mesenchymal tumours by somatostatin receptor imaging by de Beur, Suzanne M Jan, Streeten, Elizabeth A, Civelek, A Cahid, McCarthy, Edward F, Uribe, Liliana, Marx, Stephen J, Onobrakpeya, Olufunmilayo, Raisz, Lawrence G, Watts, Nelson B, Sharon, Michael, Levine, Michael A

    Published in The Lancet (British edition) (02-03-2002)
    “…Oncogenic osteomalacia, an acquired hypophosphataemic syndrome associated with mesenchymal tumours, is characterised by hypophosphataemia secondary to…”
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    Journal Article
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    Vitamin D–Binding Protein Deficiency and Homozygous Deletion of the GC Gene by Baer, Alan N, Jan De Beur, Suzanne, Brown, Matthew A, Duncan, Emma L, Evans, David M, Hollis, Bruce W, Berg, Anders H, Karumanchi, S. Ananth, Thadhani, Ravi, Bassyouni, Hanan, Lewkonia, Raymond, Marcadier, Julien L

    Published in The New England journal of medicine (27-06-2019)
    “…To the Editor: Henderson et al. (March 21 issue) 1 provide a detailed analysis of a 58-year-old woman with severe vitamin D deficiency related to vitamin…”
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    Journal Article
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    Tumor-Induced Osteomalacia by Jan de Beur, Suzanne M

    Published in JAMA (14-09-2005)
    “…Tumor-induced osteomalacia (TIO) is a rare paraneoplastic form of renal phosphate wasting that results in severe hypophosphatemia, a defect in vitamin D…”
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    Journal Article Conference Proceeding
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    Discordance between Genetic and Epigenetic Defects in Pseudohypoparathyroidism Type 1b Revealed by Inconsistent Loss of Maternal Imprinting at GNAS1 by Jan de Beur, Suzanne, Ding, Changlin, Germain-Lee, Emily, Cho, Justin, Maret, Alexander, Levine, Michael A.

    Published in American journal of human genetics (01-08-2003)
    “…Although the molecular basis of pseudohypoparathyroidism type 1b (PHP type 1b) remains unknown, a defect in imprinting at the GNAS1 locus has been suggested by…”
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    Journal Article
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