Suzanne Jan de Beur
Affiliation: Johns Hopkins University
- Molecular pathogenesis of hypophosphatemic ricketsSuzanne M Jan De Beur
Division of Endocrinology and Metabolism, Department of Medicine, Ilyssa Center for Molecular and Cellular Endocrinology, The Johns Hopkins University School of Medicine, 1830 East Monument Street, Baltimore, MD 21287, USA
J Clin Endocrinol Metab 87:2467-73. 2002
- The pseudohypoparathyroidism type lb locus is linked to a region including GNAS1 at 20q13.3Suzanne M Jan De Beur
Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21224, USA
J Bone Miner Res 18:424-33. 2003..Our data confirm that PHP1b is linked to a region that includes GNAS1, and further refine the locus, although the primary genetic mutation(s) that causes defective imprinting of GNAS1 remains undefined...
- Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1Suzanne Jan de Beur
Division of Endocrinology and Metabolism, Department of Medicine, and the Ilyssa Center for Molecular and Cellular Endocrinology, The Johns Hopkins University School of Medicine, Baltimore, MD, 21224, USA
Am J Hum Genet 73:314-22. 2003....
- Tumor-induced osteomalaciaSuzanne M Jan De Beur
Department of Medicine, Johns Hopkins University School of Medicine, and Johns Hopkins Bayview Medical Center, Baltimore, MD 21224, USA
JAMA 294:1260-7. 2005..In this article, the distinctive clinical characteristics of this syndrome, the advances in diagnosis of TIO, and new insights into the pathophysiology of this disorder are discussed...
- Exercise effects on bone mineral density relationships to changes in fitness and fatnessKerry J Stewart
Division of Cardiology, Department of Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland 21224, USA
Am J Prev Med 28:453-60. 2005..Weight loss typically reduces bone mineral density (BMD). Exercise may preserve or increase BMD even while reducing fatness. We examined the relationships among exercise-induced changes in fitness and fatness with BMD...
- Serum 25-hydroxyvitamin D, calcium, phosphorus, and electrocardiographic QT interval duration: findings from NHANES III and ARICYiyi Zhang
Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, 2024 East Monument Street, Baltimore, Maryland 21205, USA
J Clin Endocrinol Metab 96:1873-82. 2011....
- Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistanceEmily L Germain-Lee
Department of Pediatrics, Division of Endocrinology and the Ilyssa Center for Molecular Endocrinology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
J Clin Endocrinol Metab 88:4059-69. 2003..Our data indicate that GH deficiency is common (69%) in PHP type 1a and may contribute to the obesity and short stature typical of AHO. We propose that GH status be evaluated in all patients with PHP type 1a...
- Secreted frizzled-related protein 4 is a potent tumor-derived phosphaturic agentTheresa Berndt
Department of Medicine, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA
J Clin Invest 112:785-94. 2003..Thus, sFRP-4 displays phosphatonin-like properties, because it is a circulating protein that promotes phosphaturia and hypophosphatemia and blunts compensatory increases in 1alpha, 25-dihydroxyvitamin D...
- Most osteomalacia-associated mesenchymal tumors are a single histopathologic entity: an analysis of 32 cases and a comprehensive review of the literatureAndrew L Folpe
Department of Pathology and Laboratory Medicine, Emory University, Atlanta, GA, USA
Am J Surg Pathol 28:1-30. 2004..Recognition of PMTMCT is critical, as complete resection cures intractable OO. Immunohistochemistry and RT-PCR for FGF-23 confirm the role of this protein in PMTMCT-associated OO...
- Consumptive hypothyroidism caused by paraneoplastic production of type 3 iodothyronine deiodinaseMary D Ruppe
Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Thyroid 15:1369-72. 2005....
- Localisation of mesenchymal tumours by somatostatin receptor imagingSuzanne M Jan De Beur
Lancet 359:761-3. 2002..Our findings suggest that 111In-pentetreotide imaging effectively detects occult mesenchymal tumours and facilitates surgical treatment of oncogenic osteomalacia...
- PHOSPHOTONIN--A NOVEL PHOSPHATE REGULATORY HORMONESuzanne Jan de Beur; Fiscal Year: 2003..abstract_text> ..
- Role of FGF-23 in Regulation of Phosphate HomeostasisSuzanne Jan de Beur; Fiscal Year: 2004..Elucidating the molecular mechanism by which FGF-23 causes renal phosphate wasting will contribute substantially to our understanding of the role of FGF-23 in phosphate homeostasis. ..