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Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.
- E. Cleiren, O. Benichou, +9 authors W. Van Hul
- Biology, Medicine
- Human molecular genetics
- 1 December 2001
From genotype-phenotype correlations, it seems that ADO II reflects a dominant negative effect, whereas loss-of-function mutations in ClCN7 do not cause abnormalities in heterozygous individuals. Expand
A specific immunoassay for monitoring human bone resorption: Quantitation of type I collagen cross‐linked N‐telopeptides in urine
- D. Hanson, M. Weis, A. Bollen, S. Maslan, F. Singer, D. Eyre
- Chemistry, Medicine
- Journal of bone and mineral research : the…
- 1 November 1992
The method shows considerable promise as a rapid and specific index of human bone resorption rates, with greatly improved specificity and convenience over total pyridinoline analysis, against samples from normal subjects and from patients with metabolic bone disease. Expand
Alendronate treatment of the postmenopausal osteoporotic woman: effect of multiple dosages on bone mass and bone remodeling.
Alendronate, a potent inhibitor of bone resorption, reduces markers of bone remodeling and significantly increases BMD at the lumbar spine, hip, and total body, and is well tolerated at therapeutic doses in the treatment of osteoporosis in postmenopausal women. Expand
McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia
Fibrous dysplasia (FD) is sometimes accompanied by extraskeletal manifestations that can include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such as… Expand
Skeletal and Hormonal Effects of Magnesium Deficiency
- R. Rude, F. Singer, H. Gruber
- Biology, Medicine
- Journal of the American College of Nutrition
- 1 April 2009
The notion at dietary Mg intake at levels not uncommon in humans may perturb bone and mineral metabolism and be a risk factor for osteoporosis is supported. Expand
Genetic linkage of Paget disease of the bone to chromosome 18q.
- J. Cody, F. Singer, +4 authors R. Leach
- Biology, Medicine
- American journal of human genetics
- 1 November 1997
A large kindred with a high incidence of Paget disease was examined to determine if it was linked to genetic markers in the same region of chromosome 18 as that for familial expansile osteolysis, and a two-point LOD score of 3.40 demonstrated that the gene(s) responsible for FEO and that for Paget Disease are either closely linked or the same locus. Expand
Metabolism of 25-hydroxyvitamin D3 by cultured pulmonary alveolar macrophages in sarcoidosis.
- J. Adams, O. Sharma, M. Gacad, F. Singer
- The Journal of clinical investigation
- 1 November 1983
Investigation of metabolism of [3H]25-hydroxyvitamin D3(25-OH-D3) in primary cultures of pulmonary alveolar macrophages found an unlabeled metabolite that co-chromatographed with the 3H-PAM metabolite on HPLC and was bound with high affinity by both the specific receptor for 1,25-(OH)2- D3 and antiserum to 1, 25-(OH]2-D 3. Expand
Bisphosphonate treatment inhibits the growth of prostate cancer cells.
The intriguing possibility that the observed clinical utility of bisphosphonates in managing skeletal metastases may in part derive from direct inhibition of prostate cancer cell growth in the bone microenvironment is raised. Expand
Evidence that serum NTx (collagen-type I N-telopeptides) can act as an immunochemical marker of bone resorption.
It is reported by a sensitive immunoassay that NTx is present in serum and is suppressed appropriately in patients with Paget disease of bone by bisphosphonate antiresorptive therapy, consistent with other evidence showing that immunoreactive NTx originates directly during the proteolytic cleavage of bone collagen by osteoclasts. Expand
Multimarker circulating DNA assay for assessing blood of prostate cancer patients.
This pilot study demonstrates that the combined circulating DNA multimarker assay identifies patients with PCa and may yield information independent of AJCC stage or PSA concentration. Expand