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Year Number of Results
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1947 5
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1949 6
1950 19
1951 20
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1953 14
1954 18
1955 27
1956 17
1957 19
1958 28
1959 10
1960 21
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1962 36
1963 32
1964 47
1965 37
1966 42
1967 63
1968 48
1969 53
1970 62
1971 50
1972 64
1973 71
1974 62
1975 60
1976 53
1977 79
1978 72
1979 75
1980 103
1981 90
1982 117
1983 142
1984 181
1985 175
1986 186
1987 173
1988 175
1989 216
1990 242
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1992 217
1993 268
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1995 269
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1998 326
1999 309
2000 337
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2002 387
2003 380
2004 437
2005 508
2006 540
2007 523
2008 560
2009 657
2010 796
2011 796
2012 892
2013 957
2014 956
2015 1063
2016 1123
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2018 1189
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27,432 results

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Page 1
Jansen's Disease: Bone Abnormalities Beyond Chondrodysplasia.
Pereira RC, Delany AM, Reyes M, Gales B, Jüppner H, Salusky IB. Pereira RC, et al. J Clin Endocrinol Metab. 2025 Sep 16;110(10):2729-2740. doi: 10.1210/clinem/dgaf097. J Clin Endocrinol Metab. 2025. PMID: 39950977 Free PMC article.
CONTEXT: Jansen metaphyseal chondrodysplasia (JMC) is an ultra-rare autosomal dominant disease that is caused by heterozygous, activating PTH1R mutations resulting in PTH- and PTHrP-independent hypercalcemia and hypercalciuria, leading to nephrocalcinosis and impaired rena …
CONTEXT: Jansen metaphyseal chondrodysplasia (JMC) is an ultra-rare autosomal dominant disease that is caused by heterozygous, activa …
Jansen's metaphyseal chondrodysplasia.
Sood A, Sama D, Sharma R, Rastogi S. Sood A, et al. Indian Pediatr. 2000 Apr;37(4):435-40. Indian Pediatr. 2000. PMID: 10781242 No abstract available.
A mouse model of Jansen's metaphyseal chondrodysplasia for investigating disease mechanisms and candidate therapeutics.
Höppner J, Firat D, Parvez-Khan M, Reyes M, Hanna P, Yadav PS, Dean T, Ramos-Torres KM, Brugarolas P, Collins MT, Wein MN, Liu S, Gellman SH, Schipani E, Kronenberg HM, Gardella TJ, Jüppner H. Höppner J, et al. Proc Natl Acad Sci U S A. 2025 Jun 10;122(23):e2500176122. doi: 10.1073/pnas.2500176122. Epub 2025 Jun 2. Proc Natl Acad Sci U S A. 2025. PMID: 40455993
Jansen's metaphyseal chondrodysplasia (JMC) is a rare disorder caused by activating mutations in the parathyroid hormone (PTH)/PTH-related peptide (PTHrP) receptor (PTH1R). ...
Jansen's metaphyseal chondrodysplasia (JMC) is a rare disorder caused by activating mutations in the parathyroid hormone (PTH) …
Nonparathyroid Hypercalcemia.
Goltzman D. Goltzman D. Front Horm Res. 2019;51:77-90. doi: 10.1159/000491040. Epub 2018 Nov 19. Front Horm Res. 2019. PMID: 30641526 Review.
Increased PTHrP action with hypercalcemia may be seen in the benign disease Jansen's metaphyseal chondrodysplasia due to a gain-of-function mutation in PTHR1. Another humoral factor, 1,25-dihyroxyvitamin D [1,25(OH)2D] may be produced by lymphomas, but also by benig …
Increased PTHrP action with hypercalcemia may be seen in the benign disease Jansen's metaphyseal chondrodysplasia due to a gai …
Jansen's metaphyseal dysostosis.
Gordon SL, Varano LA, Alandete A, Maisels MJ. Gordon SL, et al. Pediatrics. 1976 Oct;58(4):556-60. Pediatrics. 1976. PMID: 972797
A case of Jansen's metaphyseal dysostosis, a rare disorder of endochondral ossification, is described. ...
A case of Jansen's metaphyseal dysostosis, a rare disorder of endochondral ossification, is described. ...
Review of article: Jansen, S.C.P., Hoorweg, B.B.N., Hoeks, S.E., van den Houten, M.M.L., Scheltinga, M.R.M., Teijink, J.A.W, Rouwet, E.V. A systematic review and meta-analysis of the effects of supervised exercise therapy on modifiable cardiovascular risk factors in intermittent claudication. Journal of Vascular Surgery 2019;69(4), 1293-1308.
Whipple MO. Whipple MO. J Vasc Nurs. 2019 Sep;37(3):221-222. doi: 10.1016/j.jvn.2019.09.002. J Vasc Nurs. 2019. PMID: 31727314 Free PMC article. No abstract available.
Opioid-induced respiratory depression.
Jansen SC, Dahan A. Jansen SC, et al. BJA Educ. 2024 Mar;24(3):100-106. doi: 10.1016/j.bjae.2023.12.007. Epub 2024 Jan 24. BJA Educ. 2024. PMID: 38375496 Free PMC article. Review. No abstract available.
Jansen's metaphyseal chondrodysplasia: a disorder due to a PTH/PTHrP receptor gene mutation.
Jüppner H. Jüppner H. Trends Endocrinol Metab. 1996 Jul;7(5):157-62. doi: 10.1016/1043-2760(96)00063-x. Trends Endocrinol Metab. 1996. PMID: 18406742
Jansen's metaphyseal chondrodysplasia (JMC) is a rare genetic disorder that is characterized by short-limbed dwarfism and severe, agonist-independent hypercalcemia. ...
Jansen's metaphyseal chondrodysplasia (JMC) is a rare genetic disorder that is characterized by short-limbed dwarfism and seve …
27,432 results
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