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Jansen's metaphyseal chondrodysplasia相关文献:
PTH1R-Related Jansen Metaphyseal Chondrodysplasia.
Obiezu F, Boyce A, Jüppner H, Jha S.
2025 Jul 10. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:40638774
Approach to Hypercalcemia.
Goltzman D.
2023 Apr 17. In: Feingold KR, Ahmed SF, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hofland J, Kalra S, Kaltsas G, Kapoor N, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrère B, Levy M, McGee EA, McLachlan R, Muzumdar R, Purnell J, Rey R, Sahay R, Shah AS, Singer F, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–.
PMID:25905352
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.
Proc Natl Acad Sci U S A. 2025 Jun 10;122(23):e2500176122. doi: 10.1073/pnas.2500176122. Epub 2025 Jun 2.
PMID:40455993
The PTH/PTHrP receptor in Jansen's metaphyseal chondrodysplasia.
Calvi LM, Schipani E.
J Endocrinol Invest. 2000 Sep;23(8):545-54. doi: 10.1007/BF03343773.
PMID:11021773
Jansen's metaphyseal chondrodysplasia.
Sood A, Sama D, Sharma R, Rastogi S.
Indian Pediatr. 2000 Apr;37(4):435-40.
PMID:10781242
Ocular findings in Jansen metaphyseal chondrodysplasia.
Obiezu F, Magone De Quadros Costa MT, Huryn LA, Pan K, Almpani K, Ninan A, Roszko KL, Weinstein LS, Gafni RI, Ferreira CR, Lee J, Collins MT, Jha S.
JBMR Plus. 2024 Jul 12;8(9):ziae089. doi: 10.1093/jbmrpl/ziae089. eCollection 2024 Sep.
PMID:39108358
Jansen's Disease: Bone Abnormalities Beyond Chondrodysplasia.
Pereira RC, Delany AM, Reyes M, Gales B, Jüppner H, Salusky IB.
J Clin Endocrinol Metab. 2025 Sep 16;110(10):2729-2740. doi: 10.1210/clinem/dgaf097.
PMID:39950977
Nonparathyroid Hypercalcemia.
Goltzman D.
Front Horm Res. 2019;51:77-90. doi: 10.1159/000491040. Epub 2018 Nov 19.
PMID:30641526
Jansen's metaphyseal chondrodysplasia: a disorder due to a PTH/PTHrP receptor gene mutation.
Jüppner H.
Trends Endocrinol Metab. 1996 Jul;7(5):157-62. doi: 10.1016/1043-2760(96)00063-x.
PMID:18406742
Metaphyseal chondrodysplasia of Jansen.
GRAM PB, FLEMING JL, FRAME B, FINE G.
J Bone Joint Surg Am. 1959 Jul;41-A(5):951-9.
PMID:13664729
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