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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, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:40638774
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
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
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
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
Approach to Hypercalcemia.
Goltzman D.
2026 Mar 19. In: Feingold KR, Adler RA, Ahmed SF, Anawalt B, Blackman MR, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hamilton E, Hofland J, Jan de Beur S, Kalra S, Kaltsas G, Kapoor N, Kim M, 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, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–.
PMID:25905352
Jansen's metaphyseal chondrodysplasia.
Sood A, Sama D, Sharma R, Rastogi S.
Indian Pediatr. 2000 Apr;37(4):435-40.
PMID:10781242
Jansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations.
Obiezu F, Almpani K, Kim HJ, Zalewski C, Chu E, Jahanmir G, Roszko KL, Boyce A, Farhadi F, Weinstein LS, Gafni RI, Ferreira CR, Jüppner H, Collins MT, Lee JS, Jha S.
JBMR Plus. 2024 Nov 26;9(2):ziae156. doi: 10.1093/jbmrpl/ziae156. eCollection 2025 Feb.
PMID:39830149
Nonparathyroid Hypercalcemia.
Goltzman D.
Front Horm Res. 2019;51:77-90. doi: 10.1159/000491040. Epub 2018 Nov 19.
PMID:30641526
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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