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autosomal dominant hyperparathyroidism相关文献:
Multiple Endocrine Neoplasia Type 2.
van Treijen MJC, de Vries LH, Hertog D, Vriens MR, Verrijn Stuart AA, van Nesselrooij BPM, Valk GD.
2022 Jan 2. 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:29465928
Multiple endocrine neoplasia type 2: A review.
Mathiesen JS, Effraimidis G, Rossing M, Rasmussen ÅK, Hoejberg L, Bastholt L, Godballe C, Oturai P, Feldt-Rasmussen U.
Semin Cancer Biol. 2022 Feb;79:163-179. doi: 10.1016/j.semcancer.2021.03.035. Epub 2021 Apr 1.
PMID:33812987
The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.
Hannan FM, Kallay E, Chang W, Brandi ML, Thakker RV.
Nat Rev Endocrinol. 2018 Dec;15(1):33-51. doi: 10.1038/s41574-018-0115-0.
PMID:30443043
17q12 Recurrent Deletion Syndrome.
Mitchel MW, Moreno-De-Luca D, Myers SM, Levy RV, Turner S, Ledbetter DH, Martin CL.
2016 Dec 8 [updated 2025 Feb 6]. 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:27929632
CLCN7-Related Osteopetrosis.
Sobacchi C, Villa A, Schulz A, Kornak U.
2007 Feb 12 [updated 2022 Jan 20]. 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:20301306
CDC73-Related Disorders.
Skefos CM, Waguespack SG, Perrier ND, Hu MI.
2008 Dec 31 [updated 2023 Sep 21]. 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:20301744
La néoplasie endocrinienne multiple de type 1 : mise au point après le congrès de l’ENETS 2019: Multiple Endocrine Neoplasia Type 1: Development after the ENETS 2019 Congress.
Vialon M, Desailloud R, Caron P.
Ann Endocrinol (Paris). 2019 Sep;80 Suppl 1:S19-S28. doi: 10.1016/S0003-4266(19)30113-1.
PMID:31606058
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
Hendy GN, D'Souza-Li L, Yang B, Canaff L, Cole DE.
Hum Mutat. 2000 Oct;16(4):281-96. doi: 10.1002/1098-1004(200010)16:4<281::AID-HUMU1>3.0.CO;2-A.
PMID:11013439
Non-Odontogenic Tumors of the Jaws.
Shaw SE, Chan CH.
2023 Jul 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
PMID:35015466
Rare syndromes.
Jabbour SA, Davidovici BB, Wolf R.
Clin Dermatol. 2006 Jul-Aug;24(4):299-316. doi: 10.1016/j.clindermatol.2006.04.005.
PMID:16828412
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