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Clinical and outcome comparison of genetically positive vs. negative patients in a large cohort of suspected familial hypocalciuric hypercalcemia.
Endocrine. 2024 Mar;83(3):747-756. doi: 10.1007/s12020-023-03560-y. Epub 2023 Oct 30.
Endocrine. 2024.
PMID: 38214877
Free PMC article.
Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort.
Mazarico-Altisent I, Capel I, Baena N, Bella-Cueto MR, Barcons S, Guirao X, Pareja R, Muntean A, Arsentales V, Caixàs A, Rigla M.
Mazarico-Altisent I, et al.
Front Endocrinol (Lausanne). 2023 Sep 21;14:1244361. doi: 10.3389/fendo.2023.1244361. eCollection 2023.
Front Endocrinol (Lausanne). 2023.
PMID: 37810884
Free PMC article.
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Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism.
Mazarico-Altisent I, Capel I, Baena N, Bella-Cueto MR, Barcons S, Guirao X, Albert L, Cano A, Pareja R, Caixàs A, Rigla M.
Mazarico-Altisent I, et al.
J Endocrinol Invest. 2023 Apr;46(4):829-840. doi: 10.1007/s40618-022-01948-7. Epub 2022 Nov 5.
J Endocrinol Invest. 2023.
PMID: 36334246
Free PMC article.
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Genetic study in primary hyperparathyroidism: Which patients and which genes to study?
Capel I, Mazarico-Altisent I, Baena N.
Capel I, et al. Among authors: mazarico altisent i.
Endocrinol Diabetes Nutr (Engl Ed). 2022 Apr;69(4):237-239. doi: 10.1016/j.endien.2022.02.020. Epub 2022 May 8.
Endocrinol Diabetes Nutr (Engl Ed). 2022.
PMID: 35545498
No abstract available.
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