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Five patients with disorders of calcium metabolism presented with GCM2 gene variants.
García-Castaño A, Madariaga L, Gómez-Conde S, Cordo CLR, López-Iglesias M, Garcia-Fernández Y, Martín A, González P, Goicolea I, de Nanclares GP, De la Hoz AB, Aguayo A, de LaPiscina IM, Martínez R, Saso L, Urrutia I, Velasco O, Castaño L, Gaztambide S. García-Castaño A, et al. Among authors: martinez r. Sci Rep. 2021 Feb 3;11(1):2968. doi: 10.1038/s41598-021-82661-y. Sci Rep. 2021. PMID: 33536578 Free PMC article.
Lower Frequency of HLA-DRB1 Type 1 Diabetes Risk Alleles in Pediatric Patients with MODY.
Urrutia I, Martínez R, López-Euba T, Velayos T, Martínez de LaPiscina I, Bilbao JR, Rica I, Castaño L; Spanish Group for the Study of MODY and Type 1 diabetes. Urrutia I, et al. Among authors: martinez r, martinez de lapiscina i. PLoS One. 2017 Jan 4;12(1):e0169389. doi: 10.1371/journal.pone.0169389. eCollection 2017. PLoS One. 2017. PMID: 28052112 Free PMC article.
Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia.
García-Castaño A, Madariaga L, Azriel S, Pérez de Nanclares G, Martínez de LaPiscina I, Martínez R, Urrutia I, Aguayo A, Gaztambide S, Castaño L. García-Castaño A, et al. Among authors: martinez r, martinez de lapiscina i. Endocrinol Diabetes Metab Case Rep. 2018;2018:18-0114. doi: 10.1530/EDM-18-0114. Epub 2018 Dec 5. Endocrinol Diabetes Metab Case Rep. 2018. PMID: 30530875 Free PMC article.
3,170 results