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Clinical and genetic characterization of congenital hyperinsulinism in Spain.
Martínez R, Fernández-Ramos C, Vela A, Velayos T, Aguayo A, Urrutia I, Rica I, Castaño L; Spanish Congenital Hyperinsulinism Group. Martínez R, et al. Among authors: castano l. Eur J Endocrinol. 2016 Jun;174(6):717-26. doi: 10.1530/EJE-16-0027. Eur J Endocrinol. 2016. PMID: 27188453
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: castano l. 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: castano l. 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.
Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus.
García-Castaño A, Madariaga L, Pérez de Nanclares G, Vela A, Rica I, Gaztambide S, Martínez R, Martinez de LaPiscina I, Urrutia I, Aguayo A, Velasco O; Familial neurohypophyseal diabetes insipidus Spanish working group; Castaño L. García-Castaño A, et al. Among authors: castano l. J Clin Endocrinol Metab. 2020 Apr 1;105(4):dgaa069. doi: 10.1210/clinem/dgaa069. J Clin Endocrinol Metab. 2020. PMID: 32052034
Response to Letter to the Editor: "Forty-One Individuals with Mutations in the AVP-NPII Gene Associated with Familial Neurohypophyseal Diabetes Insipidus.
García-Castaño A, Madariaga L, Pérez de Nanclares G, Vela A, Rica I, Gaztambide S, Martínez R, Martinez de LaPiscina I, Urrutia I, Aguayo A, Velasco O, Castaño L. García-Castaño A, et al. Among authors: castano l. J Clin Endocrinol Metab. 2020 Jul 1;105(7):dgaa255. doi: 10.1210/clinem/dgaa255. J Clin Endocrinol Metab. 2020. PMID: 32392319 No abstract available.
Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
Martínez de LaPiscina I, Hernández-Ramírez LC, Portillo N, Gómez-Gila AL, Urrutia I, Martínez-Salazar R, García-Castaño A, Aguayo A, Rica I, Gaztambide S, Faucz FR, Keil MF, Lodish MB, Quezado M, Pankratz N, Chittiboina P, Lane J, Kay DM, Mills JL, Castaño L, Stratakis CA. Martínez de LaPiscina I, et al. Among authors: castano l. Front Endocrinol (Lausanne). 2020 Jul 3;11:433. doi: 10.3389/fendo.2020.00433. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 32714280 Free PMC article.
308 results