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Page 1
Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.
Morey M, Castro-Feijóo L, Barreiro J, Cabanas P, Pombo M, Gil M, Bernabeu I, Díaz-Grande JM, Rey-Cordo L, Ariceta G, Rica I, Nieto J, Vilalta R, Martorell L, Vila-Cots J, Aleixandre F, Fontalba A, Soriano-Guillén L, García-Sagredo JM, García-Miñaur S, Rodríguez B, Juaristi S, García-Pardos C, Martínez-Peinado A, Millán JM, Medeira A, Moldovan O, Fernandez A, Loidi L. Morey M, et al. Among authors: rica i. BMC Med Genet. 2011 Sep 8;12:116. doi: 10.1186/1471-2350-12-116. BMC Med Genet. 2011. PMID: 21902834 Free PMC article.
Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes.
Gómez-Carballa A, Cerezo M, Balboa E, Heredia C, Castro-Feijóo L, Rica I, Barreiro J, Eirís J, Cabanas P, Martínez-Soto I, Fernández-Toral J, Castro-Gago M, Pombo M, Carracedo Á, Barros F, Salas A. Gómez-Carballa A, et al. Among authors: rica i. PLoS One. 2011 Apr 19;6(4):e18348. doi: 10.1371/journal.pone.0018348. PLoS One. 2011. PMID: 21526175 Free PMC article.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
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: rica 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.
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: rica i. 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.
Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas.
Martínez de LaPiscina I, Portillo Najera N, Rica I, Gaztambide S, Webb SM, Santos A, Moure MD, Paja Fano M, Hernandez MI, Chueca-Guindelain MJ, Hernández-Ramírez LC, Soto A, Valdés N, Castaño L. Martínez de LaPiscina I, et al. Among authors: rica i. Eur J Endocrinol. 2021 Aug 27;185(4):485-496. doi: 10.1530/EJE-21-0075. Eur J Endocrinol. 2021. PMID: 34313605
Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients.
Garin I, Rica I, Estalella I, Oyarzabal M, Rodríguez-Rigual M, San Pedro JI, Pérez-Nanclares G, Fernández-Rebollo E, Busturia MA, Castaño L, Pérez de Nanclares G; Spanish MODY Group. Garin I, et al. Among authors: rica i. Clin Endocrinol (Oxf). 2008 Jun;68(6):873-8. doi: 10.1111/j.1365-2265.2008.03214.x. Epub 2008 Feb 1. Clin Endocrinol (Oxf). 2008. PMID: 18248649
Heterozygous glucokinase mutations and birth weight in Spanish children.
de Las Heras J, Martínez R, Rica I, de Nanclares GP, Vela A, Castaño L; Spanish MODY group. de Las Heras J, et al. Among authors: rica i. Diabet Med. 2010 May;27(5):608-10. doi: 10.1111/j.1464-5491.2010.02953.x. Diabet Med. 2010. PMID: 20536962 No abstract available.
82 results