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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.
Panhypopituitarism: genetic versus acquired etiological factors.
Coya R, Vela A, Pérez de Nanclares G, Rica I, Castaño L, Busturia MA, Martul P; GEDPIT group. Coya R, et al. Among authors: rica i. J Pediatr Endocrinol Metab. 2007 Jan;20(1):27-36. doi: 10.1515/jpem.2007.20.1.27. J Pediatr Endocrinol Metab. 2007. PMID: 17315526
The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities.
Rica I, Luzuriaga C, Pérez de Nanclares G, Estalella I, Aragonés A, Barrio R, Bilbao JR, Carlés C, Fernández C, Fernández JM, Fernández-Rebollo E, Gastaldo E, Giralt P, Gomez Vida JM, Gutiérrez A, López Siguero JP, Martínez-Aedo MJ, Muñoz M, Prieto J, Rodrigo J, Vargas F, Castano L. Rica I, et al. Diabet Med. 2007 Jul;24(7):707-13. doi: 10.1111/j.1464-5491.2007.02140.x. Epub 2007 May 8. Diabet Med. 2007. PMID: 17490422
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
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.
Garin I, Edghill EL, Akerman I, Rubio-Cabezas O, Rica I, Locke JM, Maestro MA, Alshaikh A, Bundak R, del Castillo G, Deeb A, Deiss D, Fernandez JM, Godbole K, Hussain K, O'Connell M, Klupa T, Kolouskova S, Mohsin F, Perlman K, Sumnik Z, Rial JM, Ugarte E, Vasanthi T; Neonatal Diabetes International Group; Johnstone K, Flanagan SE, Martínez R, Castaño C, Patch AM, Fernández-Rebollo E, Raile K, Morgan N, Harries LW, Castaño L, Ellard S, Ferrer J, Perez de Nanclares G, Hattersley AT. Garin I, et al. Among authors: rica i. Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):3105-10. doi: 10.1073/pnas.0910533107. Epub 2010 Jan 28. Proc Natl Acad Sci U S A. 2010. PMID: 20133622 Free PMC article.
79 results