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New ABCC8 mutations in relapsing neonatal diabetes and clinical features.
Vaxillaire M, Dechaume A, Busiah K, Cavé H, Pereira S, Scharfmann R, de Nanclares GP, Castano L, Froguel P, Polak M; SUR1-Neonatal Diabetes Study Group. Vaxillaire M, et al. Among authors: castano l. Diabetes. 2007 Jun;56(6):1737-41. doi: 10.2337/db06-1540. Epub 2007 Mar 27. Diabetes. 2007. PMID: 17389331
Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy.
de Nanclares GP, Fernández-Rebollo E, Santin I, García-Cuartero B, Gaztambide S, Menéndez E, Morales MJ, Pombo M, Bilbao JR, Barros F, Zazo N, Ahrens W, Jüppner H, Hiort O, Castaño L, Bastepe M. de Nanclares GP, et al. Among authors: castano l. J Clin Endocrinol Metab. 2007 Jun;92(6):2370-3. doi: 10.1210/jc.2006-2287. Epub 2007 Apr 3. J Clin Endocrinol Metab. 2007. PMID: 17405843
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. Among authors: castano l. 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: castano l. 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
318 results