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New mutation type in pseudohypoparathyroidism type Ia.
Fernandez-Rebollo E, Barrio R, Pérez-Nanclares G, Carcavilla A, Garin I, Castaño L, de Nanclares GP. Fernandez-Rebollo E, et al. Among authors: castano l. Clin Endocrinol (Oxf). 2008 Nov;69(5):705-12. doi: 10.1111/j.1365-2265.2008.03255.x. Epub 2008 Apr 3. Clin Endocrinol (Oxf). 2008. PMID: 18394017
Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.
Lecumberri B, Fernández-Rebollo E, Sentchordi L, Saavedra P, Bernal-Chico A, Pallardo LF, Bustos JM, Castaño L, de Santiago M, Hiort O, Pérez de Nanclares G, Bastepe M. Lecumberri B, et al. Among authors: castano l. J Med Genet. 2010 Apr;47(4):276-80. doi: 10.1136/jmg.2009.071001. Epub 2009 Oct 26. J Med Genet. 2010. PMID: 19858129 Free PMC article.
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
No association of INS-VNTR genotype and IAA autoantibodies.
Pérez de Nanclares G, Bilbao JR, Castano L. Pérez de Nanclares G, et al. Among authors: castano l. Ann N Y Acad Sci. 2004 Dec;1037:127-30. doi: 10.1196/annals.1337.020. Ann N Y Acad Sci. 2004. PMID: 15699505
318 results