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A Protein Misfolding Shaking Amplification-based method for the spontaneous generation of hundreds of bona fide prions.
Eraña H, Sampedro-Torres-Quevedo C, Charco JM, Díaz-Domínguez CM, Peccati F, San-Juan-Ansoleaga M, Vidal E, Gonçalves-Anjo N, Pérez-Castro MA, González-Miranda E, Piñeiro P, Fernández-Veiga L, Galarza-Ahumada J, Fernández-Muñoz E, Perez de Nanclares G, Telling G, Geijo M, Jiménez-Osés G, Castilla J. Eraña H, et al. Among authors: perez de nanclares g. Nat Commun. 2024 Mar 8;15(1):2112. doi: 10.1038/s41467-024-46360-2. Nat Commun. 2024. PMID: 38459071 Free PMC article.
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.
Linglart A, Fryssira H, Hiort O, Holterhus PM, Perez de Nanclares G, Argente J, Heinrichs C, Kuechler A, Mantovani G, Leheup B, Wicart P, Chassot V, Schmidt D, Rubio-Cabezas Ó, Richter-Unruh A, Berrade S, Pereda A, Boros E, Muñoz-Calvo MT, Castori M, Gunes Y, Bertrand G, Bougnères P, Clauser E, Silve C. Linglart A, et al. Among authors: perez de nanclares g. J Clin Endocrinol Metab. 2012 Dec;97(12):E2328-38. doi: 10.1210/jc.2012-2326. Epub 2012 Oct 5. J Clin Endocrinol Metab. 2012. PMID: 23043190 Clinical Trial.
Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism.
Romanelli V, Nevado J, Fraga M, Trujillo AM, Mori MÁ, Fernández L, Pérez de Nanclares G, Martínez-Glez V, Pita G, Meneses H, Gracia R, García-Miñaur S, García de Miguel P, Lecumberri B, Rodríguez JI, González Neira A, Monk D, Lapunzina P. Romanelli V, et al. Among authors: perez de nanclares g. J Med Genet. 2011 Mar;48(3):212-6. doi: 10.1136/jmg.2010.081919. Epub 2010 Nov 19. J Med Genet. 2011. PMID: 21097775
Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients.
Pereda A, Elli FM, Thiele S, de Sanctis L, Rothenbuhler A, Hanna P, Francou B, Ertl DA, Perez de Nanclares G, Linglart A, Mantovani G. Pereda A, et al. Among authors: perez de nanclares g, de sanctis l. Eur J Endocrinol. 2021 Feb;184(2):311-320. doi: 10.1530/EJE-20-0625. Eur J Endocrinol. 2021. PMID: 33270042 Free article.
Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.
Rochtus A, Martin-Trujillo A, Izzi B, Elli F, Garin I, Linglart A, Mantovani G, Perez de Nanclares G, Thiele S, Decallonne B, Van Geet C, Monk D, Freson K. Rochtus A, et al. Among authors: perez de nanclares g. Clin Epigenetics. 2016 Jan 26;8:10. doi: 10.1186/s13148-016-0175-8. eCollection 2016. Clin Epigenetics. 2016. PMID: 26819647 Free PMC article.
ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation.
Yeste D, González-Niño C, Pérez de Nanclares G, Pérez-Nanclares G, Audi L, Castaño L, Carrascosa A. Yeste D, et al. Among authors: perez de nanclares g, perez nanclares g. Eur J Pediatr. 2009 Jan;168(1):65-9. doi: 10.1007/s00431-008-0710-5. Epub 2008 Apr 15. Eur J Pediatr. 2009. PMID: 18414894
GATA4 mutations are a cause of neonatal and childhood-onset diabetes.
Shaw-Smith C, De Franco E, Lango Allen H, Batlle M, Flanagan SE, Borowiec M, Taplin CE, van Alfen-van der Velden J, Cruz-Rojo J, Perez de Nanclares G, Miedzybrodzka Z, Deja G, Wlodarska I, Mlynarski W, Ferrer J, Hattersley AT, Ellard S. Shaw-Smith C, et al. Among authors: perez de nanclares g, de franco e. Diabetes. 2014 Aug;63(8):2888-94. doi: 10.2337/db14-0061. Epub 2014 Apr 2. Diabetes. 2014. PMID: 24696446 Free PMC article.
125 results