GUSTAVO
PÉREZ DE NANCLARES LEAL
Hospital Universitario Araba
Vitoria, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario Araba (6)
2015
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Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: Atypical findings and a novel mutation in NR0B1
Journal of Pediatric Endocrinology and Metabolism, Vol. 28, Núm. 9-10, pp. 1129-1137
2012
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Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus
Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6
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Familial hypocalciuric hypercalcemia: New mutation in the CASR gene converting valine 697 to methionine
European Journal of Pediatrics, Vol. 171, Núm. 1, pp. 147-150
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Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain
Clinical Endocrinology, Vol. 76, Núm. 5, pp. 719-724
2011
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Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: Evidence for an autosomal recessive form of PHP-Ib?
Journal of Bone and Mineral Research, Vol. 26, Núm. 8, pp. 1854-1863
2004
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MICA response to gliadin in intestinal mucosa from celiac patients
Immunogenetics, Vol. 56, Núm. 8, pp. 549-554