Sonia
Gaztambide Sáenz
Hospital Virgen del Camino
Pamplona, EspañaPublicaciones en colaboración con investigadores/as de Hospital Virgen del Camino (7)
2015
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RET Cys634Arg mutation confers a more aggressive multiple endocrine neoplasia type 2A phenotype than Cys634Tyr mutation
European Journal of Endocrinology, Vol. 172, Núm. 3, pp. 301-307
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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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
2010
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New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism
European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962
2008
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Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients
Clinical Endocrinology, Vol. 68, Núm. 6, pp. 873-878
2007
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Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy
Journal of Clinical Endocrinology and Metabolism, Vol. 92, Núm. 6, pp. 2370-2373
2002
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Características de la versión española del cuestionario de calidad de vida QLSM-H en sujetos adultos con deficiencia de hormona de crecimiento tratados con somatotropina. Estudio piloto
Endocrinologia y Nutricion, Vol. 49, Núm. 4, pp. 105-112