Gustavo
Pérez Nanclares
Publicaciones en las que colabora con Gustavo Pérez Nanclares (9)
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
2009
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ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation
European Journal of Pediatrics, Vol. 168, Núm. 1, pp. 65-69
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Mutations in MAFA and IAPP are not a common cause of monogenic diabetes
Diabetic Medicine
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Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: Choanal atresia leading to misdiagnosis of CHARGE syndrome
European Journal of Endocrinology, Vol. 160, Núm. 4, pp. 711-717
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
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New mutation type in pseudohypoparathyroidism type Ia
Clinical Endocrinology, Vol. 69, Núm. 5, pp. 705-712