GUSTAVO
PÉREZ DE NANCLARES LEAL
Hospital de Cruces
Barakaldo, EspañaPublications en collaboration avec des chercheurs de Hospital de Cruces (20)
2021
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Immunogenicity and reactogenicity of BNT162b2 booster in ChAdOx1-S-primed participants (CombiVacS): a multicentre, open-label, randomised, controlled, phase 2 trial
The Lancet, Vol. 398, Núm. 10295, pp. 121-130
2016
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Clinical and genetic characterization of congenital hyperinsulinism in Spain
European Journal of Endocrinology, Vol. 174, Núm. 6, pp. 717-726
2015
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Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus
PLoS ONE, Vol. 10, Núm. 2
2013
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Aspectos clínicos en dos casos de seudohipoparatiroidismo (ia y ib) y estudio molecular del locus GNAS
Anales de Pediatria, Vol. 79, Núm. 5, pp. 319-324
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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Hiperinsulinismo neonatal por nueva mutación del gen ABCC8 con evolución hacia diabetes hipoinsulínica
Revista Espanola de Pediatria, Vol. 68, Núm. 1, pp. 53-58
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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
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Hipercalcemia hipocalciúrica familiar: A propósito de una nueva mutación
Anales de Pediatria, Vol. 74, Núm. 1, pp. 47-50
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
2004
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MICA response to gliadin in intestinal mucosa from celiac patients
Immunogenetics, Vol. 56, Núm. 8, pp. 549-554
2003
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A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremities
American Journal of Medical Genetics, Vol. 120 A, Núm. 2, pp. 276-282
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Genetic and metabolic determinants of increased plasma plasminogen activator inhibitor-1 activity in children with renal transplants
Pediatric Nephrology, Vol. 18, Núm. 8, pp. 749-755
2002
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Hyperhomocysteinemia in children with renal transplants
Pediatric Nephrology, Vol. 17, Núm. 9, pp. 718-723
2001
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Polyunsaturated fatty acid deficiency during dietary treatment of very long-chain acyl-CoA dehydrogenase deficiency. Rescue with soybean oil
Journal of Inherited Metabolic Disease, Vol. 24, Núm. 4, pp. 493-503