Grupo de Investigación en Endocrinología, Diabetes, Nutrición,Alteraciones Renales y Salud Infantil
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Hospital Universitario La Fe
Valencia, EspañaPublicaciones en colaboración con investigadoras/es de Hospital Universitario La Fe (13)
2024
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Integrative clinical, hormonal, and molecular data associate with invasiveness in acromegaly: REMAH study
European Journal of Endocrinology, Vol. 190, Núm. 6, pp. 421-433
2023
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Mortality in Acromegaly Diagnosed in Older Individuals in Spain Is Higher in Women Compared to the General Spanish Population
The Journal of clinical endocrinology and metabolism, Vol. 108, Núm. 9, pp. 2193-2202
2022
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Consensus guide on prophylactic gonadectomy in different sex development
Endocrinologia, Diabetes y Nutricion, Vol. 69, Núm. 8, pp. 629-645
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Factors associated with therapeutic response in acromegaly diagnosed in the elderly in Spain
Frontiers in Endocrinology, Vol. 13
2014
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Escape and lipodystrophy in acromegaly during pegvisomant therapy, a retrospective multicentre Spanish study
Clinical Endocrinology, Vol. 81, Núm. 6, pp. 883-890
2013
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Changes in acromegaly treatment over four decades in Spain: Analysis of the Spanish Acromegaly Registry (REA)
Pituitary, Vol. 16, Núm. 1, pp. 115-121
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
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Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals
Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 7
2010
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Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: Potential for misdiagnosis of pseudohypoparathyroidism type 1B
Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 2, pp. 765-771
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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
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Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development
Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 4, pp. 1876-1888
2007
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The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities
Diabetic Medicine, Vol. 24, Núm. 7, pp. 707-713