LUIS ANTONIO
CASTAÑO GONZÁLEZ
Hospital Universitario La Fe
Valencia, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario La Fe (8)
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
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