FERNANDO
DOMINGUEZ PUENTE
Profesor emérito de universidad
![Foto de Lourdes](/img/nophoto.png)
Lourdes
Loidi
Publicaciones en las que colabora con Lourdes Loidi (21)
2024
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Bilateral Uveal Melanoma: An Insight into Genetic Predisposition in Four New Unrelated Patients and Review of Published Cases
Journal of Clinical Medicine, Vol. 13, Núm. 11
2021
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Role of somatic mutations and chromosomal aberrations in the prognosis of uveal melanoma in a Spanish patient cohort
Acta Ophthalmologica, Vol. 99, Núm. 7, pp. e1077-e1089
2010
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Functional consequences of seven novel mutations in the CYP11B1 gene: Four mutations associated with nonclassic and three mutations causing classic 11β-hydroxylase deficiency
Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 2, pp. 779-788
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Genetic study of the hepcidin gene (HAMP) promoter and functional analysis of the c.-582A > G variant
BMC Genetics, Vol. 11
2009
2008
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High frequency of copy number variations and sequence variants at CYP21A2 locus: Implication for the genetic diagnosis of 21-hydroxylase deficiency
PLoS ONE, Vol. 3, Núm. 5
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Hypochondroplasia and acanthosis nigricans: A new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?
European Journal of Endocrinology, Vol. 159, Núm. 3, pp. 243-249
2007
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A simple and robust quantitative PCR assay to determine CYP21A2 gene dose in the diagnosis of 21-hydroxylase deficiency
Clinical Chemistry, Vol. 53, Núm. 9, pp. 1577-1584
2006
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High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect
Clinical Endocrinology, Vol. 64, Núm. 3, pp. 330-336
2005
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Kallmann's syndrome with a novel missense mutation in the KAL1 gene that modifies the major cell adhesion site of the anosmin-1 protein
Journal of Pediatric Endocrinology and Metabolism, Vol. 18, Núm. 6, pp. 545-548
2003
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Phenotypic gender differences in subjects with familial partial lipodystrophy (dunnigan variety) due to a nuclear lamin A/C R482W mutation
Hormone and Metabolic Research, Vol. 35, Núm. 1, pp. 29-35
2002
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Novel mutation involving the translation initiation codon of the growth hormone receptor gene (GHR) in a patient with Laron syndrome
Journal of Pediatric Endocrinology and Metabolism, Vol. 15, Núm. 7, pp. 1041-1045
2001
2000
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Tumour prothymosin alpha content, a potential prognostic marker for primary breast cancer
British Journal of Cancer, Vol. 82, Núm. 3, pp. 584-590
1999
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Complex regulation of prothymosin alpha in mammary tumors arising in transgenic mice
Life Sciences, Vol. 64, Núm. 23, pp. 2125-2133
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The C494F variant in the CYP11B1 gene is a sequence polymorphism in the Spanish population [5]
Journal of Clinical Endocrinology and Metabolism
1998
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A c-myc antisense oligonucleotide inhibits human retinal pigment epithelial cell proliferation
Experimental Eye Research, Vol. 66, Núm. 5, pp. 581-589
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Progress in methodology and standards in European molecular genetics laboratories
Clinica Chimica Acta
1997
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Development of ELISA to estimate thymosin α1, the N terminus of prothymosin α, in human tumors
Clinical Chemistry, Vol. 43, Núm. 1, pp. 59-63
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Prothymosin alpha distribution in normal and tumoral tissues
International Journal of Thymology, Vol. 5, Núm. 8-9, pp. 474-476