FERNANDO
DOMINGUEZ PUENTE
Emeritus university professor
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Complexo Hospitalario Universitario de Santiago
Santiago de Compostela, EspañaPublications in collaboration with researchers from Complexo Hospitalario Universitario de Santiago (15)
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
2011
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Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: Prevalence, evolution of hormone dysfunction and genetic analysis
Neuroendocrinology, Vol. 93, Núm. 3, pp. 181-188
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
2004
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Abnormal cell cycle regulation in primary human uveal melanoma cultures
Journal of Cellular Biochemistry, Vol. 93, Núm. 4, pp. 708-720
2003
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Amniotic membrane as support for human retinal pigment epithelium (RPE) cell growth
Acta Ophthalmologica Scandinavica, Vol. 81, Núm. 3, pp. 271-277
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Inhibition of Cdk4 activity enhances translation of p27kip1 in quiescent Rb-negative cells
Journal of Biological Chemistry, Vol. 278, Núm. 15, pp. 12688-12695
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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
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TGF-β-induced apoptosis in human thyrocytes is mediated by p27 kip1 reduction and is overridden in neoplastic thyrocytes by NF-κB activation
Oncogene, Vol. 22, Núm. 49, pp. 7819-7830
1999
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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
1992
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Prothymosin α mRNA levels are invariant throughout the cell cycle
Journal of Biological Chemistry, Vol. 267, Núm. 12, pp. 8692-8695