Celsa
Quinteiro García
Publicacións nas que colabora con Celsa Quinteiro García (10)
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
2010
2009
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Anagrelide treatment in early pregnancy in a patient with JAK2V617F-positive essential thrombocythemia: Case report and literature review
Acta Haematologica, Vol. 122, Núm. 4, pp. 221-222
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Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system.
Human mutation, Vol. 30, Núm. 2
2008
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
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
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