Pediatría
Servicio
Publicacións nas que colabora con Lourdes Loidi Fernández (15)
2024
-
Granulomatous rosacea: a clue to the diagnosis of STAT1 gain of function in a child with immunodeficiency
Clinical and Experimental Dermatology, Vol. 49, Núm. 5, pp. 516-518
2019
-
Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy
Journal of Human Genetics, Vol. 64, Núm. 11, pp. 1133-1136
-
Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation
Case Reports in Endocrinology, Vol. 2019
2017
-
Autosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM gene
Genes and Immunity, Vol. 18, Núm. 3, pp. 197-199
2015
-
Precocious presentation of autoimmune polyglandular syndrome type 2 associated with an AIRE mutation
Hormones, Vol. 14, Núm. 2, pp. 312-316
2011
-
CAMT in a female with developmental delay, facial malformations and central nervous system anomalies
Pediatric Blood and Cancer, Vol. 56, Núm. 3, pp. 452-453
-
Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type
BMC Medical Genetics, Vol. 12
2010
-
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
2008
-
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
2006
-
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
-
Genetic basis of short stature
Journal of Endocrinological Investigation
-
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
-
Therapeutic optimization of growth hormone deficiency in children and adolescents
Journal of Pediatric Endocrinology and Metabolism, Vol. 17, Núm. SUPPL. 3, pp. 401-410
2002
-
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
1999
-
The C494F variant in the CYP11B1 gene is a sequence polymorphism in the Spanish population [5]
Journal of Clinical Endocrinology and Metabolism