Publicacións nas que colabora con Lourdes Loidi Fernández (15)

2024

  1. 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

  1. Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy

    Journal of Human Genetics, Vol. 64, Núm. 11, pp. 1133-1136

  2. Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation

    Case Reports in Endocrinology, Vol. 2019

2017

  1. 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

  1. Precocious presentation of autoimmune polyglandular syndrome type 2 associated with an AIRE mutation

    Hormones, Vol. 14, Núm. 2, pp. 312-316

2011

  1. 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

  2. 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

  1. 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

  1. 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

  1. 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

  1. Genetic basis of short stature

    Journal of Endocrinological Investigation

  2. 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

  1. 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

  1. 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

  1. The C494F variant in the CYP11B1 gene is a sequence polymorphism in the Spanish population [5]

    Journal of Clinical Endocrinology and Metabolism