Guiomar
Pérez de Nanclares Leal
Universidad Autónoma de Madrid
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Universidad Autónoma de Madrid (8)
2020
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Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants
The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8
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Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients
Hormone Research in Paediatrics, Vol. 93, Núm. 3, pp. 182-196
2019
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Implication in Paediatrics of the First International Consensus Statement for the Diagnosis and management of pseudohypoparathyroidism and related disorders
Anales de Pediatria, Vol. 90, Núm. 2, pp. 125.e1-125.e12
2018
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Brachydactyly type C due to a nonsense mutation in the GDF5 gene
Anales de Pediatria, Vol. 88, Núm. 2, pp. 107-109
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Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement
Nature Reviews Endocrinology, Vol. 14, Núm. 8, pp. 476-500
2011
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Constitutional mosaic genome-wide uniparental disomy due to diploidisation: An unusual cancer-predisposing mechanism
Journal of Medical Genetics, Vol. 48, Núm. 3, pp. 212-216
2010
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Neonatal diabetes caused by mutations in sulfonylurea receptor 1: Interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels
Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 12
2006
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Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress
Journal of Clinical Endocrinology and Metabolism, Vol. 91, Núm. 5, pp. 1832-1841