GUIOMAR
PÉREZ DE NANCLARES LEAL
Massachusetts General Hospital
Boston, Estados UnidosPublicaciones en colaboración con investigadores/as de Massachusetts General Hospital (11)
2024
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The Human Phenotype Ontology in 2024: phenotypes around the world
Nucleic acids research, Vol. 52, Núm. D1, pp. D1333-D1346
2020
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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
2018
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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
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Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity
Journal of Bone and Mineral Research, Vol. 33, Núm. 8, pp. 1480-1488
2012
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Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus
Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6
2011
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Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: Evidence for an autosomal recessive form of PHP-Ib?
Journal of Bone and Mineral Research, Vol. 26, Núm. 8, pp. 1854-1863
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Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus
Journal of Bone and Mineral Research, Vol. 26, Núm. 8, pp. 1864-1870
2010
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Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects
Journal of Medical Genetics, Vol. 47, Núm. 4, pp. 276-280
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Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: Potential for misdiagnosis of pseudohypoparathyroidism type 1B
Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 2, pp. 765-771
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New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism
European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962
2007
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Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy
Journal of Clinical Endocrinology and Metabolism, Vol. 92, Núm. 6, pp. 2370-2373