GUIOMAR
PEREZ DE NANCLARES LEAL
PROFESORADO ASOCIADO
Hospital Infantil Universitario Niño Jesus de Madrid
Madrid, EspañaPublicaciones en colaboración con investigadoras/es de Hospital Infantil Universitario Niño Jesus de Madrid (14)
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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Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
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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
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What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis
BMC Medical Genetics, Vol. 19, Núm. 1
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
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PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance
Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 12
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Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene
PLoS ONE, Vol. 7, Núm. 1
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
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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
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Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
Proceedings of the National Academy of Sciences of the United States of America, Vol. 107, Núm. 7, pp. 3105-3110
2007
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The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities
Diabetic Medicine, Vol. 24, Núm. 7, pp. 707-713