LUCÍA
SENTCHORDI MONTANE
Profesora asociada de Ciencias de la Salud
Hospital Infanta Leonor
Madrid, EspañaPublicacións en colaboración con investigadores/as de Hospital Infanta Leonor (11)
2023
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Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases
Clinical Genetics, Vol. 104, Núm. 1, pp. 100-106
2022
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Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia
Journal of Medical Genetics, Vol. 59, Núm. 1, pp. 28-38
2021
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High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies
European Journal of Endocrinology, Vol. 185, Núm. 5, pp. 691-705
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Identification of the third FGF9 variant in a girl with multiple synostosis–comparison of the genotype:phenotype of FGF9 variants in humans and mice
Clinical Genetics, Vol. 99, Núm. 2, pp. 309-312
2020
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Improvisation in times of pandemic, a reason for reflection
International Journal of Infectious Diseases
2018
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Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature
Clinical Endocrinology, Vol. 88, Núm. 6, pp. 820-829
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Mutations in C-natriuretic peptide (NPPC): A novel cause of autosomal dominant short stature
Genetics in Medicine, Vol. 20, Núm. 1, pp. 91-97
2017
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Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia
Clinical Genetics, Vol. 92, Núm. 1, pp. 91-98
2016
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Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations
American Journal of Medical Genetics, Part A, Vol. 170, Núm. 1, pp. 210-216
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
2009
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Enfermedad de Kawasaki
Acta Pediatrica Espanola, Vol. 67, Núm. 7, pp. 330-332