BLANCA
GENER QUEROL
Publicaciones (78) Publicaciones de BLANCA GENER QUEROL
2024
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Galunisertib downregulates mutant type I collagen expression and promotes MSCs osteogenesis in pediatric osteogenesis imperfecta
Biomedicine and Pharmacotherapy, Vol. 175
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Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder
Clinical Genetics, Vol. 105, Núm. 2, pp. 140-149
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Identification of copy-number variants in patients with overgrowth disorders
Clinical Genetics
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Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro
Cell and Tissue Research, Vol. 396, Núm. 2, pp. 255-267
2023
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Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas
Translational Pediatrics, Vol. 12, Núm. 9, pp. 1715-1724
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Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients
Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654
2022
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Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia
Journal of Medical Genetics, Vol. 59, Núm. 5, pp. 428-437
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Circulating TGF-β Pathway in Osteogenesis Imperfecta Pediatric Patients Subjected to MSCs-Based Cell Therapy
Frontiers in Cell and Developmental Biology, Vol. 10
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FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects
Genetics in Medicine, Vol. 24, Núm. 12, pp. 2475-2486
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PIGN encephalopathy: Characterizing the epileptology
Epilepsia, Vol. 63, Núm. 4, pp. 974-991
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Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals
Frontiers in Genetics, Vol. 13
2021
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Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy
European Heart Journal, Vol. 42, Núm. 32, pp. 3063-3073
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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)
Scientific Reports
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Scientific Reports, Vol. 11, Núm. 1
2020
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Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients
European Journal of Human Genetics, Vol. 28, Núm. 4, pp. 469-479
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Primrose syndrome: Characterization of the phenotype in 42 patients
Clinical Genetics, Vol. 97, Núm. 6, pp. 890-901
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Targeted next-generation sequencing in patients with suggestive X-linked intellectual disability
Genes, Vol. 11, Núm. 1
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The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil
Mutation Research - Genetic Toxicology and Environmental Mutagenesis, Vol. 852
2019
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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome (Genetics in Medicine, (2019), 21, 6, (1295-1307), 10.1038/s41436-018-0330-z)
Genetics in Medicine
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Suitability and limitations of mesenchymal stem cells to elucidate human bone illness
World Journal of Stem Cells, Vol. 11, Núm. 9, pp. 578-593