ELENA
VALLESPÍN GARCÍA
Profesora asociada
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (18)
2023
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OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population
Current Issues in Molecular Biology, Vol. 45, Núm. 1, pp. 465-478
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Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts
International Journal of Molecular Sciences, Vol. 24, Núm. 14
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Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia
International Journal of Molecular Sciences, Vol. 24, Núm. 21
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Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus
Genes, Vol. 14, Núm. 10
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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Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency
American Journal of Medical Genetics, Part A, Vol. 179, Núm. 8, pp. 1591-1597
2018
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In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype
Revista Espanola de Cardiologia, Vol. 71, Núm. 7, pp. 545-552
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mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review
Clinical Genetics, Vol. 93, Núm. 4, pp. 762-775
2017
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A new variant in PHKA2 is associated with glycogen storage disease type IXa
Molecular Genetics and Metabolism Reports, Vol. 10, pp. 52-55
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FGF9 mutation causes craniosynostosis along with multiple synostoses
Human Mutation, Vol. 38, Núm. 11, pp. 1471-1476
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Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta
Molecular Genetics and Genomic Medicine, Vol. 5, Núm. 1, pp. 28-39
2014
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Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier
BMC Medical Genetics, Vol. 15, Núm. 1
2013
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High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population
Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1
2012
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Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes
American Journal of Medical Genetics, Part A, Vol. 158 A, Núm. 11, pp. 2963-2968
2011
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Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype
American Journal of Human Genetics, Vol. 89, Núm. 2, pp. 295-301
2009
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Frequency of ABCA4 mutations in 278 Spanish controls: An insight into the prevalence of autosomal recessive Stargardt disease
British Journal of Ophthalmology, Vol. 93, Núm. 10, pp. 1359-1364
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Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: Identification of 21 novel variants
British Journal of Ophthalmology, Vol. 93, Núm. 5, pp. 614-621