Salud Pública y Materno-Infantil
Saila
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Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas
Madrid, EspañaCentro de Investigaciones Energéticas, Medioambientales y Tecnológicas-ko ikertzaileekin lankidetzan egindako argitalpenak (11)
2020
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Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies
Journal of Medical Genetics, Vol. 57, Núm. 4, pp. 258-268
2013
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A novel mutation I215V in the PRNP gene associated with Creutzfeldt-Jakob and Alzheimer's diseases in three patients with divergent clinical phenotypes
Journal of Neurology, Vol. 260, Núm. 1, pp. 77-84
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Recessive dystrophic epidermolysis bullosa: The origin of the c.6527insC mutation in the Spanish population
British Journal of Dermatology
2011
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Chromosome fragility in patients with Fanconi anaemia: Diagnostic implications and clinical impact
Journal of Medical Genetics, Vol. 48, Núm. 4, pp. 242-250
2010
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A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families
BMC Medical Genetics, Vol. 11, Núm. 1
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Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis Bullosa, Distrophic
Human Genetics
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Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica
Human Genetics
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Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica
Human Genetics
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Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa
Journal of Investigative Dermatology, Vol. 130, Núm. 10, pp. 2407-2411
2009
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Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.
Human genetics, Vol. 126, Núm. 2, pp. 334
2007
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A comprehensive strategy for the subtyping of patients with Fanconi anaemia: Conclusions from the Spanish Fanconi Anemia Research Network
Journal of Medical Genetics, Vol. 44, Núm. 4, pp. 241-249