Associated Papers
Functional Evaluation of Neural Tube Defect-Related Missense Mutations Using In Silico Methods.
Biterge Sut B
Birth Defects Research, 2025
Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects.
Martínez-Pizarro A et al.
Plos One, 2016
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN et al.
Human Genetics, 2013
Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects.
Richard E et al.
Journal of Cellular Biochemistry, 2013
Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases.
Pérez B et al.
Molecular Genetics and Metabolism, 2012
Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type.
Jorge-Finnigan A et al.
Biochimica Et Biophysica Acta, 2010
Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation.
Gherasim C et al.
Human Mutation, 2007
Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism.
Wilson A et al.
Human Molecular Genetics, 1999
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