Associated Papers
Examination of Genetic and Epigenetic Characteristics of Patients with Hyperhomocysteinemia Following High-Dose Folic Acid Consumption.
Bartak BK et al.
Nutrients, 2025
Cystathionine β-synthase and methylenetetrahydrofolate reductase mutations in Mexican individuals with hyperhomocysteinemia.
Figueroa-Torres AG et al.
Sage Open Medicine, 2020
Association of cystathionine beta-synthase polymorphisms and aneurysmal subarachnoid hemorrhage.
Hendrix P et al.
Journal of Neurosurgery, 2018
Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.
Silao CL et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
Plasma homocysteine levels and genetic polymorphisms in folate metablism are associated with breast cancer risk in chinese women.
Wu X et al.
Hereditary Cancer in Clinical Practice, 2014
Folate-genetics and colorectal neoplasia: what we know and need to know next.
Figueiredo JC et al.
Molecular Nutrition & Food Research, 2013
Gain-of-function polymorphisms of cystathionine β-synthase and delayed cerebral ischemia following aneurysmal subarachnoid hemorrhage.
Grobelny BT et al.
Journal of Neurosurgery, 2011
Polymorphisms in folate metabolizing enzymes and transport proteins and the risk of breast cancer.
Kotsopoulos J et al.
Breast Cancer Research and Treatment, 2008
Influence of the cystathionine beta-synthase 844ins68 and methylenetetrahydrofolate reductase 677C>T polymorphisms on folate and homocysteine concentrations.
Summers CM et al.
European Journal of Human Genetics : Ejhg, 2008
A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case-control study.
Urreizti R et al.
Clinical Biochemistry, 2007
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.
Vyletal P et al.
Human Mutation, 2007
A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population.
El-Said MF et al.
Human Mutation, 2006
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
Urreizti R et al.
Journal of Human Genetics, 2006
Molecular analysis of homocystinuria in Brazilian patients.
Porto MP et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2005
Polymorphisms of genes involved in homocysteine metabolism in preeclampsia and in uncomplicated pregnancies.
Also-Rallo E et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2005
Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.
Lee SJ et al.
Journal of Human Genetics, 2005
Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.
Orendáè M et al.
Human Mutation, 2004
Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6.
De Lucca M et al.
Molecular Genetics and Metabolism, 2004
High-level multiplex genotyping of polymorphisms involved in folate or homocysteine metabolism by matrix-assisted laser desorption/ionization mass spectrometry.
Meyer K et al.
Clinical Chemistry, 2004
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.
Urreizti R et al.
Human Mutation, 2003
Genetics of hyperhomocysteinaemia in cardiovascular disease.
Lievers KJ et al.
Annals of Clinical Biochemistry, 2003
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
Maclean KN et al.
Human Mutation, 2002
Cystathionine beta-synthase mutations in homocystinuria.
Kraus JP et al.
Human Mutation, 1999
Linkage disequilibrium at the cystathionine beta synthase (CBS) locus and the association between genetic variation at the CBS locus and plasma levels of homocysteine. The Ears II Group. European Atherosclerosis Research Study.
De Stefano V et al.
Annals of Human Genetics, 1998
Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells.
Kraus JP et al.
Human Molecular Genetics, 1993
Gene-gene and gene-environment interactions in mild hyperhomocysteinemia.
D'Angelo A et al.
Pathophysiology of Haemostasis and Thrombosis, 0
[Homocysteine levels and polymorphisms of MTHFR and CBS genes in Colombian patients with superficial and deep venous thrombosis].
Ayala C et al.
Biomedica : Revista Del Instituto Nacional De Salud, 0