Associated Papers
Relevance of Plasma Homocysteine and Methylenetetrahydrofolate Reductase 677TT Genotype in Sickle Cell Disease: A Systematic Review and Meta-Analysis.
Ames PRJ et al.
International Journal of Molecular Sciences, 2022
Oral manifestations associated with inherited hyperhomocysteinemia: A first case description.
Husseini B et al.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2022
Seven novel genetic variants in a North Indian cohort with classical homocystinuria.
Kaur R et al.
Scientific Reports, 2020
Cystathionine β-synthase and methylenetetrahydrofolate reductase mutations in Mexican individuals with hyperhomocysteinemia.
Figueroa-Torres AG et al.
Sage Open Medicine, 2020
The Effects of Homocysteine on the Skeleton.
Saito M et al.
Current Osteoporosis Reports, 2018
Decreased serum pyridoxal levels in schizophrenia: meta-analysis and Mendelian randomization analysis.
Tomioka Y et al.
Journal of Psychiatry & Neuroscience : Jpn, 2018
Impact of genetic polymorphisms in key enzymes of homocysteine metabolism on the pathophysiology of sickle cell anemia.
da Silva DGH et al.
Free Radical Biology & Medicine, 2017
Rs6586282 of the CBS Gene: Its Lack of Eff ect on Homocysteine Concentrations, and Interaction Eff ects on Body Weight in Elderly Women.
Chmurzynska A et al.
International Journal for Vitamin and Nutrition Research. Internationale Zeitschrift Fur Vitamin- Und Ernahrungsforschung. Journal International De Vitaminologie Et De Nutrition, 2016
Molecular and biochemical investigations of patients with intermediate or severe hyperhomocysteinemia.
Sørensen JT et al.
Molecular Genetics and Metabolism, 2016
Non-syndromic cleft lip with or without cleft palate in Asian populations: Association analysis on three gene polymorphisms of the folate pathway.
Martinelli M et al.
Archives of Oral Biology, 2016
Acute psychosis in an adolescent with undiagnosed homocystinuria.
Colafrancesco G et al.
European Journal of Pediatrics, 2015
Methylation diet and methyl group genetics in risk for adenomatous polyp occurrence.
Lucock M et al.
Bba Clinical, 2015
Correlation between cystathionine β-synthase T883C genetic polymorphism and primary hypertension.
Zhang Y et al.
Experimental and Therapeutic Medicine, 2014
A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis.
Sarov M et al.
Journal of the Neurological Sciences, 2014
A functional variant in the cystathionine β-synthase gene promoter significantly reduces congenital heart disease susceptibility in a Han Chinese population.
Zhao JY et al.
Cell Research, 2013
Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family.
Stabler SP et al.
Jimd Reports, 2013
Evaluation of plasma homocysteine level according to the C677T and A1298C polymorphism of the enzyme MTHRF in type 2 diabetic adults.
Mello AL et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2012
Genetic studies of the cystathionine beta-synthase gene and myelomeningocele.
Tilley MM et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2012
Genotype-independent in vivo oxidative stress following a methionine loading test: maximal platelet activation in subjects with early-onset thrombosis.
Di Minno MN et al.
Thrombosis Research, 2011
Placental markers of folate-related metabolism in preeclampsia.
Mislanova C et al.
Reproduction (cambridge, England), 2011
Mutations in methylenetetrahydrofolate reductase and in cysthationine beta synthase: is there a link to homocysteine levels in peripheral arterial disease?
Santos ME et al.
Molecular Biology Reports, 2011
Classical familial homocystinuria in an adult presenting as an isolated lens subluxation.
Martínez-Gutiérrez JD et al.
International Ophthalmology, 2011
The 844ins68 cystathionine beta-synthase and C677T MTHFR gene polymorphism and the vaso-occlusive event risk in sickle cell disease.
Alves Jacob M et al.
Archives of Medical Science : Ams, 2011
Vascular complications of cystathionine β-synthase deficiency: future directions for homocysteine-to-hydrogen sulfide research.
Beard RS et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2011
Folate pathway and nonsyndromic cleft lip and palate.
Blanton SH et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2011
[Homocysteine-related genes and attention in patients with schizophrenia and schizoaffective psychosis].
Golimbet VE et al.
Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2010
The allele frequencies of three polymorphisms in genes involved in homocysteine metabolism in a group of unrelated healthy Singaporeans.
Chen C et al.
Disease Markers, 2010
A novel mutation of cystathionine beta-synthase gene in a Thai boy with homocystinuria.
Sirachainan N et al.
Journal of Pediatric Hematology/oncology, 2009
Cystathionine B-Synthase 844ins68 Gene Variant and Idiopathic Male Infertility.
Singh K et al.
Reproductive Sciences (thousand Oaks, Calif.), 2009
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
[Effect of polymorphisms on key enzymes in homocysteine metabolism, on plasma homocysteine level and on coronary artery-disease risk in a Tunisian population].
Belkahla R et al.
Annales De Cardiologie Et D'angeiologie, 2008
GST M1/T1 and MTHFR polymorphisms as risk factors for hypertension.
Marinho C et al.
Biochemical and Biophysical Research Communications, 2007
Role of hyperhomocystinemia in retinal vascular occlusive disease.
Sottilotta G et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2007
High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.
Bermúdez M et al.
Human Mutation, 2006
[A case-control study on congenital heart diseases with methylenetetrahydrofolate reductase gene, cystathionine beta-synthase gene, and environmental factors].
Qiu XQ et al.
Zhonghua Liu Xing Bing Xue Za Zhi = Zhonghua Liuxingbingxue Zazhi, 2006
Cystathionine beta-synthase T833C/844INS68 polymorphism: a family-based study on mentally retarded children.
Dutta S et al.
Behavioral and Brain Functions : Bbf, 2005
Molecular analysis of homocystinuria in Brazilian patients.
Porto MP et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2005
[Hyperhomocysteinemia: associated obstetric diabetes and fetal malformations].
Rugolo S et al.
Minerva Ginecologica, 2005
Modeling premature occurrence of acute coronary syndrome with atherogenic and thrombogenic risk factors and gene markers in extended families.
Grassi M et al.
Journal of Thrombosis and Haemostasis : Jth, 2005
Relevance of post-methionine homocysteine and lipoprotein (a) in evaluating the cardiovascular risk in young CAD patients.
Marcucci R et al.
European Journal of Clinical Investigation, 2005
[Clinical outcome of beta blocker therapy in a patient with long QT syndrome with a critical mutation in the pore of potassium channel].
Barragán Acea A et al.
Medicina Clinica, 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
Isolated thrombosis due to the cystathionine beta-synthase mutation c.833T>C (1278T).
Linnebank M et al.
Journal of Inherited Metabolic Disease, 2003
High frequency of the 844ins68 cystathionine-beta-synthase gene variant in Down syndrome children with acute myeloid leukemia.
Ge Y et al.
Leukemia, 2002
Genetic risk factors in young adults with 'cryptogenic' ischemic cerebrovascular disease.
Grossmann R et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2002
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
The C677T mutation in the methylenetetrahydrofolate reductase gene contributes to hyperhomocysteinemia in patients taking anticonvulsants.
Ono H et al.
Brain & Development, 2002
Genetic and molecular control of folate-homocysteine metabolism in mutant mice.
Ernest S et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2002
A polymorphism in the methylenetetrahydrofolate reductase gene predisposes to colorectal cancers with microsatellite instability.
Shannon B et al.
Gut, 2002
Plasma homocysteine concentration, C677T MTHFR genotype, and 844ins68bp CBS genotype in young adults with spontaneous cervical artery dissection and atherothrombotic stroke.
Pezzini A et al.
Stroke, 2002