Anencephaly And Spina Bifida X-linked
Last Posted: Jul 25, 2018
- Polymorphism rs1052536 in Base Excision Repair Gene Is a Risk Factor in a High-Risk Area of Neural Tube Defects in China.
Li Guannan, et al. Medical science monitor : international medical journal of experimental and clinical research 2018 7 5015-5026
- Maternal Association and Influence of DHFR 19bp Deletion Variant Predisposes Fetus to Anencephaly Susceptibility: A Family-based Triad Study.
Prasoona K R, et al. Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals 2018 4 1-19
- Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort.
Chen Zhongzhong, et al. Human genetics 2018 2
- Association between PKA gene polymorphism and NTDs in high risk Chinese population in Shanxi.
Wu Jian, et al. International journal of clinical and experimental pathology 2013 0 (12) 2968-74
- Variants in maternal COMT and MTHFR genes and risk of neural tube defects in offspring.
Liu Jufen, et al. Metabolic brain disease 2015 4 (2) 507-13
- Functional variant in methionine synthase reductase intron-1 is associated with pleiotropic congenital malformations.
Cheng Haiqin, et al. Molecular and cellular biochemistry 2015 9 (1-2) 51-6
- Association between maternal COMT gene polymorphisms and fetal neural tube defects risk in a Chinese population.
Liu Jufen, et al. Birth defects research. Part A, Clinical and molecular teratology 2014 1 (1) 22-9
- Association study of PARD3 gene polymorphisms with neural tube defects in a Chinese Han population.
Gao Yonghui, et al. Reproductive sciences (Thousand Oaks, Calif.) 2012 7 (7) 764-71
- Effect on risk of anencephaly of gene-nutrient interactions between methylenetetrahydrofolate reductase C677T polymorphism and maternal folate, vitamin B12 and homocysteine profile.
Lacasaña Marina, et al. Public health nutrition 2012 8 (8) 1419-28
- Glutamate carboxypeptidase II gene polymorphisms and neural tube defects in a high-risk Chinese population.
Xie Hua, et al. Metabolic brain disease 2012 3 (1) 59-65
- Methylenetetrahydrofolate reductase gene polymorphisms and the risk of anencephaly in Mexico.
Muñoz Julia Blanco, et al. Molecular human reproduction 2007 6 (6) 419-24
- Folate levels and N(5),N(10)-methylenetetrahydrofolate reductase genotype (MTHFR) in mothers of offspring with neural tube defects: a case-control study.
Martínez de Villarreal L E, et al. Archives of medical research 0 0 (4) 277-82
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
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- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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