A novel mutation of the MEN1 gene in a patient with multiple endocrine neoplasia type 1 and recurrent fibromyxoid sarcoma - a case report [0.03%]
具有多发性内分泌肿瘤综合征类型1和反复出现的纤维粘液样肉瘤的患者在MEN1基因中存在一种新的突变-病例报告
Maja Radman,Tanja Milicevic
Maja Radman
Background: Multiple endocrine neoplasia type 1 (MEN1) syndrome is usually accompanied by endocrine tumors, but non-endocrine tumors can occur as well. However, the coexistence of MEN1 syndrome and malignant tumor such as...
ADIPOQ single nucleotide polymorphisms and breast cancer in northeastern Mexican women [0.03%]
ADIPOQ单核苷酸多态性与墨西哥东北部女性乳腺癌的关系
Ricardo M Cerda-Flores,Karen Paola Camarillo-Cárdenas,Gabriela Gutiérrez-Orozco et al.
Ricardo M Cerda-Flores et al.
Background: Adiponectin gene (ADIPOQ) polymorphisms have been shown to affect adiponectin serum concentration and some have been associated with breast cancer (BC) risk. The aims of this study were to describe the frequen...
Genetic analysis of children with congenital ocular anomalies in three ecological regions of Nepal: a phase II of Nepal pediatric ocular diseases study [0.03%]
尼泊尔三个生态区域儿童先天性眼异常的基因分析：尼泊尔儿童眼科疾病研究二期
Srijana Adhikari,Neelam Thakur,Ujjowala Shrestha et al.
Srijana Adhikari et al.
Background: Genetic eye diseases constitute a large and heterogeneous group of childhood ocular morbidity. Individual diseases may cause multiple structural anomalies and developmental features. Nepal Pediatric Ocular Dis...
Genetic risk-factors for anxiety in healthy individuals: polymorphisms in genes important for the HPA axis [0.03%]
健康人群中焦虑的遗传风险因素：HPA轴中重要基因的多态性
Heléne Lindholm,India Morrison,Alexandra Krettek et al.
Heléne Lindholm et al.
Background: Two important aspects for the development of anxiety disorders are genetic predisposition and alterations in the hypothalamic-pituitary-adrenal (HPA) axis. In order to identify genetic risk-factors for anxiety...
Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report [0.03%]
丙酸血症和高同型半胱氨酸血症的初步表现蛋白尿的病例报告
Ru-Yue Chen,Xiao-Zhong Li,Qiang Lin et al.
Ru-Yue Chen et al.
Background: Disorders of the metabolism and absorption of vitamin B12 can lead to decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase (MMUT), which results in increased levels of methylmalon...
A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report [0.03%]
EFTUD2基因中一个新的同义变异破坏了正常的剪接并导致下颌面骨发育不良伴小头畸形：病例报告
Arthur Jacob,Jennifer Pasquier,Raphael Carapito et al.
Arthur Jacob et al.
Background: Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant genetic disease characterized by intellectual and growth retardations, as well as major microcephaly, induced by missense and sp...
Impacts of CR1 genetic variants on cerebrospinal fluid and neuroimaging biomarkers in alzheimer's disease [0.03%]
CR1基因变异对阿尔茨海默病脑脊液和神经影像生物标志物的影响
Xi-Chen Zhu,Wen-Zhuo Dai,Tao Ma
Xi-Chen Zhu
Background: The complement component (3b/4b) receptor 1 gene (CR1) gene has been proved to affect the susceptibility of Alzheimer's disease (AD) in different ethnic and districts groups. However, the effect of CR1 genetic...
A novel TSC2 c.4511 T > C missense variant associated with tuberous sclerosis complex [0.03%]
与结节性硬化症相关的新型TSC2 c.4511 T > C错义变异
Shunzhi He,Na Lv,Hongchu Bao et al.
Shunzhi He et al.
Background: Tuberous sclerosis complex (TSC) is an autosomal-dominant hereditary disease characterized by hamartomas of multiple organ systems, including the brain, skin, heart, kidney and lung. Genetically, TSC is caused...
Increased cardiovascular mortality in females with the a/a genotype of the SNPs rs1478604 and rs2228262 of thrombospondin-1 [0.03%]
血小板生成素-1基因SNPs位点rs1478604和rs2228262的a/a基因型女性心血管病死亡率升高
Urban Alehagen,Levar Shamoun,Dick Wågsäter
Urban Alehagen
Background: Cardiovascular diseases are still the major cause of death in the Western world, with different outcomes between the two genders. Efforts to identify those at risk are therefore given priority in the handling ...
Risk prediction for coronary heart disease by a genetic risk score - results from the Heinz Nixdorf Recall study [0.03%]
通过基因危险分数预测冠心病的发病风险-来自海因茨•尼克斯多夫回忆研究的结果
Sonali Pechlivanis,Nils Lehmann,Per Hoffmann et al.
Sonali Pechlivanis et al.
Background: A Genetic risk score for coronary artery disease (CAD) improves the ability of predicting coronary heart disease (CHD). It is unclear whether i) the use of a CAD genetic risk score is superior to the measureme...