Genomics and pharmacogenomics of cluster headache: implications for personalized management? A systematic review [0.03%]
遗传学和药理遗传学在丛集性头痛的个性化治疗中的应用系统评价
Ulker Isayeva,Pasquale Paribello,Enrico Ginelli et al.
Ulker Isayeva et al.
The role of genetic factors in cluster headache etiology, suggested by familial and twin studies, remains ill-defined, with the exact pathophysiological mechanisms still largely elusive. This systematic review aims to synthesize current kno...
Wenzhu Ye,Ruo Su Zhang,Georgina M Hosang et al.
Wenzhu Ye et al.
Background: Previous studies have shown that genes in brain development pathways may have important roles in affecting risk of suicidal behaviors, with our previous meta-analysis supporting a role of the brain-derived neu...
A new case with coexistence of mosaic 48,XYYY/47,XYY, and CACNA1E variant in autism spectrum disorder [0.03%]
嵌合型48,XYYY/47,XYY和CACNA1E变异共存于自闭症光谱障碍的新病例报告
Aysel Kalayci,Deniz Agirbasli,Nihal Serdengecti et al.
Aysel Kalayci et al.
Autism spectrum disorder (ASD) is a genetically heterogeneous neurobehavioral disorder. The etiology and the inheritance pattern are usually multifactorial. The index case is a 3-year-old male, whose family applied to the child psychiatry o...
Genetic association of SLC6A3 (dopamine transporter) gene polymorphisms with personality disorders and substance abuse disorders: a systematic review and meta-analysis [0.03%]
多巴胺转运体基因多态性与人格障碍和物质滥用障碍的遗传关联：系统评价和meta分析
Angeliki V Vogiatzoglou,Panagiota I Kontou,Pantelis G Bagos et al.
Angeliki V Vogiatzoglou et al.
Introduction: Personality disorders (PD) are characterized by socially dysfunctional behavioral patterns that affect patients and show higher incidence rates within families. Substance abuse disorders (SAD) are exemplifie...
Genetic association of SLC6A3 (dopamine transporter) gene polymorphisms with personality disorders and substance abuse disorders: a systematic review and meta-analysis [0.03%]
多巴胺转运蛋白基因多态性与人格障碍和物质使用障碍遗传关联的系统评价和meta分析
Angeliki V Vogiatzoglou,Panagiota I Kontou,Pantelis G Bagos et al.
Angeliki V Vogiatzoglou et al.
Introduction: Personality disorders (PD) are characterized by socially dysfunctional behavioral patterns that affect patients and show higher incidence rates within families. Substance abuse disorders (SAD) are exemplifie...
The association among multiple-site chronic pain, sedentary behavior, and major depressive disorders: a mendelian randomization study [0.03%]
多部位慢性疼痛、久坐行为和重度抑郁障碍之间的关联：一项孟德尔随机化研究
Nan-Xi Li,Cheng-Feng Chen,Bin Zhang
Nan-Xi Li
Objective: Observational studies have reported that major depressive disorder (MDD) is associated with sedentary behavior (SB) and multiple chronic pain (MCP), but their associations remain unclear. Mendelian randomizatio...
Prenatal diagnosis and molecular cytogenetic analyses of a homozygous Robertsonian translocation family with novel mosaic Robertsonian fission karyotype [0.03%]
罗伯逊易位携带者家庭的产前诊断及分子细胞遗传学分析
Zhen Xu,Huili Luo,Manman Li et al.
Zhen Xu et al.
Background: Approximately one person in 1000 is a Robertsonian translocation carrier. Errors in the formation of eggs (or more rarely of sperms) may be the cause of Robertsonian translocation. Most Robertsonian translocat...
Further evidence of the role of microRNA in schizophrenia: a case report [0.03%]
微RNA在精神分裂症中作用的进一步证据：一例报告
Cecilia Sanjuan-Ortiz,Luis M Rojo-Bofill,Monica Rosello et al.
Cecilia Sanjuan-Ortiz et al.
According to the neurodevelopmental hypothesis of schizophrenia, genetic predisposing factors cause abnormalities in neural functions, leading to the disease. A 2-year follow-up of a young woman with schizophrenia is presented. Karyotype, A...
Whole-exome sequencing implicates 16p13.2 as a risk locus for attention-deficit/hyperactivity disorder in the Faroese population [0.03%]
全外显子组测序将16p13.2鉴定为法罗岛人群中注意力缺陷/多动障碍风险位点
Noomi O Gregersen,Leivur N Lydersen,Marjun Biskopstø et al.
Noomi O Gregersen et al.
Arginine, glycine, and creatine supplementation improves symptoms in a female with creatine transporter deficiency [0.03%]
精氨酸、甘氨酸和肌酸补充改善了肌酸转运蛋白缺乏症患者的症状
Kara Tauer,Caroline Theile,Joshua W Owens et al.
Kara Tauer et al.
X-linked creatine transporter deficiency is caused by hemizygous or heterozygous pathogenic variants in SLC6A8 that cause neuropsychiatric symptoms because of impaired uptake of creatine into tissues throughout the body. Small cohorts have ...