Vildan Ak,Husna Kaan,Ali Karayagmurlu
Vildan Ak
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with an increasing prevalence. Genetic factors play an important role in the etiology of ASD, and researchers and clinicians have shown increasing interest in understanding the...
Familial co-occurrence of autism spectrum disorder and 47 XYY syndrome: revisiting the role of Y chromosome dosage in neurodevelopment [0.03%]
孤独症谱系障碍和47,XYY综合征的家族共病：重新审视性染色体剂量在神经发育中的作用
Mehri Durak,Halenur Teke
Mehri Durak
We describe a rare familial occurrence involving two brothers: one diagnosed with autism spectrum disorder (ASD), and the other with a postnatally confirmed 47 XYY karyotype exhibiting autistic traits below the diagnostic threshold. The you...
Genetic correlation between inflammatory bowel disease and educational attainment: unveiling shared genetic mechanisms [0.03%]
炎症性肠病与受教育年限之间的遗传相关性：揭示共享的遗传机制
Zhonghua Hong,Hezhai Yin
Zhonghua Hong
Background: A potential genetic link between inflammatory bowel disease (IBD) and educational attainment has been suggested. Understanding the underlying mechanisms of this genetic relationship is crucial for advancing th...
Are polygenic scores for psychiatric and substance use outcomes "ready" for clinical application? Current state and next steps [0.03%]
多基因评分在精神病学和物质使用结果的临床应用中是否已经“准备好”？现状及未来步骤
Danielle M Dick,Genevieve F Dash,I-Tzu Hung et al.
Danielle M Dick et al.
Despite drastic advances in psychiatric genetics, comparatively little attention has focused on the translation of those discoveries into real-world impact. This paper reviews the processes and considerations for integrating new techniques ...
Prenatal diagnosis and genetic counseling for three cases of fetuses with low-level mosaic Turner syndrome [0.03%]
低水平嵌合型特纳综合征胎儿的产前诊断及遗传咨询三例
Hongbo Dai,Quanlun Li,Yan Quan
Hongbo Dai
Turner syndrome, also referred to as congenital ovarian hypoplasia syndrome, is the most common sex chromosomal abnormality found in females. It results when one of the X chromosomes is missing, partially or completely. About half of the po...
Elucidation of crucial metabolic pathways in the etiology of autism spectrum disorder through whole exome sequencing and chromosomal microarray [0.03%]
通过外显子组测序和染色体微阵列技术阐明自闭症光谱障碍致病的关键代谢途径
Shaik Mohammad Naushad,Shaik Esdhan Basha,Yadam Reddy Kanaka Durga Devi et al.
Shaik Mohammad Naushad et al.
Background: Autism spectrum disorder (ASD) has a complex genetic etiology, with limited data from Indian populations. This study delineates the genetic architecture of ASD in Indian children using whole exome sequencing (...
Prenatal diagnosis and genetic counselling of a rare de-novo 12p13.33p13.32 deletion and 15q26.2q26.3 duplication in a Chinese family [0.03%]
中国人罕见的新生12p13.33p13.32缺失和15q26.2q26.3重复产前诊断及遗传咨询案例报道
Zhenzhen Zhang,Wei Wang,Jin Xiong et al.
Zhenzhen Zhang et al.
Background: Copy number variants are an important source of normal and pathogenic genome variations. Constitutional deletions involving the distal part of the short arm of chromosome 12(12p13.33p13.32) are very rare. Thes...
The clinical significance of miR-484 in depression of older people with Alzheimer's disease and its potential role on depressive behavior [0.03%]
miR-484在阿尔茨海默病伴发抑郁症中的临床意义及其潜在作用机制研究
Shuai Teng,Jingxia Ma,Xichun Wang et al.
Shuai Teng et al.
Objective: MicroRNAs exhibit remarkable potential as biomarkers due to their multiple advantages in Alzheimer's disease (AD). This study aimed to explore the significance of miR-484 in AD. ...
Genetic predisposition and the role of homocysteine in a female with late diagnosis of autism [0.03%]
孤独症女性的基因易感性和同型半胱氨酸的作用
George Zografakis,Katerina Papanikolaou,Niki Pehlivanidi et al.
George Zografakis et al.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social interaction and communication, as well as restricted and repetitive behaviors. Although ASD often manifests during early childhood, many ind...
What do European clinical guidelines say about genetic testing for people with neuropsychiatric disorders? A scoping review [0.03%]
欧洲临床指南对神经精神疾病患者的基因检测有何建议？一项题录检索式综述
Izemnur Arican,Marte van der Horst,Nicholas Bass et al.
Izemnur Arican et al.
Genomic medicine has progressed rapidly, and many high-risk genetic variants for neuropsychiatric disorders have now been identified. However, clinical genetic testing is rarely utilized in psychiatric settings. This scoping review examined...