A 19q13 microdeletion syndrome presenting with punding, frangophilia, hypermetamorphosis, frontal lobe and vermal hypoplasia, with depression misdiagnosed as schizophrenia, treated with mirtazapine [0.03%]
以强迫性筑巢症、对法语的病态爱恋和过度翻箱倒柜行为为特征的19q13微缺失综合征，伴有额叶和小脑蚓部发育不全，误诊为精神分裂症的抑郁症使用米氮平治疗
João Gama Marques,Josef Finsterer
João Gama Marques
Chromosome 19q13 microdeletion syndrome is a rare genetic disorder characterized by prenatal and postnatal growth retardation, intellectual disability, expressive language impairment, ectodermal dysplasia, and slender habitus. We present a ...
Reflections on schizophrenia and genetics: a response to Gama Marques and Finsterer [0.03%]
关于精神分裂症和遗传学的反思：对Gama Marques和Finsterer的回应
Luis M Rojo-Bofill,Cecilia Sanjuan-Ortiz,Monica Rosello et al.
Luis M Rojo-Bofill et al.
How the human genome project has increased the prevalence of pseudoschizophrenia and decreased the prevalence of true schizophrenia? [0.03%]
人类基因组计划如何增加了假 schizophrenia 的流行率并降低了真 schizophrenia 的流行率？
João Gama Marques,Josef Finsterer
João Gama Marques
Investigation of cytochrome B mutations, and UCP2 and STC1 gene expressions in patients with bipolar disorder [0.03%]
双相障碍患者血红素B突变及UCP2和STC1基因表达的调查研究
Sevgi Karabulut Uzunçakmak,Halil Özcan,Ebubekir Dirican
Sevgi Karabulut Uzunçakmak
Objective: The aim herein was to investigate mitochondrial cytochrome B (MT-CYB) mutations in individuals with bipolar disorder. Stanniocalcin-1 (STC1) and uncoupling protein 2 (UCP2) mRNA expressions and their relationsh...
The diagnostic significance of miR-20b-5p in schizophrenia and its impact on the symptoms of schizophrenia [0.03%]
miR-20b-5p在精神分裂症诊断中的意义及其对精神分裂症症状的影响
Jianhui Li,Yao Cheng,Wei Lu
Jianhui Li
Objective: Schizophrenia is a long-term neurological condition that impacts the quality of life of patients. To explore the expression of miR-20b-5p in schizophrenia, to analyze the diagnostic role of miR-20b-5p in schizo...
A case of CHD2 variant-associated psychosis and response to treatment [0.03%]
CHD2变异相关的病态反应及治疗效果案例研究
Mark A Colijn,Iliana Ortega,Julie Lauzon
Mark A Colijn
Although psychotic symptoms have occasionally been associated with pathogenic CHD2 variants, few articles have provided phenotypic information in this respect or described treatment response. We describe an 18-year-old female with a 15q26.1...
Adult-onset metachromatic leukodystrophy: a novel genotype with a distinct phenotype [0.03%]
成人发病的异染性白质脑病：一种具有特殊表型的新基因类型
Levent Şimşek,Sena Özden,Mehmet Ak et al.
Levent Şimşek et al.
Background: Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by the deficiency of arylsulfatase A (ARSA). Accumulation of sulfatide, substrate of ARSA, in the central and peripheral nervous system...
A review of antipsychotic therapy effectiveness and tolerability among individuals with copy number variants relevant to schizophrenia [0.03%]
拷与精神分裂症相关的基因副本数变异的人抗精神病治疗的有效性和耐受性综述
Mark A Colijn
Mark A Colijn
Although numerous copy number variants (CNVs) are considered pathogenic with respect to the development of schizophrenia, only eight loci have reached genome-wide significance. Reviews/studies characterizing antipsychotic use in this contex...
Prenatal diagnosis and genetic counseling of a Chinese family with inherited multiple chromosomal microduplications [0.03%]
具有遗传性多重染色体微重复的一家中国家庭的产前诊断和遗传咨询
Fang Hu,Guoqiong Zhang
Fang Hu
Background: Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Chromosomal microdeletions and microduplications have long been associated with abnormal developmental outcomes. ...