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Whole-exome-based single nucleotide variants and copy number analysis for prenatal diagnosis of compound heterozygosity of SMPD4
Whole-exome-based single nucleotide variants and copy number analysis for prenatal diagnosis of compound heterozygosity of SMPD4
Background Biallelic loss-of-function variants in SMPD4 cause a rare and severe neurodevelopmenta
A pathogenic P4HTM gene variant in two brothers with autism spectrum disorder
A pathogenic P4HTM gene variant in two brothers with autism spectrum disorder
Autism spectrum disorder is a neurodevelopmental condition that involves limitations in social commu
The ethics of polygenic scores in psychiatry: minefield or opportunity for patient-centered psychiatry?
The ethics of polygenic scores in psychiatry: minefield or opportunity for patient-centered psychiatry?
Recent advancements in psychiatric genetics have sparked a lively debate on the opportunities and pi
Mechanism of electroconvulsive therapy in schizophrenia: a bioinformatics analysis study of RNA-seq data
Mechanism of electroconvulsive therapy in schizophrenia: a bioinformatics analysis study of RNA-seq data
Objective The molecular mechanism of electroconvulsive therapy (ECT) for schizophrenia remains un
Causal link between gut microbiome and schizophrenia: a Mendelian randomization study
Causal link between gut microbiome and schizophrenia: a Mendelian randomization study
Objective Some observational studies have shown that gut microbiome is significantly changed in p
Maternal 15q11.2-q13.1 duplication syndrome-associated psychosis and mania: a new case and review of the literature
Maternal 15q11.2-q13.1 duplication syndrome-associated psychosis and mania: a new case and review of the literature
Maternal 15q11.2-q13.1 duplication syndrome is associated with a variety of developmental and neurop
A rare case report of Huntington’s disease with severe psychiatric symptoms as initial manifestations
A rare case report of Huntington’s disease with severe psychiatric symptoms as initial manifestations
Introduction Huntington’s disease (HD) stands as an inherited and progressive neurodegenerative a
Causal association of attention-deficit/hyperactivity disorder and autism spectrum disorder with post-traumatic stress disorder
Causal association of attention-deficit/hyperactivity disorder and autism spectrum disorder with post-traumatic stress disorder
Background Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are
22q13.33 duplication involving SHANK3 gene: a boy and his mother with “persistent” language and speech sound disorder
22q13.33 duplication involving SHANK3 gene: a boy and his mother with “persistent” language and speech sound disorder
Patients carrying 22q13.33 duplication present variable neurodevelopmental phenotype. Among these, p
UK Biobank subjects carrying protein truncating variants in HERC1 are not at substantially increased risk of minor psychiatric disorders
UK Biobank subjects carrying protein truncating variants in HERC1 are not at substantially increased risk of minor psychiatric disorders
UCL Genetics Institute, University College London, London, UK Received 13 September 2023 Accepted 18 October ...
Discriminative features in White-Sutton syndrome: literature review and first report in Iran
Discriminative features in White-Sutton syndrome: literature review and first report in Iran
White-Sutton Syndrome is one of the rare neurodevelopmental disorder inherited in an autosomal domin
Familial KCNQ2 mutation: a psychiatric perspective
Familial KCNQ2 mutation: a psychiatric perspective
KCNQ2 mutations are a common cause of early-onset epileptic syndromes. They are associated with hete
Chromatin gatekeeper and modifier CHD proteins in development, and in autism and other neurological disorders
Chromatin gatekeeper and modifier CHD proteins in development, and in autism and other neurological disorders
Chromatin, a protein–DNA complex, is a dynamic structure that stores genetic information within the
Two novel variants of the STXBP1 and CHRNB2 genes identified in a Chinese boy with refractory seizures and developmental delay
Two novel variants of the STXBP1 and CHRNB2 genes identified in a Chinese boy with refractory seizures and developmental delay
Autosomal dominant sleep-related hypermotor epilepsy is a rare disease caused by pathogenic variants
A novel risk variant block across introns 36–45 of CACNA1C for schizophrenia: a cohort-wise replication and cerebral region-wide validation study
A novel risk variant block across introns 36–45 of CACNA1C for schizophrenia: a cohort-wise replication and cerebral region-wide validation study
Objectives Numerous genome-wide association studies have identified CACNA1C as one of the top ris
Case of twin achondroplasia and autism coexistence and literature review
Case of twin achondroplasia and autism coexistence and literature review
Achondroplasia and autism spectrum disorder (ASD) are two genetically based disorders. The coexisten
Genome-wide association study of antisocial personality disorder diagnostic criteria provides evidence for shared risk factors across disorders
Genome-wide association study of antisocial personality disorder diagnostic criteria provides evidence for shared risk factors across disorders
Introduction While progress has been made in determining the genetic basis of antisocial behaviou
Chromosomal rearrangement in the 22q11.2 region: a critical locus for sociability and attentional skills
Chromosomal rearrangement in the 22q11.2 region: a critical locus for sociability and attentional skills
Rearrangements of 22q11.2 region, most often deletions and duplications, are responsible for multipl
‘A child with Malpuech–Michels–Mingarelli–Carnevale syndrome and ADHD and major depressive disorder’
‘A child with Malpuech–Michels–Mingarelli–Carnevale syndrome and ADHD and major depressive disorder’
Malpuech–Michels–Mingarelli–Carnevale (3MC) syndrome, is a rare genetic condition resulting from the
The therapygenetics of anxiety disorders
The therapygenetics of anxiety disorders
Treatment of anxiety disorders primarily includes pharmacological treatment and psychotherapy, yet a
Depression and sarcopenia: a Mendelian randomization analysis
Depression and sarcopenia: a Mendelian randomization analysis
Background The association between depression and sarcopenia has been reported in observational s
Schizophrenia polygenic risk score and type 2 diabetes onset in older adults with no schizophrenia diagnosis
Schizophrenia polygenic risk score and type 2 diabetes onset in older adults with no schizophrenia diagnosis
Objectives An association between type 2 diabetes (T2DM) and schizophrenia has long been observed
Analysis of convergence of linkage and association studies in autism spectrum disorders
Analysis of convergence of linkage and association studies in autism spectrum disorders
Autism spectrum disorder (ASD) is a clinically and genetically heterogeneous group of pervasive neur
White matter volume and myelin oligodendrocyte glycoprotein (MOG) microsatellites in pediatric obsessive-compulsive disorder
White matter volume and myelin oligodendrocyte glycoprotein (MOG) microsatellites in pediatric obsessive-compulsive disorder
The myelin oligodendrocyte glycoprotein (MOG) gene plays an important role in myelination and has be
Integrated multi-omics analysis identifies epigenetic alteration related to neurodegeneration development in post-traumatic stress disorder patients
Integrated multi-omics analysis identifies epigenetic alteration related to neurodegeneration development in post-traumatic stress disorder patients
Introduction Post-traumatic stress disorder (PTSD), is associated with an elevated risk of neurod
Genome-wide by environment interaction studies of maternal smoking and educational score in UK biobank
Genome-wide by environment interaction studies of maternal smoking and educational score in UK biobank
Purpose This study aimed to investigate the associations between maternal smoking (MS) and educat
Genome-wide association studies-supported rs12966547 variant of the long noncoding RNA LOC105372125 is significantly associated with susceptibility to schizophrenia and bipolar disorder in Han Chinese women
Genome-wide association studies-supported rs12966547 variant of the long noncoding RNA LOC105372125 is significantly associated with susceptibility to schizophrenia and bipolar disorder in Han Chinese women
Objective Genome-wide association studies have found that rs12966547 polymorphism was associated
Differential effect of panic on the DNA methylation of the glucocorticoid receptor gene exon 1F in chronic subjective tinnitus with distress
Differential effect of panic on the DNA methylation of the glucocorticoid receptor gene exon 1F in chronic subjective tinnitus with distress
Objective Tinnitus can be regarded as a chronic stressor, leading to dysregulation of the hypotha
Evaluating the genetic interaction effects of gut microbiome and diet on the risk of neuroticism in the UK Biobank cohort
Evaluating the genetic interaction effects of gut microbiome and diet on the risk of neuroticism in the UK Biobank cohort
Objectives In this study designed to investigate the effect of diet and gut microbiome on neurops
Gene and schizophrenia in the pregenome and postgenome-wide association studies era: a bibliometric analysis and network visualization
Gene and schizophrenia in the pregenome and postgenome-wide association studies era: a bibliometric analysis and network visualization
This study aimed to perform a bibliometric analysis on genetic studies in schizophrenia in the prege
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