Two Genetic Mechanisms in Two Siblings with Intellectual Disability, Autism Spectrum Disorder, and Psychosis

Article Oncology

Unusual phenotypes in patients with a pathogenic germline variant in DICER1

Kateryna Venger et al.

Summary: Pathogenic DICER1 variants may be associated with a broader phenotypic spectrum than initially assumed, including skeletal findings, facial dysmorphism, and developmental abnormalities.

FAMILIAL CANCER (2023)

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Article Genetics & Heredity

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1

Emeli Ponten et al.

Summary: This study identified a heterozygous p.S1344L mutation in the RNase IIIa domain of DICER1, which overlaps with the phenotype of GLOW syndrome. The findings suggest that this mutation may impede miRNA-5p biogenesis. The study also highlights the severe form of DICER1 syndrome associated with the p.S1344L mutation.

JOURNAL OF MEDICAL GENETICS (2022)

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Article Biochemistry & Molecular Biology

Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium

Tess Levy et al.

Summary: This study investigated genotype-phenotype associations in individuals with Phelan-McDermid syndrome (PMS). The results showed that individuals with Class I deletions or sequence variants had fewer delayed developmental milestones and higher cognitive ability, but more skill regressions. Individuals with Class II deletions were more likely to have various medical features. Those with Class I deletions or sequence variants were more likely to have psychiatric diagnoses. Autism spectrum disorder diagnoses did not differ between groups.

HUMAN MOLECULAR GENETICS (2022)

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Article Biochemistry & Molecular Biology

The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders

Anna Alkelai et al.

Summary: This study explored the potential benefits of whole genome sequencing in schizophrenia and related psychotic disorders, identifying clinically significant variants and increased risk scores in affected individuals. Rare variants were enriched in specific gene sets, and genetic differences were observed in the PRS for schizophrenia between affected individuals and their relatives. Pharmacogenomics information was also provided based on CYP2D6 genotype data for participants.

MOLECULAR PSYCHIATRY (2022)

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Review Behavioral Sciences

Global prevalence of autism: A systematic review update

Jinan Zeidan et al.

Summary: This article reviews the prevalence of autism worldwide, considering the impact of geographic, ethnic, and socioeconomic factors on prevalence estimates. Approximately 1/100 children are diagnosed with autism spectrum disorder around the world. Prevalence estimates increased over time and varied greatly within and across sociodemographic groups. These findings reflect changes in the definition of autism and differences in the methodology and contexts of prevalence studies.

AUTISM RESEARCH (2022)

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Review Behavioral Sciences

Occurrence of psychosis and bipolar disorder in adults with autism: A systematic review and meta-analysis

Kandice J. Varcin et al.

Summary: Evidence suggests that adults with autism spectrum disorder have higher rates of co-occurring psychosis and bipolar disorder. Males with autism have an increased risk of psychosis, while females have a higher risk of bipolar disorder. Ongoing assessment and monitoring of these disorders in adults with autism is necessary.

NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2022)

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Review Genetics & Heredity

Rare variants and the oligogenic architecture of autism

Tianyun Wang et al.

Summary: This study provides evidence supporting an oligogenic model in which two or more ultrarare mutations with modest effects are preferentially transmitted to children with autism. These private gene-disruptive mutations are enriched in families with multiple affected individuals, emerged two or three generations ago, and map to genes not previously associated with autism. Although no single gene has reached statistical significance, this class of variation should be considered along with genetic and nongenetic factors to better explain the etiology of this complex trait.

TRENDS IN GENETICS (2022)

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Article Biochemistry & Molecular Biology

The Epigenetics of Psychosis: A Structured Review with Representative Loci

Christine L. Miller

Summary: The evidence supports the presence of environmental factors in chronic psychotic disorders, and research on the epigenetic manifestations of these factors has begun. This review focuses on three genes, MCHR1, AKT1, and TDO2, as models for differential methylation, and explores the environmental factors associated with psychotic disorders and their interaction with these genes. The location of transcription factor motifs relative to key methylation sites is evaluated and evidence is presented for methylation directing alternative splicing. Experimental results from key studies show differential methylation patterns in psychosis cases versus controls, the influence of pre-existing methylation patterns on brain activation following acute administration of psychosis-eliciting environmental stimuli, and a pattern of methylation associated with developmental risk factors for psychosis.

BIOMEDICINES (2022)

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Article Medicine, General & Internal

Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan

Chung-Lin Lee et al.

Summary: This study aimed to determine the diagnostic yield of array-CGH in ASD patients from a Taiwanese cohort. The results showed a satisfactory diagnostic yield of array-CGH in Taiwanese ASD patients, supporting its clinical usefulness as a first-line testing method for ASD.

MEDICINA-LITHUANIA (2022)

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Review Biotechnology & Applied Microbiology

Intellectual disability genomics: current state, pitfalls and future challenges

Nuno Maia et al.

Summary: Intellectual disability (ID) can be caused by both non-genetic and genetic factors, with genetic factors contributing to over 1700 ID-related disorders. The complexity and heterogeneity of ID phenotypes and genetics, along with challenges in establishing inheritance patterns, often lead to diagnostic delays. Massive parallel sequencing has shown promise in overcoming these challenges, and international collaborations are crucial for keeping up with advancements in ID gene discovery through multidisciplinary contributions.

BMC GENOMICS (2021)

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Review Biochemistry & Molecular Biology

Beyond HAT Adaptor: TRRAP Liaisons with Sp1-Mediated Transcription

Bo-Kun Yin et al.

Summary: Members of the PIKK family, including TRRAP, are crucial in various biological processes such as DNA damage response and transcription. TRRAP, despite lacking enzymatic activity, acts as an adapter protein and scaffold protein in regulating cell functions and gene transcription, particularly in neural homeostasis.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Article Biochemistry & Molecular Biology

Involvement of Rare Mutations of SCN9A, DPP4, ABCA13, and SYT14 in Schizophrenia and Bipolar Disorder

Chia-Hsiang Chen et al.

Summary: Rare mutations associated with schizophrenia and bipolar disorder were identified in two multiplex families, highlighting their importance in molecular diagnosis and genetic counseling. The study suggests a potential link between SCN9A mutations and the clinical phenotypes of SZ and BD, supporting the oligogenic involvement and multiple-hit model in these disorders.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Review Pathology

DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma

Ivan A. Gonzalez et al.

Summary: DICER1 syndrome is a rare familial tumor predisposition disorder characterized by a heterozygous DICER1 germline mutation. It primarily presents as pleuropulmonary blastoma, with potential for other cystic neoplasms, all sharing specific clinical and histopathologic features.

MODERN PATHOLOGY (2021)

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Article Biology

HAT cofactor TRRAP modulates microtubule dynamics via SP1 signaling to prevent neurodegeneration

Alicia Tapias et al.

Summary: The study reveals the importance of TRRAP for neuroprotection and the network connecting TRRAP, HAT, and SP1 in regulating microtubule dynamics.

ELIFE (2021)

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Review Genetics & Heredity

Genotype-phenotype correlation in Phelan-McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes

Arianna Ricciardello et al.

Summary: Phelan-McDermid syndrome is a rare genetic disorder characterized by intellectual disability, motor impairment, and autism spectrum disorder. This review aims to understand genotype-phenotype correlations in PMS patients and provide clinicians with a conceptual framework for evidence-based genetic work-ups, clinical assessments, and therapeutic interventions.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)

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Article Health Care Sciences & Services

Identification of a Rare Novel KMT2C Mutation That Presents with Schizophrenia in a Multiplex Family

Chia-Hsiang Chen et al.

Summary: Schizophrenia is a complex genetic disorder involving many common variants with modest effects and rare mutations with high penetrance. Identifying rare mutations associated with schizophrenia can help establish molecular diagnosis, elucidate pathogenesis, and provide genetic counseling.

JOURNAL OF PERSONALIZED MEDICINE (2021)

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Review Psychiatry

Empirically supported psychological treatments: The challenges of comorbid psychiatric and behavioral disorders in people with intellectual disability

Laura E. Gomez et al.

Summary: This paper reviews the current state of knowledge on psychological interventions for treating psychiatric and behavioral disorders in individuals with intellectual disabilities. It recommends the application of three generations of therapies in professional practice.

WORLD JOURNAL OF PSYCHIATRY (2021)

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Article Genetics & Heredity

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum

Ulrike Hueffmeier et al.

Summary: The study identified an EIF3F variant associated with neurodevelopmental disorder, characterized by intellectual disability, epilepsy, and other symptoms. Patients showed developmental delays, behavioral problems, hearing loss, and short stature, with some also exhibiting microcephaly and reduced sensitivity to pain. A compound heterozygous individual had severe symptoms, suggesting genotype-phenotype correlation.

ORPHANET JOURNAL OF RARE DISEASES (2021)

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Article Genetics & Heredity

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test

Ana Arteche-Lopez et al.

Summary: The study compared the clinical utility of CMA, FMR1 testing, and/or WES in 343 ASD patients, finding a higher diagnostic power of WES compared to CMA in the study of ASD. The results support the implementation of WES as a first-tier test for the genetic diagnosis of ASD.

GENES (2021)

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Article Genetics & Heredity

Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders

Francisco Martinez-Granero et al.

Summary: Most consensus recommendations for the genetic diagnosis of neurodevelopmental disorders (NDDs) do not include the use of next generation sequencing (NGS) and are still based on chromosomal microarrays, such as comparative genomic hybridization array (aCGH). This study compares the diagnostic yield obtained by aCGH and clinical exome sequencing in NDD globally and its spectrum of disorders. Clinical exome sequencing showed superior diagnostic yield compared to aCGH in most cases, suggesting that NGS could be used as a first-tier test in the diagnostic algorithm of all NDDs.

NPJ GENOMIC MEDICINE (2021)

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Article Clinical Neurology

Characterisation of the clinical phenotype in Phelan-McDermid syndrome

Monica Burdeus-Olavarrieta et al.

Summary: This study provides a comprehensive description of the behavioral profile in Phelan-McDermid syndrome (PMS) and highlights the wide variability of symptom severity, with associations to deletion size. It emphasizes the need for suitable psychotherapeutic and pharmacological approaches, longitudinal studies, and more precise genomic analysis in managing PMS.

JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2021)

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Article Clinical Neurology

The Neurological Manifestations of Phelan-McDermid Syndrome

Yitzchak Frank

Summary: Phelan-McDermid syndrome (PMS) is a genetic disorder caused by haploinsufficiency of the SHANK3 gene. It is characterized by neurobehavioral symptoms and signs including intellectual disability, speech and language impairment, and autism spectrum disorder. Advances in understanding the pathophysiology and generation of animal models have raised opportunities for a biological cure for PMS.

PEDIATRIC NEUROLOGY (2021)

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Article Biochemistry & Molecular Biology

Identification of a novel nonsense homozygous mutation of LINS1 gene in two sisters with intellectual disability, schizophrenia, and anxiety

Chia-Hsiang Chen et al.

Summary: This study reported a case of two sisters with moderate intellectual disability, schizophrenia, and anxiety. A novel homozygous nonsense mutation in LINS1 was identified in these sisters, transmitted from their heterozygous carrier parents. This is the first case of LINS1-associated neurodevelopmental disorder in Taiwan, suggesting a broader clinical spectrum beyond intellectual disability for LINS1 mutations.

BIOMEDICAL JOURNAL (2021)

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Review Psychology, Developmental

Genetic Advances in Autism

Anita Thapar et al.

Summary: Autism is highly heritable, with rare variants of large effect size and common gene variants of small effect all contributing to its risk. Recent research challenges traditional diagnostic boundaries and highlights the vast heterogeneity of autism.

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2021)

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Article Genetics & Heredity

Nonrandom occurrence of multiple de novo coding variants in a proband indicates the existence of an oligogenic model in autism

Yaoqiang Du et al.

GENETICS IN MEDICINE (2020)

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Article Behavioral Sciences

Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort

Eduarda Morgana da Silva Montenegro et al.

AUTISM RESEARCH (2020)

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Article Genetics & Heredity

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Erin Rooney Riggs et al.

GENETICS IN MEDICINE (2020)

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Article Biochemistry & Molecular Biology

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

F. Kyle Satterstrom et al.

CELL (2020)

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Article Neurosciences

Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations

Daniel P. Howrigan et al.

NATURE NEUROSCIENCE (2020)

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Article Psychiatry

Multiple rare inherited variants in a four generation schizophrenia family offer leads for complex mode of disease inheritance

Jibin John et al.

SCHIZOPHRENIA RESEARCH (2020)

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Review Psychiatry

Toward Actionable Practice Parameters for Dual Diagnosis: Principles of Assessment and Management for Co-Occurring Psychiatric and Intellectual/Developmental Disability

John N. Constantino et al.

CURRENT PSYCHIATRY REPORTS (2020)

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Review Genetics & Heredity

Recent Advances in Understanding the Genetic Architecture of Autism

Caroline M. Dias et al.

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 21, 2020 (2020)

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Article Cell Biology

KLHL17/Actinfilin, a brain-specific gene associated with infantile spasms and autism, regulates dendritic spine enlargement

Hsiao-Tang Hu et al.

JOURNAL OF BIOMEDICAL SCIENCE (2020)

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Review Pediatrics

A clinical primer on intellectual disability

Dilip R. Patel et al.

TRANSLATIONAL PEDIATRICS (2020)

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Article

Chromosomal Aberrations in Pediatric Patients with Developmental Delay/Intellectual Disability: A Single-Center Clinical Investigation

Ting Hu et al.

Biomed Research International (2019)

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Letter Psychiatry

Rare variant based evidence for oligogenic contribution of neurodevelopmental pathway genes to schizophrenia

Jibin John et al.

SCHIZOPHRENIA RESEARCH (2019)

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Article Genetics & Heredity

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Benjamin Cogne et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

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Article Medical Laboratory Technology

Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea

Woori Jang et al.

ANNALS OF LABORATORY MEDICINE (2019)

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Article Genetics & Heredity

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

Silvia De Rubeis et al.

MOLECULAR AUTISM (2018)

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Review Oncology

DICER1 Syndrome: DICER1 Mutations in Rare Cancers

Jake C. Robertson et al.

CANCERS (2018)

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Article Genetics & Heredity

De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report

Chrystal F. Mavros et al.

BMC MEDICAL GENETICS (2018)

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Article Multidisciplinary Sciences

Quantifying the contribution of recessive coding variation to developmental disorders

Hilary C. Martin et al.

SCIENCE (2018)

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Article Genetics & Heredity

Macrocephaly associated with the DICER1 syndrome

Nicholas E. Khan et al.

GENETICS IN MEDICINE (2017)

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Article Genetics & Heredity

Neurogenetic analysis of childhood disintegrative disorder

Abha R. Gupta et al.

MOLECULAR AUTISM (2017)

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Article Multidisciplinary Sciences

High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan

Chia-Hsiang Chen et al.

SCIENTIFIC REPORTS (2017)

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Review Biochemistry & Molecular Biology

Molecular mechanisms of Dicer: endonuclease and enzymatic activity

Min-Sun Song et al.

BIOCHEMICAL JOURNAL (2017)

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Article Behavioral Sciences

Deletion of TDO2, IDO-1 and IDO-2 differentially affects mouse behavior and cognitive function

Lay Khoon Too et al.

BEHAVIOURAL BRAIN RESEARCH (2016)

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Review Biochemistry & Molecular Biology

Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes

C. F. Rocha et al.

GENETICS AND MOLECULAR RESEARCH (2016)

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Article Biochemistry & Molecular Biology

Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations

M. Kataoka et al.

MOLECULAR PSYCHIATRY (2016)

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Article Clinical Neurology

Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment

Hala Harony-Nicolas et al.

JOURNAL OF CHILD NEUROLOGY (2015)

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Article Multidisciplinary Sciences

Increased co-expression of genes harboring the damaging de novo mutations in Chinese schizophrenic patients during prenatal development

Qiang Wang et al.

SCIENTIFIC REPORTS (2015)

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Review Clinical Neurology

Whole genome/exome sequencing in mood and psychotic disorders

Tadafumi Kato

PSYCHIATRY AND CLINICAL NEUROSCIENCES (2015)

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Article Genetics & Heredity

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome

Sara M. Sarasua et al.

GENETICS IN MEDICINE (2014)

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Article Genetics & Heredity

Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome

Steven Klein et al.

JOURNAL OF MEDICAL GENETICS (2014)

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Review Genetics & Heredity

Next-generation sequencing technologies: breaking the sound barrier of human genetics

El Mustapha Bahassi et al.

MUTAGENESIS (2014)

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Article Genetics & Heredity

Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci

B. Chiliana et al.

CLINICAL GENETICS (2013)

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Article Clinical Neurology

Confirmation of chromosomal microarray as a firsttier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.

Agatino Battaglia et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2013)

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Article Biochemistry & Molecular Biology

Evaluation of Six SNPs of MicroRNA Machinery Genes and Risk of Schizophrenia

Yi Zhou et al.

JOURNAL OF MOLECULAR NEUROSCIENCE (2013)

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Review Genetics & Heredity

Update on the Kelch-like (KLHL) gene family

Bajinder S. Dhanoa et al.

HUMAN GENOMICS (2013)

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Review Neurosciences

Cadherins and neuropsychiatric disorders

Christoph Redies et al.

BRAIN RESEARCH (2012)

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Article Genetics & Heredity

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia

Bin Xu et al.

NATURE GENETICS (2012)

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Editorial Material Neurosciences

The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders

Joseph D. Buxbaum et al.

NEURON (2012)

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Article Neurosciences

Upregulation of Dicer and MicroRNA Expression in the Dorsolateral Prefrontal Cortex Brodmann Area 46 in Schizophrenia

Danielle M. Santarelli et al.

BIOLOGICAL PSYCHIATRY (2011)

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Article Biochemistry & Molecular Biology

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

Alex R. Paciorkowski et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2011)

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Review Education, Special

Prevalence of intellectual disability: A meta-analysis of population-based studies

Pallab K. Maulik et al.

RESEARCH IN DEVELOPMENTAL DISABILITIES (2011)

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Article Genetics & Heredity

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

David T. Miller et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2010)

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Article Genetics & Heredity

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

Melanie Manning et al.

GENETICS IN MEDICINE (2010)

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Article Neurosciences

Behavioral and Cerebellar Transmission Deficits in Mice Lacking the Autism-Linked Gene Islet Brain-2

Joanna Giza et al.

JOURNAL OF NEUROSCIENCE (2010)

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Article Biochemistry & Molecular Biology

Schizophrenia is associated with an increase in cortical microRNA biogenesis

N. J. Beveridge et al.

MOLECULAR PSYCHIATRY (2010)

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Review Genetics & Heredity

APPLICATIONS OF NEXT-GENERATION SEQUENCING Sequencing technologies - the next generation

Michael L. Metzker

NATURE REVIEWS GENETICS (2010)

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Article Neurosciences

Tryptophan 2,3-dioxygenase is a key modulator of physiological neurogenesis and anxiety-related behavior in mice

Masaaki Kanai et al.

MOLECULAR BRAIN (2009)

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Article Genetics & Heredity

Alterations in CDH15 and KIRREL3 in Patients with Mild to Severe Intellectual Disability

Kavita Bhalla et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

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Article Neurosciences

Conditional loss of Dicer disrupts cellular and tissue morphogenesis in the cortex and hippocampus

Tigwa H. Davis et al.

JOURNAL OF NEUROSCIENCE (2008)

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Article Genetics & Heredity

Monosomy 1p36 deletion syndrome

Marzena Gajecka et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2007)

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Review Biochemistry & Molecular Biology

Orchestration of chromatin-based processes:: mind the TRRAP

R. Murr et al.

ONCOGENE (2007)

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Article Neurosciences

Upregulation of the initiating step of the kynurenine pathway in postmortem anterior cingulate cortex from individuals with schizophrenia and bipolar disorder

CL Miller et al.

BRAIN RESEARCH (2006)

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Article Neurosciences

Expression of the kynurenine pathway enzyme tryptophan 2,3-dioxygenase is increased in the frontal cortex of individuals with schizophrenia

CL Miller et al.

NEUROBIOLOGY OF DISEASE (2004)

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Article Genetics & Heredity

Association of tryptophan 2,3 dioxygenase gene polymorphism with autism

R Nabi et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2004)

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Article Genetics & Heredity

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

HL Wilson et al.

JOURNAL OF MEDICAL GENETICS (2003)

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Article Genetics & Heredity

Mutation screening and transmission disequilibrium study of ATP10C in autism

SJ Kim et al.

AMERICAN JOURNAL OF MEDICAL GENETICS (2002)

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Article Genetics & Heredity

Disruption of Trrap causes early embryonic lethality and defects in cell cycle progression

Z Herceg et al.

NATURE GENETICS (2001)

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Article Genetics & Heredity

The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression

LBK Herzing et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2001)

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Article Multidisciplinary Sciences

Role for a bidentate ribonuclease in the initiation step of RNA interference

E Bernstein et al.

NATURE (2001)

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Two Genetic Mechanisms in Two Siblings with Intellectual Disability, Autism Spectrum Disorder, and Psychosis

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