相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。A 343 Italian cohort of patients analysed with array-comparative genomic hybridization: unsolved problems and genetic counselling difficulties
C. Palka Bayard de Volo et al.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH (2021)
Lack of MECP2 gene transcription on the duplicated alleles of two related asymptomatic females with Xq28 duplications and opposite X-chromosome inactivation skewing
Yixi Sun et al.
HUMAN MUTATION (2021)
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
F. Kyle Satterstrom et al.
CELL (2020)
Identification of amygdala-expressed genes associated with autism spectrum disorder
Maria Jesus Herrero et al.
MOLECULAR AUTISM (2020)
An Overview of the Main Genetic, Epigenetic and Environmental Factors Involved in Autism Spectrum Disorder Focusing on Synaptic Activity
Elena Masini et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Identification of Copy Number Variation by Array-CGH in Portuguese Children and Adolescents Diagnosed with Autism Spectrum Disorders
S. Monteiro et al.
NEUROPEDIATRICS (2019)
Array-CGH increased the diagnostic rate of developmental delay or intellectual disability in Taiwan
Chung-Lin Lee et al.
PEDIATRICS AND NEONATOLOGY (2019)
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders
Eleonora Napoli et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2018)
Clinical relevance of small copy-number variants in chromosomal microarray clinical testing
Dana Hollenbeck et al.
GENETICS IN MEDICINE (2017)
New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants
Gerarda Cappuccio et al.
ITALIAN JOURNAL OF PEDIATRICS (2016)
Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong
Wai-Kwan Siu et al.
CLINICAL AND TRANSLATIONAL MEDICINE (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder
Kristiina Tammimies et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2015)
A copy number variation map of the human genome
Mehdi Zarrei et al.
NATURE REVIEWS GENETICS (2015)
Sip1 Downstream Effector ninein Controls Neocortical Axonal Growth, Ipsilateral Branching, and Microtubule Growth and Stability
Swathi Srivatsa et al.
NEURON (2015)
A CGH array study in nonsyndromic (primary) autism patients: deletions on 16p13.11, 16p11.2, 1q21.1, 2q21.1q21.2, and 8p23.1
Kudret Esen Gumuslu et al.
TURKISH JOURNAL OF MEDICAL SCIENCES (2015)
Genotype to phenotype relationships in autism spectrum disorders
Jonathan Chang et al.
NATURE NEUROSCIENCE (2015)
Development of Cortical Interneurons
Jianhua Chu et al.
NEUROPSYCHOPHARMACOLOGY (2015)
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
Dalila Pinto et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Chromosomal microarray impacts clinical management
E. R. Riggs et al.
CLINICAL GENETICS (2014)
The multifaceted roles of Slits and Robos in cortical circuits: from proliferation to axon guidance and neurological diseases
Heike Blockus et al.
CURRENT OPINION IN NEUROBIOLOGY (2014)
Establishing a reference group for distal 18q-: clinical description and molecular basis
Jannine D. Cody et al.
HUMAN GENETICS (2014)
Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder
Santhosh Girirajan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders
Barbara Wisniowiecka-Kowalnik et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature
Dorothee C. van Trier et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2013)
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions (vol 15, pg 399, 2013)
G. Bradley Schaefer et al.
GENETICS IN MEDICINE (2013)
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts
D. Moreno-De-Luca et al.
MOLECULAR PSYCHIATRY (2013)
Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease
Areti Syrmou et al.
PEDIATRIC RESEARCH (2013)
Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH
Ludmila Kousoulidou et al.
BIOMED RESEARCH INTERNATIONAL (2013)
Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
Simone Sanna-Cherchi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders
Magdalena Bartnik et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2012)
Global Prevalence of Autism and Other Pervasive Developmental Disorders
Mayada Elsabbagh et al.
AUTISM RESEARCH (2012)
Infant Neural Sensitivity to Dynamic Eye Gaze Is Associated with Later Emerging Autism
Mayada Elsabbagh et al.
CURRENT BIOLOGY (2012)
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis
Lluis Armengol et al.
HUMAN GENETICS (2012)
Novel Microcephalic Primordial Dwarfism Disorder Associated with Variants in the Centrosomal Protein Ninein
Andrew Dauber et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)
Interneuron dysfunction in psychiatric disorders
Oscar Marin
NATURE REVIEWS NEUROSCIENCE (2012)
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
Santhosh Girirajan et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay
Rachel D. Burnside et al.
HUMAN GENETICS (2011)
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)
Genetic determinants of autism in individuals with deletions of 18q
Louise O'Donnell et al.
HUMAN GENETICS (2010)
Functional impact of global rare copy number variation in autism spectrum disorders
Dalila Pinto et al.
NATURE (2010)
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Santhosh Girirajan et al.
NATURE GENETICS (2010)
Clinical Genetic Testing for Patients With Autism Spectrum Disorders
Yiping Shen et al.
PEDIATRICS (2010)
High Resolution Genomic Analysis of 18q-Using Oligo-Microarray Comparative Genomic Hybridization (aCGH)
Patricia L. Heard et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances
Marianne Doornbos et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2009)
Asymmetric centrosome inheritance maintains neural progenitors in the neocortex
Xiaoqun Wang et al.
NATURE (2009)
Syndromic autism: causes and pathogenetic pathways
Arianna Benvenuto et al.
WORLD JOURNAL OF PEDIATRICS (2009)
Structural variation of chromosomes in autism spectrum disorder
Christian R. Marshall et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Strong association of de novo copy number mutations with autism
Jonathan Sebat et al.
SCIENCE (2007)
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
Anita Rauch et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Subtelomere FISH analysis of 11 688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
J. B. Ravnan et al.
JOURNAL OF MEDICAL GENETICS (2006)
Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: A specific cardiac phenotype associated with deletion 18q syndrome
P Versacci et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Practice parameter: Evaluation of the child with global developmental delay - Report of the quality standards subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society
M Shevell et al.
NEUROLOGY (2003)