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。International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions
Nicola Specchio et al.
EPILEPSIA (2022)
Diagnostic Usefulness of MLPA Techniques for Recurrent Copy Number Variants Detection in Global Developmental Delay/Intellectual Disability
Diana Miclea et al.
INTERNATIONAL JOURNAL OF GENERAL MEDICINE (2021)
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)
A 14q31.1-q32.11 deletion case: Genotype - Neurological Phenotype Correlations in 14q interstitial deletion syndrome
Eugenia Roza et al.
ROMANIAN BIOTECHNOLOGICAL LETTERS (2020)
The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay
Marketa Wayhelova et al.
BMC MEDICAL GENOMICS (2019)
Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability
Diana Miclea et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2019)
Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil
Tiago Fernando Chaves et al.
SCIENTIFIC REPORTS (2019)
European guidelines for constitutional cytogenomic analysis
Marisa Silva et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2019)
Chromosomal microarray analysis of Bulgarian patients with epilepsy and intellectual disability
Valentina Peycheva et al.
GENE (2018)
Evaluation of the child with global developmental delay and intellectual disability
Stacey A. Belanger et al.
PAEDIATRICS & CHILD HEALTH (2018)
CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study
Mary Garcia-Acero et al.
MOLECULAR CYTOGENETICS (2018)
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders
Kate Wolfe et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield
S. Anazi et al.
MOLECULAR PSYCHIATRY (2017)
Copy number variation analysis of patients with intellectual disability from North-West Spain
Ines Quintela et al.
GENE (2017)
Epigenetic Etiology of Intellectual Disability
Shigeki Iwase et al.
JOURNAL OF NEUROSCIENCE (2017)
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
Solveig Heide et al.
JOURNAL OF PEDIATRICS (2017)
Familial transmission of recurrent 15q11.2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 associated with phenotypic variability in developmental, speech, and motor delay
Chih-Ping Chen et al.
TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY (2017)
Dosage sensitivity is a major determinant of human copy number variant pathogenicity
Alan M. Rice et al.
NATURE COMMUNICATIONS (2017)
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes
E. Di Gregorio et al.
CLINICAL GENETICS (2017)
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability
Ivona Sansovic et al.
CROATIAN MEDICAL JOURNAL (2017)
Chromosome microarray analysis in the investigation of children with congenital heart disease
Xiao-li Wu et al.
BMC PEDIATRICS (2017)
Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability
Rolph Pfundt et al.
GENETICS IN MEDICINE (2016)
Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations
J. J. O'Byrne et al.
IRISH JOURNAL OF MEDICAL SCIENCE (2016)
Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions
A. Mesut Erzurumluoglu et al.
ANNALS OF HUMAN GENETICS (2016)
Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies
Guillermo Lay-Son et al.
JORNAL DE PEDIATRIA (2015)
Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients
Isabel Marques Carreira et al.
MOLECULAR CYTOGENETICS (2015)
Array-CGH in children with mild intellectual disability: a population-based study
Charles Coutton et al.
EUROPEAN JOURNAL OF PEDIATRICS (2015)
Changing Interpretation of Chromosomal Microarray Over Time in a Community Cohort With Intellectual Disability
Emma Palmer et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay
George Kirov et al.
BIOLOGICAL PSYCHIATRY (2014)
Phenotype profiling of patients with intellectual disability and copy number variations
Monica Rosello et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2014)
Array CGH analysis of a cohort of Russian patients with intellectual disability
Anna A. Kashevarova et al.
GENE (2014)
Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability
Magdalena Bartnik et al.
JOURNAL OF APPLIED GENETICS (2014)
Considering specific clinical features as evidence of pathogenic copy number variants
Egle Preiksaitiene et al.
JOURNAL OF APPLIED GENETICS (2014)
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Bradley P. Coe et al.
NATURE GENETICS (2014)
Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays
John B. Moeschler et al.
PEDIATRICS (2014)
Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?
M. Shoukier et al.
CLINICAL GENETICS (2013)
Pathogenic or not? Assessing the clinical relevance of copy number variants
J. Y. Hehir-Kwa et al.
CLINICAL GENETICS (2013)
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)
Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?
Weimin Bi et al.
GENETICS IN MEDICINE (2013)
Estimates of penetrance for recurrent pathogenic copy-number variations
Jill A. Rosenfeld et al.
GENETICS IN MEDICINE (2013)
Clinical Significance of De Novo and Inherited Copy-Number Variation
Anneke T. Vulto-van Silfhout et al.
HUMAN MUTATION (2013)
Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) associated with abnormal maternal serum biochemistry
Chih-Ping Chen et al.
TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY (2013)
Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years' clinical application for over 8,700 patients
Joo Wook Ahn et al.
MOLECULAR CYTOGENETICS (2013)
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
Dheeraj Malhotra et al.
CELL (2012)
Diagnostic Interpretation of Array Data Using Public Databases and Internet Sources
Nicole de Leeuw et al.
HUMAN MUTATION (2012)
Updates in the Genetic Evaluation of the Child with Global Developmental Delay or Intellectual Disability
Leigh Anne Flore et al.
SEMINARS IN PEDIATRIC NEUROLOGY (2012)
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
Hutton M. Kearney et al.
GENETICS IN MEDICINE (2011)
De novo copy number variants associated with intellectual disability have a paternal origin and age bias
Jayne Y. Hehir-Kwa et al.
JOURNAL OF MEDICAL 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)
Challenges in Clinical Interpretation of Microduplications Detected by Array CGH Analysis
Pawel Stankiewicz et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Updated National Birth Prevalence Estimates for Selected Birth Defects in the United States, 2004-2006
Samantha E. Parker et al.
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY (2010)
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
Melanie Manning et al.
GENETICS IN MEDICINE (2010)
The genetic basis of non-syndromic intellectual disability: a review
Liana Kaufman et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2010)
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Santhosh Girirajan et al.
NATURE GENETICS (2010)
Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA
Bradford Coffee et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands
Ron Hochstenbach et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2009)
分享论文
