| Item Type | Name |
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Academic Article
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The array CGH and its clinical applications.
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Academic Article
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Application of metaphase HR-CGH and targeted Chromosomal Microarray Analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features.
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Academic Article
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
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Academic Article
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22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
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Academic Article
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Phenotypic manifestations of copy number variation in chromosome 16p13.11.
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Academic Article
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Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
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Academic Article
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Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
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Academic Article
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Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.
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Academic Article
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Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.
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Academic Article
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Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.
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Academic Article
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15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization.
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Academic Article
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De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23).
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Academic Article
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PTCH1 duplication in a family with microcephaly and mild developmental delay.
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Academic Article
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A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.
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Academic Article
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Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay.
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Academic Article
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Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.
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Academic Article
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Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
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Academic Article
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TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly.
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Academic Article
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Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants.
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Academic Article
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The phenotype of recurrent 10q22q23 deletions and duplications.
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Academic Article
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Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
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Academic Article
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Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
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Academic Article
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The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3.
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Academic Article
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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
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Academic Article
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Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization.
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Academic Article
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Low-level mosaicism of trisomy 14: phenotypic and molecular characterization.
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Academic Article
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Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.
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Academic Article
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Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.
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Academic Article
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Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay.
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Academic Article
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Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
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Academic Article
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Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.
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Concept
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Developmental Disabilities
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Concept
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Child Development Disorders, Pervasive
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Academic Article
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Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay.
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Academic Article
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Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
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Academic Article
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CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.
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Academic Article
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Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.
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Academic Article
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Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era.
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Academic Article
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Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.
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Academic Article
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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
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Academic Article
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Prenatal detection of 10q22q23 duplications: dilemmas in phenotype prediction.
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Academic Article
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Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.
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Academic Article
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A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
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Academic Article
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Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis.
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