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Multicolor Spectral Karyotyping of Human Chromosomes
The simultaneous and unequivocal discernment of all human chromosomes in different colors would be of significant clinical and biologic importance. Whole-genome scanning by spectral karyotypingExpand
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Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared geneticExpand
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Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broadenExpand
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Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality
Heterozygous mutation or deletion of the ß subunit of platelet-activating factor acetylhydrolase (PAFAH1B1, also known as LIS1) in humans is associated with type I lissencephaly, a severeExpand
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Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
Background: Subtelomere fluorescence in situ hybridisation (FISH) analysis has increasingly been used as an adjunct to routine cytogenetic testing in order to detect small rearrangements. PreviousExpand
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Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas.
Previous studies have demonstrated that allelic deletions of the short arm of chromosome 17 occur in over 75% of colorectal carcinomas. Twenty chromosome 17p markers were used to localize the commonExpand
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Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
To determine the molecular basis of Prader-Willi syndrome (PWS) and Angelman syndrome (AS), we have isolated new transcripts from chromosome 15q11–q13. Two novel transcripts located within 300Expand
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Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats
LISSENCEPHALY (agyria-pachygyria) is a human brain malformation manifested by a smooth cerebral surface and abnormal neuronal migration1,2. Identification of the gene(s) involved in this disorderExpand
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Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray
Purpose: Array comparative genomic hybridization is rapidly becoming an integral part of cytogenetic diagnostics. We report the design, validation, and clinical utility of an oligonucleotide arrayExpand
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