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Search: authors:"Swaroop Aradhya"

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Counting Chromosomes to Exons: Advances in Copy Number Detection

Abnormal copy number of chromosomes, genes, or individual exons can have deleterious effects that lead to recognizable genetic disorders. Until recently, the traditional methods of karyotyping, fluorescence in situ hybridization, and rudimentary PCR-based assays were the only choices available to detect copy number abnormalities. The advent of chromosomal microarrays and next...

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

Ame lie Piton 4 Jacques L. Michaud 2 Huashan Peng 0 Swaroop Aradhya 8 Julie Gauthier 4 Laurent Mottron 7 Nathalie Champagne 6 Ronald G. Lafrenie` re 4 Fadi F. Hamdan 2 S 2 D team 4 6 11 Ridha Joober

Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes

The X-linked dominant and male-lethal disorder incontinentia pigmenti (IP) is caused by mutations in a gene called NEMO (IKK-γ). We recently reported the structure of NEMO and demonstrated that most IP patients carry an identical deletion that arises due to misalignment between repeats. Affected male abortuses with the IP deletion had provided clues that a second, incomplete copy...

A recurrent deletion in the ubiquitously expressed NEMO (IKK-γ) gene accounts for the vast majority of incontinentia pigmenti mutations

be addressed. Tel: +1 713 798 4787; Fax: +1 713 798 5386; Email: The authors are members of the International IP Consortium The authors wish it to be known that, in their opinion, Swaroop Aradhya