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Both studies also confirmed a previously reported deletion on chromosome 22 that is associated with a disease called velocardiofacial syndrome that often leads to schizophrenia.
Exactly as reported, deletion of ROX1 derepressed the expression of HEM13 under aerobic growth (Figure 4A).
No reported deletion of a gene encoding an Hsp90 client or cochaperone with a spermatogenesis defect in the mouse gives exactly the same phenotype [45], [48].
We present a family with a previously reported deletion (c.5186_5188delAGA, p.K1729del).
This reported deletion was interrogated against ~ 5000 control samples using Nexus Copy Number v6.1TM (BioDiscovery Inc .. Quantitative polymerase chain reaction (qPCR) using the SYBR-Green method was used to confirm the reported deletion and determine the inheritance pattern [21].
Both BMP4 deletions reported in this study are smaller than the previously reported deletion of BMP4 without OTX2 involvement (Hayashi et al. 2008).
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Fourty-nine abnormalidentifiedtified by MLPA were previously reported deletions and trisomy.
One group indeed reported deletions 5' of the breakpoint on der(18) in all three MALT lymphoma cases examined [32].
A study of loss of heterozygosity at 71 microsatellite markers in 66 IBCs [41] reported deletions of various chromosomal regions including 3p14 p21.2, 6p, 8p22, 11q22 q23, 11q24 q25, 13q14, and especially 17q21, more frequently than in nIBCs.
Detection of previously reported deletions suggested that our methods for detecting deletion/amplification were working properly.
More recently several groups have reported deletions in 16p11 in ASD [ 13, 14, 18].
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