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1.  Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14 
Journal of Medical Genetics  2007;44(4):264-268.
This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as the most characteristic features. In each case, this interstitial deletion was found using molecular karyotyping. The deletion occurred as a de novo event and varied between 3.44 and 6 megabases (Mb) in size with a 3.44 Mb common deleted region. The deleted interval was not flanked by low‐copy repeats or segmental duplications. It contains 13 RefSeq genes, including LEMD3, which was previously shown to be the causal gene for osteopoikilosis. The observation of osteopoikilosis lesions should facilitate recognition of this new microdeletion syndrome among children with failure to thrive, short stature and learning disabilities.
doi:10.1136/jmg.2006.047860
PMCID: PMC2598049  PMID: 17220210
osteopoikilosis; short stature; mental retardation;  HMGA2 ;  GRIP1
2.  qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data 
Genome Biology  2007;8(2):R19.
qBase, a free program for the management and automated analysis of qPCR data, is described
Although quantitative PCR (qPCR) is becoming the method of choice for expression profiling of selected genes, accurate and straightforward processing of the raw measurements remains a major hurdle. Here we outline advanced and universally applicable models for relative quantification and inter-run calibration with proper error propagation along the entire calculation track. These models and algorithms are implemented in qBase, a free program for the management and automated analysis of qPCR data.
doi:10.1186/gb-2007-8-2-r19
PMCID: PMC1852402  PMID: 17291332

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