Other novel techniques are also available that can provide fast and reliable diagnosis of KS, for example, array based multiplex ligation-dependent probe amplification (MLPA)4 for the rapid screening of chromosomal aneuploidies or the equally elegant assessment of the copy number of the androgen receptor by quantitative polymerase chain reaction (qPCR).5 These techniques should also be consider...

a relationship based on the modified couple stress theory is developed to investigate the flexural sensitivity of an atomic force microscope (afm) with assembled cantilever probe (acp). this acp comprises a horizontal cantilever, two vertical extensions and two tips located at the free ends of the extensions which form a caliper. an approximate solution to the flexural vibration problem is obta...

BACKGROUND Müllerian aplasia (MA) characterized by congenital loss of functional uterus and vagina is one of the most difficult disorders of female reproductive health. Despite of growing interest in this research field, the cause of the disorder for the majority of patients is still unknown. A recent report of partial SHOX duplications in five patients with MA has motivated us to further evalu...

BACKGROUND Inducible conditional knockout animals are widely used to get insight in the function of genes and the pathogenesis of human diseases. These models frequently rely on Cre-mediated recombination of sequences flanked by Lox-P sites. To understand the consequences of gene disruption, it is essential to know the efficiency of the recombination process. RESULTS Here, we describe a modif...

We introduce a principle of parallel optical processing to an optofluidic lab-on-a-chip. During electrophoretic separation, the ultra-low limit of detection achieved with our set-up allows us to record fluorescence from covalently end-labeled DNA molecules. Different sets of exclusively color-labeled DNA fragments-otherwise rendered indistinguishable by spatio-temporal coincidence-are traced ba...

OBJECTIVE The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques are used to detect these changes, and obtaining an unequivocal diagnosis is important to understand the physiopathology of the diseases. The objective of this study was to assess the diagnostic capacity of multiplex ligation-dep...

PURPOSE To identify mutations in the paired box 6 (PAX6) gene of 33 probands with aniridia and to reveal the mutational spectrum in the Chinese population. METHODS Unrelated probands with aniridia from 27 newly selected families and six previously analyzed families participated in this study. The coding regions of PAX6 in the 27 new families were analyzed using cycle sequencing. Families that...

The recent development of multiplex ligation-dependent probe amplification (MLPA) has provided an efficient and reliable assay for dosage screening of multiple loci in a single reaction. However, a drawback to this method is the time-consuming process of generating a probe set by cloning in single-stranded bacteriophage vectors. We have developed a synthetic probe set to screen for deletions in...

Background: β-thalassemia is one of the most widespread disease in the world, including Iran. In this study, we reported, for the first time, A 290-bp β-globin gene deletion in the south of Iran. Methods: Four individuals from three unrelated families with Arabic ethnic background were studied in Khuzestan Province. Red blood cell indices and hemoglobin analysis were carried out accor...

By fluorescence enhancement of a proximity-dependent DNA-scaffolded silver nanocluster probe pair and exonuclease III-mediated signal amplification, we present a new fluorescence turn-on mode and its application for specific DNA detection.