Introduction Mutations of the FMR-1 (Fragile X Mental Retardation 1) gene cause a genetic condition know as Fragile X Syndrome (FXS). FXS is the most common inherited cause of mental retardation. The Fragile X knockout mouse (FX KO) is the most widely used animal model of FXS (1). Anatomical phenotyping in the mouse brain using Magnetic Resonance Imaging (MRI) has been shown in a number of muta...

background cutis marmorata telangiectatica congenita (cmtc) is a sporadic congenital skin vascular abnormality. significant number of patients has other congenital anomalies. case report we report a case of a preterm male newborn with cutis marmorata pattern presented on the skin of the face, right side of front of the trunk, whole back, glutei and both legs. besides, microretrognatia and asymm...

Pericentric inversion has been suggested as one possible explanation for an abnormally located, human somatic cell autosomal centromere in twenty-one instances (reviewed in Jacobs et al. 1967; see also Summitt & Atnip, 1966; Nance & Engel, 1967; Schmid, 1967; and Soudek, Laxovh & AdBmek, 1968). Five of these cases involved chromosome no. 2: three were found in individuals with various abnormali...

Structural chromosomal rearrangements can lead to a wide variety of serious clinical manifestations, including mental retardation (MR) and congenital malformations. Over the last few years, rearrangements below the detection level of conventional karyotyping have been proved to contribute significantly to the cause of MR. These so-called copy number variations are now routinely being detected u...

It is pointed out that the retardation terms given in the original Fermi-Breit potential vanish in the center of mass frame. The retarded one-gluon exchange potential is rederived in this paper from the three-dimensional one-gluon exchange kernel which appears in the exact three-dimensional relativistic equation for quark-antiquark bound states. The retardation part of the potential given in th...

In this paper we present a review of the existing data on interferential mirror birefringence. We also report new measurements of two sets of mirrors that confirm that mirror phase retardation per reflection decreases when mirror reflectivity increases. We finally developed a computational code to calculate the expected phase retardation per reflection as a function of the total number of layer...

Phytoglycogen is a naturally occurring polysaccharide nanoparticle made up of extensively branched glucose monomers. It has a number of unusual and advantageous properties, such as high water retention, low viscosity, and high stability in water, which make this biomaterial a promising candidate for a wide variety of applications. In this study, we have characterized the structure and hydration...

A person with moderate mental retardation would, in a western country, be "diagnosed" early on in life. Consequently, such a child is likely to be sent for special education. Given the high level of job requirements, such a person is unlikely to be employed in the open market later in life. Mental retardation is one of the most frequent disabilities in most studies, mental retardation is found ...

Fragile X syndrome occurs as a result of a mutation of the fragile X mental retardation 1 (FMR1) gene on the bottom of the X chromosome (Pic. 1), which encodes fragile X mental retardation protein (FMRP). This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function. The CGG triplet that means gene segment consisting of a cytosine...

Fragile X syndrome occurs as a result of a mutation of the fragile X mental retardation 1 (FMR1) gene on the bottom of the X chromosome (Pic. 1), which encodes fragile X mental retardation protein (FMRP). This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function. The CGG triplet that means gene segment consisting of a cytosine...