Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113) and symptoms can vary dramatically between individuals, even within the same family. Some people have very mild skin changes, whereas others suffer severe medical complications. The condition usually appe...

OBJECTIVES To report a novel SOX2 (OMIM 184429) mutation in a Chinese family and to describe its ocular and extraocular clinical features. METHODS Ocular and systemic examinations were performed, and genomic DNA was prepared from peripheral leukocytes. The coding exons and the adjacent intronic sequence of SOX2 were analyzed by cycle sequencing. RESULTS A novel heterozygous c.695C>A (p.Thr2...

Male infertility is considered to be a difficult-to-treat condition because it is not a single entity, but rather reflects a variety of different pathologic conditions, thus making it difficult to use a single treatment strategy. Structural alterations in the Y chromosome have been the principal factor responsible for male infertility. We examined 26 family members of 13 patients with male infe...

Recent formulations of socialization emphasize a previously neglected facet of parent-child interaction—the effects of child attributes on parent behavior. Empirically, however, little has been done to clarify which attributes of children systematically affect parental behavior and how they affect them. This study examines the relationship between children's activity level and independently ass...

The Laius complex is the father's complex of fear of the son as a potential rival in his own prerogatives. I t is considered more fundamental than the Freudian Oedipus complex which describes the son's rivalry with his father, founded on the son's sexual desire for his mother. Laius is the father of Oedipus. Graber3 holds that the original guilt rests with Laius (12, p. 17f.). Since Laius wante...

Kinship refers to the blood relationship between two people. It is known that we humans have the ability to estimate this relationship based on physiological features, especially facial characteristics. In this project, we focus on the 4 different types of parent-child kinship (father-daughter, father-son, mother-daughter, motherson) and build a model to measure it given two face images using t...