Zobrazeno 1 - 7
of 7
pro vyhledávání: '"L E, Kratz"'
Publikováno v:
American journal of medical genetics. 95(4)
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations of the 7-dehydrocholesterol (7DHC) reductase gene (DHCR7). We present our experience with prenatal diagnosis of an affected fetus wit
Autor:
S, Kumada, M, Hayashi, J, Kenmochi, S, Kurosawa, N, Shimozawa, L E, Kratz, R I, Kelley, K, Taki, M, Okaniwa
Publikováno v:
American journal of medical genetics. 98(3)
We present a male autopsied case of chondrodysplasia punctata with abnormal face, symmetrical proximal limb shortness, severe psychomotor developmental delay, respiratory muscle weakness, and death at the age of 2 years. Although his clinical manifes
Publikováno v:
American journal of medical genetics. 83(3)
The term, "chondrodysplasia punctata" (CDP) denotes a pattern of abnormal punctate calcification of dystrophic epiphyseal cartilage and certain other cartilaginous structures, such as the larynx. CDP occurs in a variety of genetic disorders associate
Autor:
L E, Kratz, R I, Kelley
Publikováno v:
American journal of medical genetics. 82(5)
The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is a relatively common, autosomal recessive malformation syndrome comprising distinctive facial, limb and genital anomalies, and mental retardation. Most patients with a clinical diagnosis of RSH/SLOS hav
Publikováno v:
Progress in clinical and biological research. 375
Publikováno v:
Xenobiotica. 17:1279-1291
1. The H1-antagonist N,N-dimethyl-N'-2-pyridyl-N'-(2-thienylmethyl)-1,2-ethanediamine (methapyrilene) is carcinogenic in rats. 2. The compound, which is inactive in short-term tests and does not bind to DNA, has been classified as a non-genotoxic car
Publikováno v:
Disease markers. 7(4)
The HLA-DR locus of the major histocompatibility complex encodes class II molecules which participate in immune responses through regulation of T cell interaction with antigen presenting cells. Previous association studies between HLA-DR antigens and