Down syndrome is a common disorder affecting many tissues both during development and
later on in adult life; the principle feature of all cases is a specific form of mental retardation …

Interferon (IFN) was approved by the US Food and Drug Administration on June 5, 1986. As
the first biotherapeutic approved, IFN‐α paved the way for development of many other …

Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. Genetic
linkage studies have mapped a locus (AD3) associated with susceptibility to a very …

We report the cloning of a gene, S2P, that encodes a putative metalloprotease required for
intramembrane proteolysis of sterol-regulatory element–binding proteins (SREBPs) at Site …

Spinal muscular atrophies (SMAs) represent the second most common fatal autosomal
recessive disorder after cystic fibrosis. Childhood spinal muscular atrophies are divided into …

Abstract Smith–Magenis syndrome (SMS), caused by del (17) p11. 2, represents one of the
most frequently observed human microdeletion syndromes. We have identified three copies …

Down syndrome is a major cause of mental retardation and congenital heart defects. While
most of the affected individuals have three copies of chromo some 21, patients with partial …

Sets of ordered overlapping cloned genomic DNA fragments that span each of the human
chromosomes are urgently needed for identification of human disease genes. Such a …

The folding of chromatin in interphase cell nuclei was studied by fluorescent in situ
hybridization with pairs of unique DNA sequence probes. The sites of DNA sequences …

Velo-cardio-facial syndrome (VCFS) is a common genetic disorder among individuals with
cleft palate and is associated with hemizygous deletions in human chromosome 22q11 …