Showing papers by "The Cyprus Institute published in 1995"
TL;DR: The gene for this hereditary form of distal spinal muscular atrophy, mainly affecting the upper limbs with a mean age of onset of 17 years, is mapped to chromosome 7p in a large Bulgarian family.
Abstract: An autosomal dominant distal form of spinal muscular atrophy mainly affecting the upper limbs with a mean age of onset of 17 years has been identified in a large Bulgarian family. Linkage of the above family to the spinal muscular atrophy type I, II and III locus on chromosome 5 has been excluded. In an attempt to map this disease gene we have analysed individuals of this family, with more than 140 microsatellite polymorphic markers of the human genome. A maximum lod score of 5.99 at theta = 0.007 has been obtained with locus D7S795. We have thus mapped the gene for this hereditary form of distal spinal muscular atrophy to chromosome 7p.
99 citations
TL;DR: A case of third trimester pregnancy occurring in a 29 year old woman after intracytoplasmic sperm injection (ICSI) treatment with spermatozoa from a globozoospermic man is presented.
Abstract: We present a case of third trimester pregnancy occurring in a 29 year old woman after intracytoplasmic sperm injection (ICSI) treatment with spermatozoa from a globozoospermic man. We believe this is the first reported case. A 37 year old man was diagnosed with globozoospermia with normal sperm count and motility. In-vitro fertilization and subzonal insemination treatments failed to achieve fertilization of any eggs. The ICSI method produced 50% fertilization, 75% cleavage rate and a singleton pregnancy with a female fetus. No pregnancy or fetal abnormalities have been noted after > 7 months of gestation.
59 citations