DNA deletion associated with hereditary neuropathy withh liability to pressure palsies
Article Abstract:
The chromosomal aberration associated with hereditary neuropathy with liability to pressure palsies (HNPP) was identified. Using DNA markers developed from Charcot-Marie-Tooth disease type 1 (CMT1), HNPP was attributed to a large deletion in 17p11.2 spanning 1.5 Mb and including all markers mapped to the duplicated region associated with CMT1A. It is proposed that HNPP and CMT1 are the products of unequal crossing over during meiosis, producing a deleted and duplicated region in chromosome 17, respectively.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1993
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An E-MAP of the ER
Article Abstract:
Genes implicated in the secretory pathway are studied to demonstrate the use of genetic interaction mapping in order to predict the gene function. Results indicate that saturation epitasis analysis of genes implicated in the early secretory pathway in yeast provides a new strategy for uncovering functional relationships using high-throughput genomic data.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 2005
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Silence of the fathers: Early X inactivation
Article Abstract:
The three studies reviewed show an unexpected view of events associated with X inactivation. The inactivation of the paternal X chromosomes is demonstrated, although incomplete, in preimplantation embryos.
Publication Name: BioEssays
Subject: Biological sciences
ISSN: 0265-9247
Year: 2004
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- Abstracts: Exposure to maternal diabetes is associated with altered fetal growth patterns: a hypotheses regarding metabolic allocation to growth under hyperglycemic-hypoxemic conditions
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