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At least 1,675 records · Page 93Linked to original sources
PubMed1991

The X-inactivation imprinting model of the fragile-X syndrome: annotated references, 1990.

The X-inactivation imprinting model of the fragile-X syndrome (1), the inference from this model and from pedigree data that human oogonia are derived from two progenitor cells present after the initial event that leads to chromosome imprinting (13), and the general model of fragile sites (8), provide a theoretical framework that is consistent with data on the fragile-X syndrome. This framework has led to novel predictions, some of which have been tested. Results of most tests have been consistent with predictions (10, 13, 17, 18, 27, 28). More direct tests are necessary to explore the underlying mechanisms of chromosome change, here termed imprinting, of the molecular basis of the change, and of the mutation itself.

Dosage Compensation, Genetic↗
PubMed1990

Aplasia cutis congenita. A case report and annotation.

Aplasia cutis congenita (ACC) including epidermolysis bullosa (EB) are rare congenital conditions. In ACC there is a localised absence of skin while in EB blistering occurs with a split at the epidermal or dermal level. In the past these 2 conditions have been reported to occur in the same patient. A case of a Gurkha baby girl illustrating just such an entity with severe erosive defects over the head, face, trunk and acral parts of the limbs presenting at birth is reported. There was also widespread blistering over the chest, abdomen and back. The baby died after 3 days from serious complications.

Epidermolysis Bullosa, Junctional↗
PubMed1990

[Direct and indirect effects of vaccines: an annotation on the estimation of the vaccine efficacy from outbreaks caused by acute infection agents such as measles].

A good measure of the efficacy of vaccines should be based on an index that standardizes the exposure to infection of those who have been immunized and those who have not. In addition, the measure should not be influenced by indirect effects. In the case of outbreaks directly transmitted agents that cause acute infections diseases, the household secondary rates of attack are the best indicator of vaccine efficacy provided that the data are collected at the household level. If the data are not collected in this manner, the best indicator will be the estimated probability of transmission, even though this estimator and its meaning less obvious than the secondary attack of rate. Other strategies to estimate the efficacy of an immunization are more appropriate for situations that are more complex than outbreaks caused by acute infectious agents.

Antibodies, Viral↗
PubMed1990

Charge association. A case report and short annotation.

A premature female infant was noted to have an unusual combination of abnormalities, consistent with the CHARGE ASSOCIATION. 1. Left (L) choanal stenosis 2. Fallot's Tetralogy 3. Esophageal atresia with distal TOF (Tracheo-Oesophageal Fistula) 4. Duodenal stenosis 5. Annular pancreas with ectopic pancreatic tissue in the proximal jejunum. Baby had surgery for the gastrointestinal tract abnormalities. She lived for only 19 days.

Abnormalities, Multiple↗