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Allelic and locus heterogeneity in inherited venous malformations.
Results from COS-1 cell transfections using expression constructs containing either the R849W or the Y897S mutation suggest that the receptors containing either mutation show ligand-independent hyperphosphorylation, suggesting a gain-of-function mechanism for development of venous malformations in these families. Expand
Genetic linkage of familial expansile osteolysis to chromosome 18q.
Mapping a new locus for a gene involved in regulation of bone metabolism may also have implications in the study of Paget's disease of bone which is a common related bone dysplasia. Expand
Genetic disorders.
  • N. Nevin
  • Medicine
  • Clinics in obstetrics and gynaecology
  • 1982
Genetic disorders are diseases that are caused by an abnormality in the genome. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosomeExpand
Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach.
A multistep approach for the rapid analysis of phenylketonuria (PKU) mutations is presented and is particularly well suited to routine mutation analysis in a diagnostic setting. Expand
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
Mental retardation, apparently unrelated to the management of the craniosynostosis, appears to be a variable clinical consequence of this FGFR3 mutation. Expand
Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar syndrome).
We describe the phenotypic characteristics of 25 individuals with oculo-auriculo-vertebral spectrum (OAVS) and its variants, seen in Northern Ireland between 1969-1989, with special reference toExpand
Familial expansile osteolysis. A new dysplasia.
Most patients had an associated deafness of early onset and loss of dentition, and the serum alkaline phosphatase and urinary hydroxyproline are variably elevated, while other biochemical indices are normal. Expand
The prevalence of inherited neuromuscular disease in Northern Ireland
The prevalence of myotonic dystrophy was higher than that in most previously reported studies and accounted for 25% of all cases and Congenital myopathies were also found more frequently than expected. Expand
A study on limb reduction defects in six European regions.
This study was undertaken in 6 European countries to evaluate the use of the new classification proposed by EUROCAT for the epidemiologic and genetic study of LRD. Expand