Allelic and locus heterogeneity in inherited venous malformations.
- J. T. Calvert, T. J. Riney, D. Marchuk
- Biology, MedicineHuman Molecular Genetics
- 1 July 1999
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.
Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities.
- G. Grimshaw, A. Szczepura, S. Dhanjal
- MedicineHealth Technology Assessment
- 2003
Genetic disorders.
- N. Nevin
- Biology, MedicineClinics 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 chromosome…
Genetic linkage of familial expansile osteolysis to chromosome 18q.
- A. Hughes, A. Shearman, R. Mollan
- MedicineHuman Molecular Genetics
- 1 February 1994
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.
Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach.
- J. Zschocke, C. Graham, D. J. Carson, N. Nevin
- BiologyAmerican Journal of Human Genetics
- 1 December 1995
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.
Apparent prevention of neural tube defects by periconceptional vitamin supplementation.
- R. Smithells, S. Sheppard, D. Fielding
- MedicineArchives of Disease in Childhood
- 1 December 1981
The difference in outcome between FS and US mothers is significant, and the most likely explanation is that supplementation has prevented some neural tube defects, but further studies are needed.
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
- W. Reardon, D. Wilkes, R. Winter
- Biology, MedicineJournal of Medical Genetics
- 1 August 1997
Mental retardation, apparently unrelated to the management of the craniosynostosis, appears to be a variable clinical consequence of this FGFR3 mutation.
A study on limb reduction defects in six European regions.
- C. Stoll, E. Calzolari, L. T. ten Kate
- MedicineAnnales de Genetique
- 6 August 1996
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.
Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar syndrome).
- P. Morrison, H. Mulholland, B. Craig, N. Nevin
- MedicineAmerican journal of medical genetics
- 1 November 1992
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 to…
The prevalence of inherited neuromuscular disease in Northern Ireland
- M. I. Hughes, E. Hicks, N. Nevin, V. Patterson
- Medicine, PsychologyNeuromuscular Disorders
- 31 January 1996
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