Affiliation: Western Australia
- Consanguineous marriage and its clinical consequences in migrants to AustraliaJ Nelson
Clinical Genetics Unit, Westmead Hospital, Sydney, New South Wales, Western Australia
Clin Genet 52:142-6. 1997..The effects of parental consanguinity are assessed both in terms of the specific recessive disorders detected, and the perceived role of consanguineous marriage in the communities investigated...
- A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5CLars R Jensen
Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
Pathogenetics 3:2. 2010..Specific transcriptional targets of KDM5C, however, are still unknown and the effects of KDM5C deficiency on gene expression have not yet been investigated...
- Incidence of the mucopolysaccharidoses in Western AustraliaJohn Nelson
Genetic Services of Western Australia, King Edward Memorial Hospital for Women, Perth, Australia
Am J Med Genet A 123:310-3. 2003..The overall incidence for all types of mucopolysaccharidosis was approximately 1 in 29,000 live births. A comparison is made with incidence estimates obtained from other published studies...
- Changing profile of couples seeking genetic counseling for consanguinity in AustraliaKatrina E Port
Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia
Am J Med Genet A 132:159-63. 2005..5% of all consanguineous consultants. With ongoing migration, changes in the ethnic profiles and the specific counseling requirements of consanguineous couples can be expected to continue and probably accelerate...
- Abnormal iris processes may be a marker of glaucoma gene carrier status in some cases of primary infantile glaucomaChandrakumar Balaratnasingam
Centre for Ophthalmology and Visual Science, Lions Eye Institute, The University of Western Australia, Perth, Australia
Ophthalmic Genet 28:157-62. 2007..To report the presence of dense and abnormal iris processes in the unaffected parents and sibling of a non consanguineous family where 3 children out of 4 suffer from primary infantile glaucoma (PIG)...
- Molecular study of 33 families with Fraser syndrome new data and mutation reviewM M van Haelst
Molecular Medicine Unit, Institute of Child Health, London, United Kingdom
Am J Med Genet A 146:2252-7. 2008..Mutations were identified in only 43% of the cases suggesting that other genes syntenic to murine genes causing blebbing may be responsible for FS as well...