A5038600242- Genetics and Neurodevelopmental Disorders
- Geology and Paleoclimatology Research
- Geomagnetism and Paleomagnetism Studies
- Geological and Geochemical Analysis
- Genomic variations and chromosomal abnormalities
- Autism Spectrum Disorder Research
- Ubiquitin and proteasome pathways
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Congenital heart defects research
- Genomics and Rare Diseases
- Adolescent and Pediatric Healthcare
- Geological formations and processes
- RNA modifications and cancer
- Cystic Fibrosis Research Advances
- Geological and Geophysical Studies
- Prenatal Screening and Diagnostics
- earthquake and tectonic studies
- Gestational Diabetes Research and Management
- Geophysical and Geoelectrical Methods
- Chromosomal and Genetic Variations
- Family and Disability Support Research
- Genetic Syndromes and Imprinting
- Sexual Differentiation and Disorders
- Paleontology and Stratigraphy of Fossils
- Connective tissue disorders research
Victoria University of Wellington
2015-2024
Department of Health and Social Care
2022
Musgrave Park Hospital
2021
Children's Hospital at Westmead
1971-2020
Hunter Genetics
2004-2017
University of Newcastle Australia
1998-2014
Greenwood Genetic Center
2008
Women's and Children's Hospital
1991-2007
The University of Adelaide
2007
Hunter New England Local Health District
2007
The much-quoted prevalence figure of 1:1,000 males for fragile X syndrome is an overestimate in a mixed ethnic population. A reexamination the individuals from whom those data were derived using molecular diagnostic techniques demonstrates more realistic 1:4,000 males. © 1996 Wiley-Liss, Inc.
Summary The results of a cytogenetic and segregation analysis 110 pedigrees the mar (X) syndrome are reported. study indicated an inverse relationship between IQ mar(X) frequency in females but not males. A small significant effect age on was observed both males females, it restricted to those normal intelligence, retarded showing no effect. Classical performed using program segran , analyzing sexes separately. 20% deficit affected observed, most plausible explanation for majority these...
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, large number families mapping to remained unresolved suggesting that more XLID or loci are yet be Here, we investigated 405 with XLID. We employed massively parallel sequencing all exons index males. The majority these males were previously tested negative for copy variations mutations subset known by...
Autism and mental retardation (MR) are often associated, suggesting that these conditions etiologically related. Recently, array-based comparative genomic hybridization (array CGH) has identified submicroscopic deletions duplications as a common cause of MR, prompting us to search for such imbalances in autism. Here we describe 1.5-Mb duplication on chromosome 16p13.1 was found by high-resolution array CGH four severe autistic male patients from three unrelated families. The same several...
A wide range of examples the application magnetic measurements to environmental studies illustrate advantages techniques over conventional methods. Magnetic measurements, in both field and laboratory, are particularly useful for reconnaissance work because their spee flexibility, Quantification as well simple diagnosis transformation movement minerals within between atmosphere, lithosphere, hydrosphere is practical. Techniques investigating intrinsic mineral properties, addition...
A palaeomagnetic record of the geomagnetic secular variation during last 10 000 years has been obtained from cores sediment Loch Lomond, Scotland, Lake Windermere, North England, and Llyn Geirionydd, Wales. time-scale is provided by 30 radiocarbon age determinations pollen analyses on several cores. The main swings much fine detail both declination inclination records repeat well between lakes, overall more detailed than previous European records. new shows that neither nor have periodic...
Males affected by one form of X-linked retardation possess the X-chromosomal marker fra(X)(q27) and are physically normal except for macro-orchidism. To relate possession X to phenotypic expression in female heterozygotes, we investigated 128 mildly retarded (IQ, 55 75) schoolgirls Sydney, New South Wales, Australia. Seventy-two girls had no physical abnormalities these, five (7 per cent) carried X. Investigation relatives revealed males four families. Pedigree chromosomal analysis...