1. SECTIONS:
2. preface & acknowledgements
3. genetics at a glance
4. contacts, support & testing
5. testing & pregnancy
6. newborn screening
7. cancer in the family
8. cardiovascular conditions
9. chromosomal conditions
10. clotting & bleeding conditions
11. cystic fibrosis
12. diabetes
13. fragile X syndrome and other causes of developmental delay
14. haemoglobinopathies
15. hereditary haemochromatosis
16. neurofibromatosis
17. neurological conditions
18. psychiatric conditions
19. genetics in practice
20. emerging genetic technologies
21. glossary

Bibliography

 

Barlow-Stewart K, 2004. Newborn screening. In The Australasian Genetics Resource Book
(Ed Barlow-Stewart K), Centre for Genetics Education, Royal North Shore Hospital, Sydney NSW ISBN 0-9580797-2-2.
http://www.genetics.com.au

 

Gaff C, Newstead J and Metcalfe S, 2003. Newborn screening. In The Genetics File.
Victorian Department of Human Services, Melbourne ISBN 0 7311 61777.
http://www.mcri.edu.au/GF/pages/GeneticsFile.asp

 

Human Genetics Society of Australasia Policy Statement on Newborn Screening under Policies
and Statements section.
at http://www.hgsa.com.au

 

Massie J, 2001. How to treat cystic fibrosis, Australian Doctor, 18 May.

 

Robinson M, White FJ, Cleary MA, et al, 2000. Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet. Journal of Pediatrics, 136(4): 545-547.

 

Scriver CR and Kaufman S, 2000. Hyperphenylalaninaemia: phenylalanine hydroxylase deficiency.
In: Scriver CR, Beaudet AL, Valle D et.al., The Metabolic and Molecular Bases of Inherited Disease. McGraw Hill, New York pp 1702-1705.

 

Wilcken B and Wiley V, 2003. Newborn screening methods for cystic fibrosis. Paediatric Respiratory Reviews, 4: 272-277.

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