Publications
[Results of treatment of flexion spasms in children]. Neurol Neurochir Pol. 1971 ;5(3):387-91.
. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 1988 ;16(23):11141-56.
. Automated DNA sequencing methods for detection and analysis of mutations: applications to the Lesch-Nyhan syndrome. Trans Assoc Am Physicians. 1989 ;102:185-94.
. Long HIV-1 incubation periods and dynamics of transmission within a family. Lancet. 1990 ;336(8708):134-6.
. . Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet. 1991 ;49(5):951-60.
. Evolution of human immunodeficiency virus type 1 nucleotide sequence diversity among close contacts. Proc Natl Acad Sci U S A. 1991 ;88(24):11236-40.
. An overview of industrial accidents with particular reference to facial trauma. Aust Dent J. 1991 ;36(6):445-50.
. A transposon-like element in the deletion-prone region of the dystrophin gene. Genomics. 1992 ;13(3):594-600.
. Collaborative Social and Medical Service System. Proc Annu Symp Comput Appl Med Care. 1994 ;:614-8.
. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet. 1994 ;7(4):497-501.
. 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. Genome Res. 1995 ;5(1):71-8.
. Collaborative social and medical service application. Medinfo. 1995 ;8 Pt 2:1671.
. Linkage mapping in Papio baboons: conservation of a syntenic group of six markers on human chromosome 1. Genomics. 1995 ;28(2):251-4.
. . Conservation of human chromosome 18 in baboons (Papio hamadryas): a linkage map of eight human microsatellites. Cytogenet Cell Genet. 1996 ;75(4):207-9.
. Potential salmon sperm origin of the E3 region insert of the adenovirus 5 dl309 mutant. Cancer Gene Ther. 1996 ;3(3):151-4.
. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 ;15(1):62-9.
. Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet. 1997 ;6(3):479-86.
. Association between serum insulin growth factor-I (IGF-I) and a simple sequence repeat in IGF-I gene: implications for genetic studies of bone mineral density. J Clin Endocrinol Metab. 1998 ;83(7):2286-90.
. DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression. Hum Mutat. 1998 ;11(2):121-6.
. The genomic organization of Isopeptidase T-3 (ISOT-3), a new member of the ubiquitin specific protease family (UBP). Gene. 1998 ;217(1-2):101-6.
. Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing. J Med Genet. 1998 ;35(8):646-9.
. Relationship of HIV testing and high-risk behaviors among clients in methadone maintenance treatment. AIDS Educ Prev. 1998 ;10(5):403-16.
. AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency. Hum Mutat. 2000 ;15(4):316-23.
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