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.
. Diagnosis of human heritable defects by recombinant DNA methods. Philos Trans R Soc Lond B Biol Sci. 1988 ;319(1194):353-60.
. 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.
. . Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient. Hum Mol Genet. 1992 ;1(8):645-6.
. 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.
. Infection of a yellow baboon with simian immunodeficiency virus from African green monkeys: evidence for cross-species transmission in the wild. J Virol. 1994 ;68(12):8454-60.
. A novel beta-thalassaemia mutation in the 5' untranslated region of the beta-globin gene. Br J Haematol. 1994 ;88(2):307-10.
. Accurate determination of DNA in agarose gels using the novel algorithm GelScann(1.0). Comput Appl Biosci. 1995 ;11(2):187-94.
. 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.
. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat Genet. 1996 ;13(1):109-13.
. 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.
. Isolation and characterization of the platelet-derived growth factor beta receptor promoter. Dev Dyn. 1997 ;208(2):211-9.
. 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.
. A baboon (Papio hamadryas) with an isochromosome for the long arm of the X. Cytogenet Cell Genet. 1998 ;82(1-2):80-2.
. Effect of disruption of a gene encoding an autolysin of Enterococcus faecalis OG1RF. Antimicrob Agents Chemother. 1998 ;42(11):2883-8.
.