H. Kozman

发表

Autosomal dominant distal myopathy: linkage to chromosome 14.

F. Mastaglia, N. Laing, P. Robbins, 1995, American journal of human genetics.

Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci.

J. Attwood, N. Doggett, R. Stallings, 1993, Genomics.

Refined genetic localization for central core disease.

F. Couch, J. Mulley, R. Gregg, 1993, American journal of human genetics.

A PCR-based genetic linkage map of human chromosome 16.

N. Doggett, K. Holman, Y. Shen, 1994, Genomics.

Molecular genetic evidence for common pathogenesis of childhood and adult Wilms' tumor.

P. Smith, M. Little, H. Kozman, 1989, Cancer genetics and cytogenetics.

Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis.

A. Donnelly, J. Mulley, M. Partington, 1994, American journal of medical genetics.

The CEPH consortium linkage map of human chromosome 16.

H Donis-Keller, H M Kozman, T P Keith, 1994, Genomics.

Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association.

J. Haines, P. Taschner, H. Mitchison, 1993, Genomics.

Dinucleotide repeat polymorphism at the D16S288 locus.

R. Richards, K. Holman, G. Sutherland, 1991, Nucleic Acids Research.

Addition of MT, D16S10, D16S4, and D16S91 to the linkage map within 16q12.1-q22.1.

G. Sutherland, J. Mulley, G. Suthers, 1991, Genomics.

Integration of transcript and genetic maps of chromosome 16 at near-1-Mb resolution: demonstration of a "hot spot" for recombination at 16p12.

D. Page, D. Maglott, N. Kenmochi, 1995, Genomics.

A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1.

L. Kunkel, A. Beggs, N. Laing, 1992, Genomics.

Refinement of the background genetic map of Xq26-q27 and gene localisation for Börjeson-Forssman-Lehmann Syndrome.

D. Schlessinger, J. Mulley, G. Turner, 1996, American journal of medical genetics.

Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia.

J. Mulley, T. Cox, W. Raskind, 1992, Human molecular genetics.

A new DNA marker tightly linked to the fragile X locus (FRAXA).

K. Davies, P. Harper, D. Callen, 1989, Science.

Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22.

A. Donnelly, J. Mulley, D. Danks, 1994, American journal of medical genetics.

A linkage map of microsatellite markers on the human X chromosome.

R. Richards, G. Sutherland, A. Donnelly, 1994, Genomics.

Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.

R. Richards, K. Holman, S. Yu, 1991, Journal of medical genetics.

Human glandular Kallikrein genes: genetic and physical mapping of the KLK1 locus using a highly polymorphic microsatellite PCR marker.

R. Richards, K. Holman, D. Shaw, 1991, Genomics.

Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers.

R. Richards, K. Holman, G. Sutherland, 1991, American journal of human genetics.

Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1.

J. Mulley, G. Hollway, J. Roberts, 1994, American journal of medical genetics.