1. A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome. Issue 6 (4th January 2008) Authors: Clendenning, M; Senter, L; Hampel, H; Robinson, K Lagerstedt; Sun, S; Buchanan, D; Walsh, M D; Nilbert, M; Green, J; Potter, J; Lindblom, A; de la Chapelle, A Journal: Journal of medical genetics Issue: Volume 45:Issue 6(2008) Page Start: 340 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. Issue 12 (15th August 2008) Authors: Bonafé, L; Hästbacka, J; de la Chapelle, A; Campos-Xavier, A B; Chiesa, C; Forlino, A; Superti-Furga, A; Rossi, A Journal: Journal of medical genetics Issue: Volume 45:Issue 12(2008) Page Start: 827 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Carrier detection and prenatal diagnosis in X linked muscular dystrophy using restriction fragment length polymorphisms. Issue 6 (December 1986) Authors: Lindlöf, M; Kääriäinen, H; Davies, K E; de la Chapelle, A Journal: Journal of medical genetics Issue: Volume 23:Issue 6(1986) Page Start: 560 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cartilage-hair hypoplasia. Issue 1 (January 1995) Authors: Mäkitie, O; Sulisalo, T; de la Chapelle, A; Kaitila, I Journal: Journal of medical genetics Issue: Volume 32:Issue 1(1995) Page Start: 39 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Chromosome damage after intra-articular injections of radioactive yttrium. Effect of immobilization on the biological dose. Issue 6 (November 1972) Authors: de la Chapelle, A; Rekonen, A; Oka, M; Ruotsi, A Journal: Annals of the rheumatic diseases Issue: Volume 31:Issue 6(1972) Page Start: 508 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Disease gene mapping in isolated human populations: the example of Finland. Issue 10 (October 1993) Authors: de la Chapelle, A Journal: Journal of medical genetics Issue: Volume 30:Issue 10(1993) Page Start: 857 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Familial pericentric inversion inv(8)(p23q11). Issue 3 (March 1994) Authors: Boyd, H; Kaste, J; Hovi, E; Ritanen-Mohammed, U M; Kääriäinen, H; de la Chapelle, A; Lehesjoki, A E Journal: Journal of medical genetics Issue: Volume 31:Issue 3(1994) Page Start: 201 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism. Issue 4 (April 1998) Authors: Ala-Mello, S; Sankila, E M; Koskimies, O; de la Chapelle, A; Kääriäinen, H Journal: Journal of medical genetics Issue: Volume 35:Issue 4(1998) Page Start: 279 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3. Issue 1 (January 1998) Authors: Olschwang, S; Markie, D; Seal, S; Neale, K; Phillips, R; Cottrell, S; Ellis, I; Hodgson, S; Zauber, P; Spigelman, A; Iwama, T; Loff, S; McKeown, C; Marchese, C; Sampson, J; Davies, S; Talbot, I; Wyke, J; Thomas, G; Bodmer, W Journal: Journal of medical genetics Issue: Volume 35:Issue 1(1998) Page Start: 42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland. Issue 12 (December 1995) Authors: Guldberg, P; Henriksen, K F; Sipilä, I; Güttler, F; de la Chapelle, A Journal: Journal of medical genetics Issue: Volume 32:Issue 12(1995) Page Start: 976 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗