1. 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) ↗
2. A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations. Issue 12 (18th December 2003) Authors: Jakkula, E; Lohiniva, J; Capone, A; Bonafe, L; Marti, M; Schuster, V; Giedion, A; Eich, G; Boltshauser, E; Ala-Kokko, L; Superti-Furga, A Journal: Journal of medical genetics Issue: Volume 40:Issue 12(2003) Page Start: 942 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Achondrogenesis type 1B. Issue 11 (November 1996) Authors: Superti-Furga, A Journal: Journal of medical genetics Issue: Volume 33:Issue 11(1996) Page Start: 957 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule. Issue 6 (June 1989) Authors: Superti-Furga, A; Pistone, F; Romano, C; Steinmann, B Journal: Journal of medical genetics Issue: Volume 26:Issue 6(1989) Page Start: 358 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome. Issue 12 (December 1992) Authors: Superti-Furga, A; Raghunath, M; Willems, P J Journal: Journal of medical genetics Issue: Volume 29:Issue 12(1992) Page Start: 875 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. DTDST mutations are not a frequent cause of idiopathic talipes equinovarus (club foot). Issue 4 (1st April 2002) Authors: Bonafé, L; Blanton, S H; Scott, A; Broussard, S; Wise, C A; Superti-Furga, A; Hecht, J T Journal: Journal of medical genetics Issue: Volume 39:Issue 4(2002) Page Start: e20 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. Issue 8 (8th June 2009) Authors: Furuichi, T; Kayserili, H; Hiraoka, S; Nishimura, G; Ohashi, H; Alanay, Y; Lerena, J C; Aslanger, A D; Koseki, H; Cohn, D H; Superti-Furga, A; Unger, S; Ikegawa, S Journal: Journal of medical genetics Issue: Volume 46:Issue 8(2009) Page Start: 562 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. Issue 10 (24th June 2010) Authors: Dai, J; Kim, O-H; Cho, T-J; Schmidt-Rimpler, M; Tonoki, H; Takikawa, K; Haga, N; Miyoshi, K; Kitoh, H; Yoo, W-J; Choi, I-H; Song, H-R; Jin, D-K; Kim, H-T; Kamasaki, H; Bianchi, P; Grigelioniene, G; Nampoothiri, S; Minagawa, M; Miyagawa, S-i Journal: Journal of medical genetics Issue: Volume 47:Issue 10(2010) Page Start: 704 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. Issue 1 (1st January 2003) Authors: Ballhausen, D; Bonafé, L; Terhal, P; Unger, S L; Bellus, G; Classen, M; Hamel, B C; Spranger, J; Zabel, B; Cohn, D H; Cole, W G; Hecht, J T; Superti-Furga, A Journal: Journal of medical genetics Issue: Volume 40:Issue 1(2003) Page Start: 65 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia. Issue 8 (August 1996) Authors: Winterpacht, A; Superti-Furga, A; Schwarze, U; Stöss, H; Steinmann, B; Spranger, J; Zabel, B Journal: Journal of medical genetics Issue: Volume 33:Issue 8(1996) Page Start: 649 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗